Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Abnormality of the dentition |
ORPHA:2222 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... |
OMIM:620099 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... |
ORPHA:2025 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Abnormal clavicle morphology, Rhizomelia, Short middle phalanx of... |
OMIM:119650 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Telecanthus |
|
Telecanthus, Anodontia, Bilateral cleft lip and palate |
OMIM:187350 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... |
ORPHA:71267 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Gingival overgrowth, Gingival... |
ORPHA:2026 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri... |
ORPHA:166272 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Dental Ankylosis |
|
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... |
ORPHA:1077 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... |
OMIM:610967 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... |
ORPHA:1837 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon |
ORPHA:1074 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Inguinal hernia, Coxa valga, Micrognat... |
OMIM:618363 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,... |
OMIM:113300 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia, Pal... |
OMIM:226650 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... |
ORPHA:63442 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con... |
OMIM:609698 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ... |
ORPHA:1512 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Blepharophimosis... |
OMIM:141300 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Ost... |
OMIM:184260 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste... |
OMIM:265800 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut... |
OMIM:203550 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn... |
ORPHA:2016 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... |
OMIM:614592 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... |
ORPHA:2484 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Microretrognathia, Cleft palate |
OMIM:600331 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... |
OMIM:234250 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Catifa Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cleft lip, Cleft palate, Increased overbite, Long philtrum... |
OMIM:618761 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Decreased calva... |
OMIM:259440 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Abnormality of the dentition |
ORPHA:2380 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B... |
OMIM:612463 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi... |
ORPHA:163649 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... |
OMIM:259420 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, High palate, Long phi... |
ORPHA:99329 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Megaepiphyseal Dwarfism |
|
Epicanthus, Cleft palate |
OMIM:249230 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... |
ORPHA:50945 |
Medial Condensing Osteitis Of The Clavicle |
|
Abnormal clavicle morphology, Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Bencze Syndrome |
|
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... |
OMIM:119600 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hirsutism, Gingiva... |
ORPHA:313855 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Thin upper lip vermilion, Palmoplantar keratoderma |
OMIM:613576 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Ankyloblepharon, Cleft upper lip |
OMIM:106250 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures |
OMIM:168550 |
Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polyd... |
ORPHA:3098 |
Cleidorhizomelic Syndrome |
|
Abnormal clavicle morphology, Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of... |
ORPHA:1453 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Metaphyseal widening, Synophrys, Pectus carinatum, Knee dislocation, Narrow ches... |
OMIM:615777 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Elbow... |
ORPHA:2769 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Upper eyelid coloboma, Cleft palate, High pa... |
OMIM:619736 |
Rhizomelic Syndrome |
|
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat... |
OMIM:268250 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide... |
OMIM:269300 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Joint hypermobility, Hip ... |
OMIM:618853 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... |
OMIM:613684 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperost... |
ORPHA:3416 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypodontia |
ORPHA:1816 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad ... |
OMIM:300602 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... |
ORPHA:181 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Thick lower lip vermilion, Dental malocclusion, Eyelid col... |
OMIM:157980 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Achondroplasia |
|
Short nasal bridge, Anteverted nares, Thoracic hypoplasia, Depressed nasal bridge, Hip joint hype... |
ORPHA:15 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Malabsorption |
ORPHA:99811 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Epicanthus, Micrognathia, Velopharyngeal insufficiency, High palate, Downslanted palpebral fissures |
OMIM:608363 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Short clavicles, Hypoplastic pelvis, Retrognathia |
OMIM:618022 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Tetrasomy X |
|
Abnormality of the dentition, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clino... |
ORPHA:9 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... |
OMIM:600920 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:277440 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypopla... |
OMIM:608612 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Prominent nose,... |
OMIM:201170 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Ptosis |
OMIM:617732 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho... |
ORPHA:2790 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... |
OMIM:609324 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Upslanted palpebral fissure, Malar flattening, High palate, Bifid uvula |
OMIM:300850 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, T... |
OMIM:272440 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate... |
ORPHA:2863 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short lo... |
ORPHA:370930 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Abnormal size of the palpebral fissures, Macrodontia, High, narrow pal... |
ORPHA:3214 |
Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Epicanthus, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:10 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteoporosis, Diaphyseal dysplasia, Ma... |
OMIM:614727 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p... |
ORPHA:884 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Wide anterior fontanel, Decr... |
OMIM:275100 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint dislocation, Joint laxity, High palate, Short clavicles, Short 4th metac... |
OMIM:606220 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Grant Syndrome |
|
Bowing of the long bones, Depressed nasal bridge, Micrognathia, Abnormal cortical bone morphology... |
ORPHA:2097 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Brachydactyly, Single transverse palmar crease, Adducted thumb |
OMIM:620062 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Wide anterior fontanel, Wide nasal bridge |
OMIM:614859 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal eyelid morphology, Carious teeth, Conical tooth, Ectropion of lower eyelids, Bilateral c... |
ORPHA:1997 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Epicanthus, Cleft palate, Micrognathia |
ORPHA:2015 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Met... |
OMIM:263210 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Finger syndactyly, Increased bone mineral density, Abnormal dental enamel ... |
ORPHA:2658 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Retrognathia... |
OMIM:212112 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, Short middle... |
OMIM:613823 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Thin long bone diaphyses, Recurrent fractures, Hip dislocation, Oste... |
OMIM:616507 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental... |
ORPHA:85199 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Enam... |
ORPHA:79402 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Inguinal h... |
OMIM:613848 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick vermi... |
OMIM:618506 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Osteoporosis, C... |
ORPHA:231226 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... |
OMIM:616081 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... |
OMIM:132400 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly, Leukocytosis, Hep... |
OMIM:612840 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Dental crowding, S... |
OMIM:210600 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,... |
ORPHA:79405 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Enamel hypoplasia, Hypo... |
OMIM:253250 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br... |
OMIM:300106 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... |
ORPHA:95716 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... |
ORPHA:231214 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... |
OMIM:618825 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Depressed nasal bridge, Single transverse palmar crease, M... |
OMIM:614541 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Epicanthus, Dental malocclusion |
OMIM:619692 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo... |
OMIM:617746 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Micrognathia, Absent middle pha... |
OMIM:308050 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... |
OMIM:142900 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum |
OMIM:613312 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Narrow chest, Frontal hirsuti... |
OMIM:309350 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate, T... |
OMIM:617412 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel, Ulnar bowing, Sho... |
OMIM:619135 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S... |
ORPHA:289157 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutane... |
OMIM:103580 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti... |
OMIM:610968 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,... |
ORPHA:79406 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Abnormality of the ... |
ORPHA:3152 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contrac... |
ORPHA:2457 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel, Talipes equinovarus |
OMIM:614872 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f... |
OMIM:614135 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, Thin ribs, High palate, Lambdoidal craniosyno... |
OMIM:616294 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... |
ORPHA:53697 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Conical tooth, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:129400 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn... |
OMIM:259720 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Abnormality of the dentition, Oligodontia, Short 5th finger, Hypoplasia of... |
ORPHA:557003 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micromel... |
ORPHA:2021 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival ov... |
ORPHA:1832 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Epicanthus, Dental malocclusion, High palate, Downslanted palpebral fissures |
OMIM:618292 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al... |
OMIM:618727 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border, Palmoplantar hyperkeratosis |
ORPHA:363523 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Cdags Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Large fontanelles... |
OMIM:603116 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, ... |
OMIM:619184 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of primary teeth, T... |
OMIM:618342 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Flexion contracture, Pectus carinat... |
OMIM:130070 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:600081 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Thick lower lip vermilion, Dent... |
ORPHA:2563 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu... |
ORPHA:337 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T... |
OMIM:612350 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Thick vermilion bo... |
OMIM:619980 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Finge... |
ORPHA:1520 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo... |
ORPHA:2635 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... |
OMIM:611369 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... |
OMIM:166200 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Palmoplantar cutis laxa, Den... |
OMIM:229200 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Cleft palate, Micrognathia |
OMIM:249710 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse eyelashes, Sparse eyebrow, Oligodontia, Hypodontia |
OMIM:601345 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,... |
ORPHA:79411 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of pe... |
OMIM:619269 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodu... |
OMIM:620107 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Patent ductus ar... |
OMIM:619293 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Cachexi... |
ORPHA:824 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B... |
OMIM:612462 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f... |
OMIM:601957 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... |
ORPHA:1860 |
Cranioectodermal Dysplasia 4 |
|
Joint hypermobility, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Thin ... |
OMIM:614378 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplantar hyperkeratos... |
OMIM:226670 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Depressed nasal bridge, Postaxial polydactyly, Micrognat... |
OMIM:617925 |
Congenital Atransferrinemia |
|
Arthritis, Hypothyroidism, Anemia |
ORPHA:1195 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Downslanted p... |
ORPHA:3145 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Epicanthus, Cleft palate, Micrognathia |
ORPHA:1779 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan... |
OMIM:207410 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Chime Syndrome |
|
Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phalanges of the hand, Hip disl... |
ORPHA:3474 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co... |
ORPHA:69087 |
Snijders Blok-Campeau Syndrome |
|
Epicanthus, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia |
OMIM:618205 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u... |
ORPHA:2204 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormal femur mor... |
ORPHA:429 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Postaxial hand polydactyly, Wide anterior fontanel, Triphalangeal t... |
ORPHA:36 |
Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Micrognathia, Broad nasal tip, Underdeveloped nasal alae, Depressed nasal... |
ORPHA:52022 |
Treacher Collins Syndrome 4 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Malar flattening, Downslanted palpebral fissures |
OMIM:618939 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Di... |
ORPHA:1513 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Abnormal dental enamel morp... |
ORPHA:3220 |
Eem Syndrome |
|
Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely space... |
ORPHA:1897 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Overtubulated long bones, Hypoplastic facial bones, Short clavicles |
OMIM:619793 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... |
ORPHA:2107 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru... |
OMIM:610682 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Esophageal stricture, Hypodontia |
OMIM:616029 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... |
OMIM:156510 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Short palm, Short phalanx of finger, Cortical irregularity, Anteverted ... |
OMIM:249420 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... |
OMIM:607634 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Small for gestational age, Progeroid facial appearance, Slen... |
ORPHA:50811 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, High palate, Long eyelashes... |
OMIM:612292 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs |
ORPHA:66630 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia, Conjunctival whitish salt-like deposits |
OMIM:211900 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Down-sloping shoulders, Abnorm... |
ORPHA:96263 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Aplastic clavicle, Hypoplasia of the max... |
ORPHA:2554 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Larsen-Like Syndrome |
|
Joint laxity, Wide anterior fontanel, Dental malocclusion, Absent nasal bridge, Radial deviation ... |
OMIM:608545 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Cleft palate, Micrognathia |
OMIM:183700 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... |
OMIM:300717 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... |
OMIM:253300 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating... |
ORPHA:226313 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, C1-C2 subluxation, Hypoplasia of the odontoid process... |
OMIM:607014 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Telecanthus, Delayed eruption of permanent teeth, Broad alveolar ridges, F... |
OMIM:218400 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal widening,... |
OMIM:182212 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Cortica... |
OMIM:122860 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Single transverse palmar crease, Narrow mouth, Patent ductus arteriosus, Cleft palate, Thin vermi... |
OMIM:615502 |
Qazi-Markouizos Syndrome |
|
Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal bones, O... |
ORPHA:3010 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal... |
ORPHA:582 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, Abnormal hip bone morphology, Clinodactyly ... |
ORPHA:3236 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... |
OMIM:619773 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Wide anterior font... |
OMIM:275210 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Recurrent fractures, Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnorma... |
ORPHA:319487 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Orofacial cleft, Cleft palate, Widely-spaced maxillary ce... |
OMIM:601349 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thick hair, Highly arched eyebrow, Tapered finger, Small hand, Short clavi... |
ORPHA:401923 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Wide anterior fontanel, Decreased skull ossification, Short distal phalanx... |
ORPHA:2963 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... |
OMIM:112240 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
Hypophosphatasia, Childhood |
|
Craniosynostosis, Premature loss of primary teeth, Carious teeth, Bowing of the legs, Rachitic ro... |
OMIM:241510 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Glossoptosis, Retrognathia, Bifid uvula, Ectropion |
OMIM:615706 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:241530 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96264 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Joint... |
ORPHA:137834 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate, Sparse lateral eyebrow |
OMIM:617337 |
Cohen Syndrome |
|
Short metacarpal, Single transverse palmar crease, Micrognathia, Tapered finger, Hypoplasia of th... |
OMIM:216550 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... |
ORPHA:266 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth, Dow... |
ORPHA:457365 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Broad radial metaphysis, Abnormal intervertebral disk morphology, Protrusio acet... |
ORPHA:99642 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Epicanthus, Telecanthus, Highly arched eyebrow, Open bite, Synophrys, Abno... |
ORPHA:1327 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L... |
OMIM:615314 |
Aredyld Syndrome |
|
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental enamel morphol... |
ORPHA:1133 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Epicanthus, Tented upper lip vermilion, Everted upper lip vermilion, B... |
ORPHA:420561 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, High palate, Thick v... |
OMIM:614608 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femoral epiph... |
OMIM:600561 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower eyelid retract... |
OMIM:118400 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Mesomelia, Vertebral segmentation defect, Abno... |
ORPHA:2631 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Micrognathia, Respiratory insufficiency due to muscle weakness, Respiratory f... |
OMIM:611890 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depres... |
OMIM:114290 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Pectus excavatum, Wide anterior fontanel |
OMIM:618272 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Lon... |
OMIM:614607 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Long palpebral fissure, Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth |
OMIM:619797 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Absent distal ... |
OMIM:619339 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Abnormality of the ... |
ORPHA:263463 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Wide anterior fontanel, Polydactyly, Clinodactyly, Bra... |
ORPHA:313781 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Short philtrum, Thick vermilion border, Eve... |
ORPHA:46627 |
Pili Torti |
|
Abnormal eyebrow morphology, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Malar flatte... |
OMIM:248390 |
Dysspondyloenchondromatosis |
|
Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu valgum, Multiple encho... |
ORPHA:85198 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... |
ORPHA:2878 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp... |
ORPHA:1071 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue... |
OMIM:135100 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Epicanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, Downslanted palpebral fi... |
OMIM:616901 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... |
ORPHA:819 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp... |
OMIM:620193 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the ... |
OMIM:610539 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
Hao-Fountain Syndrome |
|
Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, High, narrow palate, Velopharyngeal insu... |
OMIM:619941 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pe... |
OMIM:123000 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil... |
ORPHA:97290 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Epicanthus, Dental crowding, Broad philtrum, Macroglossia, High palate... |
OMIM:616354 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, Wide anterior fontanel, Dee... |
OMIM:616638 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Camptodactyly of finger,... |
ORPHA:2092 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow |
ORPHA:209908 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... |
OMIM:617159 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Short finger, Tapered finger |
OMIM:302000 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal ... |
ORPHA:1842 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Carious teeth, Synophrys, Malar flattening, Retrognathia, Downslanted palpebral fissu... |
ORPHA:1390 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Scarf Syndrome |
|
Inguinal hernia, Craniosynostosis, Joint hyperflexibility, Short sternum, Long philtrum, Umbilica... |
ORPHA:3134 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Downslanted palpebral fissures, Smooth philtrum |
OMIM:614526 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615271 |
Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Dental malocclusion, Shortening of all distal ph... |
OMIM:616202 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... |
OMIM:177170 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... |
ORPHA:536467 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior... |
OMIM:225410 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Inguinal hernia, Bowed humerus, Tarsal... |
OMIM:272460 |
Ascher Syndrome |
|
Deviation of finger, Wide nose, Hypothyroidism, Goiter |
ORPHA:1253 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone... |
OMIM:190350 |
Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Osteoporosis, Talipes equinovarus, Radial deviation of finger, Clin... |
OMIM:309610 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Respiratory insuff... |
OMIM:617021 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Highly arched eyebrow, Cleft palate, Downturned corners of mouth, Ectopic ... |
ORPHA:94066 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hi... |
ORPHA:2180 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Wide nose, Broad hallux, Wide anterior fontanel, Hand polydactyly, Broad thumb |
OMIM:239710 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta, Single transverse palmar crease, Short palm |
OMIM:101805 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Too... |
ORPHA:633 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... |
ORPHA:2167 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Primary gonadal insufficiency, Delayed puberty, Male hypogonadism, Central dia... |
ORPHA:411590 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Blepharop... |
OMIM:619110 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Pachyonychia Congenita 2 |
|
Sparse eyebrow, Natal tooth, Angular cheilitis, Oral leukoplakia |
OMIM:167210 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:915 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ... |
OMIM:164900 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... |
OMIM:617514 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow... |
ORPHA:1423 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Specific Granule Deficiency 2 |
|
Osteopenia, Brachydactyly, Sandal gap, Conical tooth, Tooth malposition, Amelogenesis imperfecta |
OMIM:617475 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Depressed... |
ORPHA:628 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Abnormality of dental color, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1006 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Sparse or absent eyel... |
ORPHA:3353 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Radiouln... |
ORPHA:11 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Mic... |
OMIM:259775 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus excavatum, Osteo... |
OMIM:619131 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Brachydactyly, Hepatosplenomegaly |
ORPHA:221054 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormal rib morphology, Abnorma... |
ORPHA:1486 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Palmoplantar ker... |
ORPHA:79410 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Marden-Walker Syndrome |
|
Arachnodactyly, Anteverted nares, Micrognathia, Wide anterior fontanel, Radioulnar synostosis, Ab... |
OMIM:248700 |
Perching Syndrome |
|
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Mitten deformity,... |
ORPHA:79409 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Supernumerary ... |
OMIM:190351 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu... |
ORPHA:2804 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Prominent nose, Flexion contracture, Knee flexion contracture, Death in childhood, ... |
OMIM:214150 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb |
ORPHA:2091 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Wide anterior fontanel, Clino... |
OMIM:300963 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Hyperekplexia 4 |
|
Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Camptodactyly, Addu... |
OMIM:618011 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Pectus excavatum, Pectus carinatum, Decreased calvarial ossification... |
OMIM:259410 |
Ohdo Syndrome |
|
Joint laxity, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narr... |
OMIM:249620 |
Bangstad Syndrome |
|
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, C... |
OMIM:210740 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce... |
OMIM:184252 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Hyperlordosis, Abnormal form of the vertebral bodies, Reduced bone min... |
ORPHA:577 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L... |
OMIM:118651 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, De... |
OMIM:607812 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Trismus, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal... |
ORPHA:916 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Epiphyseal stippling, Hypoplasia of the nasal bone, Knee flexion contracture |
OMIM:118650 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... |
ORPHA:100024 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted t... |
ORPHA:2645 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas... |
OMIM:620192 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cubitus valgus, 4-5 finger syndactyly, ... |
OMIM:164200 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor... |
ORPHA:2063 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebr... |
OMIM:613680 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... |
ORPHA:2538 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Joint laxity, Inguinal hernia, Ulnar deviation of the wrist, Coxa valga, E... |
OMIM:253010 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp... |
ORPHA:1858 |
Tetrasomy 5P |
|
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Pectus excavatum, Long fingers, Wi... |
ORPHA:3309 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Progeroid facial appearance, Genu valgum, Slender long bon... |
OMIM:608154 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... |
ORPHA:2249 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Abnormality of the wrist, El... |
ORPHA:95699 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly... |
OMIM:136140 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Palmoplantar keratoderma |
OMIM:612843 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Large fontanelles, Wide anterior fontanel, Depressed nasal bridge, Anteverted nares |
OMIM:614883 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Unilateral cleft palate, Craniosynostosi... |
ORPHA:1299 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Death in c... |
OMIM:269920 |
Osteopetrosis, Autosomal Dominant 2 |
|
Mandibular osteomyelitis, Fractures of the long bones, Generalized osteosclerosis, Abnormality of... |
OMIM:166600 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Prominent nasal bridge, Delayed ... |
ORPHA:357058 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... |
ORPHA:1227 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Thoracic kyphosis, Wormian bones, Short 4th metacar... |
OMIM:619638 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... |
ORPHA:50814 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle... |
ORPHA:666 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Joint laxity, Inguinal hernia, Ulnar deviation of the wrist, Coxa valga, E... |
OMIM:253000 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Upslanted palpebral fissure, Cleft hard palate, Micrognathia |
ORPHA:166016 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Schilbach-Rott Syndrome |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Upslanted palpebral fissure, Narrow mouth,... |
OMIM:164220 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
Joubert Syndrome 26 |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Recurrent upper respirat... |
OMIM:616784 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red... |
OMIM:613038 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the wrist, Pectus excavatum, Abnormal thumb ... |
ORPHA:2511 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Large fontanelles, Clubbing of toes, ... |
ORPHA:1525 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu... |
OMIM:608940 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Highly arched eyebrow, Cleft palate, Malar flattening, Smooth philtrum |
OMIM:611867 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:417 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp... |
OMIM:228000 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Short nose |
OMIM:601853 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Microdont... |
OMIM:218330 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Patent ductus arteriosus, Hip dysplasia, Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Adrenocorticotropic hormo... |
OMIM:609981 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... |
OMIM:619326 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytos... |
OMIM:209950 |
Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr... |
OMIM:277150 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Flexion contracture, Elbow flexion contracture, Hip dislocation, Hyperext... |
ORPHA:75840 |
Gne Myopathy |
|
Limited shoulder movement, Scapular winging, Hypothyroidism, Limited wrist extension |
ORPHA:602 |
Ck Syndrome |
|
Prominent nasal bridge, Micrognathia, Retrognathia, Abnormal cortical bone morphology, Abnormal d... |
OMIM:300831 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling |
OMIM:614870 |
Lissencephaly, X-Linked, 2 |
|
Wide anterior fontanel, Prominent nasal bridge, Wide nasal bridge, Micrognathia |
OMIM:300215 |
Allan-Herndon-Dudley Syndrome |
|
Hallux valgus, Pectus excavatum, Flexion contracture, Elevated circulating thyroid-stimulating ho... |
OMIM:300523 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow ... |
OMIM:618186 |
Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin... |
OMIM:218340 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Trisomy 9P |
|
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Downslanted ... |
ORPHA:236 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p... |
OMIM:266920 |
Neonatal Adrenoleukodystrophy |
|
Wide anterior fontanel, Anteverted nares, Wide nasal bridge, Bilateral single transverse palmar c... |
ORPHA:44 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Limitation o... |
ORPHA:108 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe... |
OMIM:616809 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia, Downslanted palpebral fissures |
OMIM:619981 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth |
ORPHA:2760 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ... |
OMIM:614078 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Caffey Disease |
|
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon... |
OMIM:114000 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Pectus e... |
OMIM:156550 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Short palpebral fissure, Cleft maxillary alveolar ridge |
OMIM:619452 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... |
OMIM:166740 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Wide mouth, Sparse or absent eyelashes, Aplas... |
ORPHA:1231 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho... |
ORPHA:3194 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... |
ORPHA:2759 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Premat... |
OMIM:614742 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Carious teeth, Mandibular osteo... |
ORPHA:53 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar deviation of fing... |
ORPHA:949 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... |
ORPHA:166002 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... |
OMIM:265120 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... |
ORPHA:1302 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Prominent nose, Coxa valga, Osteoporosis, Finger clinodactyly, Bilateral talipes equinovarus, Sup... |
ORPHA:2958 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyelashes, Abnormality of the philtrum, Cleft upper lip, Sparse eyebrow, Cleft palate, Hyp... |
OMIM:225060 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy... |
ORPHA:808 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... |
OMIM:614524 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Facial hyperostosis, Hig... |
ORPHA:2780 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Thin upper lip vermilion, Dorsocervical fat pad, Down-sloping shoulders, Deviation ... |
ORPHA:391408 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide ... |
OMIM:616920 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Dental malocclusion, Thin ribs, Slender long bone, S... |
OMIM:612921 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp... |
OMIM:235510 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnor... |
ORPHA:93298 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Aplasia Of Lacrimal And Salivary Glands |
|
Absent lacrimal punctum, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Lacrimal gland apl... |
OMIM:180920 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... |
OMIM:222600 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Oral ulcer, Reduced bone mineral... |
OMIM:617052 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary teeth, ... |
ORPHA:2409 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Depressed nasal bridge, Rhizomelia, Wide anterior fontanel, Palmoplantar cutis laxa, Tibial bowin... |
OMIM:616482 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
Juvenile Paget Disease |
|
Abnormal clavicle morphology, Bowing of the long bones, Recurrent fractures, Cranial hyperostosis... |
ORPHA:2801 |
Asbestos Intoxication |
|
Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... |
ORPHA:2302 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Bamforth-Lazarus Syndrome |
|
Retrognathia, Cleft palate |
ORPHA:1226 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit, Ankyloblepharon |
ORPHA:1072 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79444 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... |
OMIM:618961 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog... |
ORPHA:2909 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Sandal gap, Joint hypermobility, Carious teeth, Small hand, 2-3 toe sy... |
OMIM:619229 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed ri... |
ORPHA:168549 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... |
ORPHA:163634 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Restrictive ventilatory defect, Respiratory failure, Intersti... |
OMIM:620296 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Narrow chest |
OMIM:616546 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Micromelia, Wide dist... |
OMIM:613320 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive seco... |
OMIM:608971 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arth... |
ORPHA:2771 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Scarf Syndrome |
|
Inguinal hernia, Coronal craniosynostosis, Short sternum, Lambdoidal craniosynostosis, Long philt... |
OMIM:312830 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... |
ORPHA:1328 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... |
ORPHA:1264 |
Zellweger Syndrome |
|
Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Epiphyseal stipp... |
ORPHA:912 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Microretrognathi... |
OMIM:616229 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow vertebral interpedicular distance, Bowing of the legs, Short neck, Hyperlordosis, Delayed ... |
ORPHA:93352 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Large fontanell... |
ORPHA:73230 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema |
OMIM:619718 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micrognathia, Bila... |
OMIM:145420 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil... |
OMIM:617865 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Short nose, ... |
OMIM:219200 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Highly arched eyebrow, High palate, Long eyelashes, Short philtrum, Th... |
OMIM:615866 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... |
OMIM:226600 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Bulbous nose, Cone-shaped epiphysis, Short foot, Short long b... |
OMIM:102370 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glossoptosis, Hyp... |
ORPHA:3201 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared met... |
OMIM:602557 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mine... |
OMIM:215140 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Anteverted nares, Rocker bottom foot, Single transverse palmar creas... |
OMIM:214100 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K... |
ORPHA:93316 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism, Micrognathia, Elbow ankylosis, Hamstring contractures |
ORPHA:96183 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Wide anterior fontanel, Depressed nasal bridge |
OMIM:617241 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, Oligodontia, Foo... |
OMIM:305600 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... |
ORPHA:2590 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Sparse eyebro... |
ORPHA:178303 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Pierre-Robin sequence, Long palpebral fi... |
OMIM:620183 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing |
ORPHA:2768 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... |
ORPHA:73 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T... |
OMIM:300863 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620211 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En... |
OMIM:208230 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Narrow palate, Hypoplasia of teeth, Wide mouth, Short... |
OMIM:620250 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis, Central apnea |
ORPHA:71277 |
Grant Syndrome |
|
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Depressed... |
ORPHA:235 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... |
OMIM:609638 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Chronic rhinitis, Goiter |
OMIM:617577 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Large f... |
ORPHA:436 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Death in infancy, Resp... |
OMIM:615512 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Median cleft lip, Downslanted palpebral fissures, Bifid uvula |
OMIM:155145 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... |
OMIM:619636 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Thyroiditis, Hydrocel... |
OMIM:615108 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Cree Mental Retardation Syndrome |
|
Micrognathia, Downslanted palpebral fissures, Cleft soft palate, Ptosis |
OMIM:606851 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Decreased circulating T4 con... |
ORPHA:90674 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral os... |
ORPHA:93299 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Abnormal eyelid morphology, Abnormal eyelash morphology, Micrognathia, Abnormal... |
ORPHA:1794 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaph... |
OMIM:260400 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ... |
OMIM:618291 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Limitation of join... |
ORPHA:2994 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Depressed nasal bridge, Rhizomel... |
OMIM:151210 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa va... |
OMIM:602271 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... |
ORPHA:723 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Hyperhidrosis, Lymphadenopathy, Pheochromocytoma, Elevated circulati... |
ORPHA:1332 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short nose, Depressed nasal bridge |
ORPHA:2143 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Multiple joint contractures, Broad hallux, Choanal atresia, Delayed closure of the an... |
OMIM:305450 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... |
OMIM:601812 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness |
ORPHA:816 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Velopharyngeal insufficien... |
OMIM:614701 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Lower eyelid col... |
OMIM:154500 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Short palm, Malar flattening, Short 1... |
ORPHA:93328 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Respiratory insufficiency, Death in infancy |
ORPHA:139406 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:3363 |
Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Respiratory failure |
OMIM:604801 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Alg9-Cdg |
|
Microretrognathia, Prominent metopic ridge, Ulnar deviation of the hand, Depressed nasal bridge, ... |
ORPHA:79328 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79443 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Abnormality of the tongue muscle, Hip dislocation, Respiratory insuf... |
ORPHA:370968 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Osteoporosis, Hypothyroidism |
OMIM:618625 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone m... |
ORPHA:1803 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Upslanted palpebral fissure, Short philtrum, Short palpebral fissure |
OMIM:617237 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla... |
OMIM:108721 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus |
OMIM:609166 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death i... |
OMIM:619164 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Cleft palate |
ORPHA:2010 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters |
OMIM:226730 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea, Sea-blue histiocyt... |
OMIM:607616 |
Hypophosphatasia, Infantile |
|
Death in infancy, Apnea, Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibili... |
OMIM:241500 |
Eec Syndrome |
|
Entropion, Abnormal dental enamel morphology, Sparse eyebrow, Carious teeth, Xerostomia, Orofacia... |
ORPHA:1896 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Abnormal oral mucosa morphology, C... |
OMIM:305100 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolysis, Ost... |
ORPHA:90154 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta... |
OMIM:218600 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure |
ORPHA:132 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing |
OMIM:126550 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Abnormality of the elbow, ... |
ORPHA:1005 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... |
OMIM:259450 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxial hand polydacty... |
OMIM:175700 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Ante... |
OMIM:180700 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Anteverted nares, Depressed nasal bri... |
OMIM:614613 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S... |
ORPHA:221016 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... |
ORPHA:3035 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... |
OMIM:619334 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long eyelashe... |
OMIM:618529 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Synophrys, Low anterior hairline, S... |
OMIM:619841 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough,... |
ORPHA:2414 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Thyroiditis, Hydrocel... |
OMIM:615109 |
Orofaciodigital Syndrome X |
|
Telecanthus, Retrognathia, Cleft palate |
OMIM:165590 |
Sandestig-Stefanova Syndrome |
|
Small for gestational age, Rocker bottom foot, Wide nasal bridge, Orofacial cleft, Respiratory fa... |
OMIM:618804 |
Pediatric-Onset Graves Disease |
|
Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter... |
ORPHA:525731 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Cranio... |
OMIM:259700 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure... |
ORPHA:890 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Single transverse palmar crease, Micrognathia, Tapered f... |
ORPHA:444072 |
Stickler Syndrome, Type Ii |
|
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Malar flattening, Bifid u... |
OMIM:604841 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphyseal cupping ... |
OMIM:300232 |
Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Bilateral choanal atresia, Congenital hypothyroidism |
OMIM:241850 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Small for gestational age, Flared nostrils, Wide nasal bridge, Apneic episodes ... |
OMIM:312170 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Splenomegaly, Squar... |
ORPHA:2746 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa... |
OMIM:614099 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Br... |
OMIM:615222 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebra... |
ORPHA:140936 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Cyanosis, Rocker bottom foot, Postaxial polydact... |
ORPHA:2886 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel |
OMIM:619064 |
Kilquist Syndrome |
|
Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth |
OMIM:619080 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermilion, Abnormality of pri... |
ORPHA:438216 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Synophrys, U... |
OMIM:610253 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ... |
ORPHA:171433 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn... |
ORPHA:221008 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Urtica... |
ORPHA:37748 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restri... |
ORPHA:99931 |
Kabuki Syndrome 2 |
|
Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion,... |
OMIM:300867 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Zimmermann-Laband Syndrome |
|
Telecanthus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior ope... |
ORPHA:3473 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Short toe, ... |
ORPHA:39041 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blepharitis |
OMIM:602400 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Cartilage... |
ORPHA:829 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Long eyelashes, Micrognathia |
OMIM:617802 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel |
OMIM:618240 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Enlargement of the costochondral... |
OMIM:271650 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... |
ORPHA:521308 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... |
ORPHA:710 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Micrognathia, Splenomegaly, Respiratory insufficiency, Ascites, Anemia |
ORPHA:1046 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
Buratti-Harel Syndrome |
|
Epicanthus, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Sparse medial... |
OMIM:619314 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Persistence of primary teeth,... |
ORPHA:2044 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Scapular winging, Congenital hip dislocation, Delayed eruption of ... |
OMIM:278250 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... |
OMIM:212720 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplas... |
ORPHA:73223 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... |
OMIM:618265 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Narrow palate, Short upper lip, Thick vermilion border, Shor... |
ORPHA:364028 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement... |
OMIM:617809 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Small for gestational age, Petechiae, Abnormal mucociliary clearance, Spl... |
ORPHA:90051 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Epiphyseal stippling, Abnormal pelvic girdle... |
OMIM:222765 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ... |
ORPHA:2905 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Broad nasal tip, Flexion contracture, Recurrent upper r... |
ORPHA:391372 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyelashes, Absent eyebrow, Natal tooth, Cleft palate |
ORPHA:158687 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Meckel diverticulum, Ectropion |
OMIM:616395 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O... |
ORPHA:79301 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia |
ORPHA:466722 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal primary molar morpholo... |
ORPHA:1830 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short sternum, Short nose |
OMIM:222448 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared ... |
OMIM:215045 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Crani... |
ORPHA:93329 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital bilateral ptosis, Micrognathia, Delayed eruption of teeth, Ptosis |
ORPHA:73272 |
Polyrrhinia |
|
Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology |
ORPHA:141091 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy |
OMIM:614862 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Abnormal rib morphology, Ri... |
ORPHA:1988 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Irregula... |
OMIM:616716 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Club-shaped proxi... |
OMIM:108720 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Micrognathia, Cleft upper lip, Lower eyelid coloboma, Cleft palate, Thin v... |
OMIM:608572 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Cyanosis, Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li... |
ORPHA:177 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Anteverted nares, Wormian bone... |
OMIM:616897 |
Infantile Liver Failure Syndrome 1 |
|
Long toe, Hepatomegaly, Macrocytic anemia, Acute hepatic failure, Elevated hepatic transaminase, ... |
OMIM:615438 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:612714 |
14Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Hypothyroidism, Wide nasal bridge, Micrognathia |
ORPHA:261229 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Failure to thrive |
ORPHA:172 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No... |
ORPHA:454836 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Coxa valga, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue h... |
OMIM:230600 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Elevated circula... |
OMIM:101800 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Underdeveloped nasal alae, Limited elbow extension, Small hand, Sho... |
OMIM:180870 |
Mosaic Trisomy 14 |
|
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Abnormal rib mor... |
ORPHA:1703 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Osteoporosis, Short f... |
ORPHA:3409 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Metatarsus valg... |
ORPHA:3082 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Abnormality of the tonsils, ... |
ORPHA:229717 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Choanal atresia, Sagittal craniosynostosis, Bowing of the le... |
OMIM:617063 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop... |
OMIM:611717 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Myopathy, Centronuclear, 5 |
|
Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula |
OMIM:615959 |
Roifman Syndrome |
|
Hepatomegaly, Short metacarpal, Hip contracture, Eosinophilia, Splenomegaly, Short toe, Irregular... |
OMIM:616651 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... |
ORPHA:397596 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Sparse eyelashes, Micrognathia, Sp... |
OMIM:209885 |
Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Cleft palate, Thick eyebrow |
OMIM:614226 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Long clavicles, Pectus excavatum, Limitation of joint mobility, Osteopor... |
OMIM:259100 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Darier's sign, Urticaria, Increased pr... |
ORPHA:98848 |
Pontocerebellar Hypoplasia Type 1 |
|
Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Arthrogryposis multiple... |
ORPHA:2254 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... |
ORPHA:192 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Almond-shaped palpebral fissure, Epiblepharon, Submucous cleft hard palate... |
OMIM:619103 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... |
OMIM:250420 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit... |
ORPHA:2323 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol... |
OMIM:618019 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ... |
ORPHA:1354 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thoracic kyphoscoliosis, Prominent nasal tip, Overlapping toe, Tapered fin... |
OMIM:618371 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula, Pt... |
OMIM:114300 |
3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot, Radioulnar syn... |
OMIM:257920 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Thyroiditis, Hydrocel... |
OMIM:158350 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal eyebrow morphology, Abnormality of the de... |
ORPHA:90153 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:357175 |
Cinca Syndrome |
|
Hepatomegaly, Purpura, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, R... |
ORPHA:1451 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Ever... |
OMIM:615162 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Kaposiform Lymphangiomatosis |
|
Abnormal femur morphology, Cough, Ecchymosis, Hepatosplenomegaly, Abnormal spleen morphology, Ane... |
ORPHA:464329 |
Pai Syndrome |
|
Telecanthus, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Downslanted palpe... |
ORPHA:1993 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto... |
ORPHA:83601 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Abnormality of the dentition, Malabsorption, ... |
ORPHA:2315 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Bil... |
OMIM:619777 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Liver abscess, Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, ... |
ORPHA:2038 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Dental crowding, Micrognathia, Abnormality of the dentition, Synophrys, Congenital pt... |
ORPHA:476126 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Micrognathia, Brachydactyly |
ORPHA:1277 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive |
OMIM:269840 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Hypochondroplasia |
|
Brachydactyly, Depressed nasal bridge, Flared metaphysis, Short long bone, Short femoral neck, Li... |
OMIM:146000 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Broad hallux, Micrognathia, Genu valgum, Bifid uvula, Contracture of the proxima... |
ORPHA:293967 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Malar flattening, Downslanted pal... |
OMIM:608257 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Esophageal stenosis, Abnormality of the dentition, Abnormal eyelash ... |
ORPHA:1775 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Tibial bowing, Choanal stenosis, Broad ribs, Wide ant... |
ORPHA:798 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent... |
ORPHA:2314 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Short long bo... |
OMIM:620269 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Syndactyly, Anisocyto... |
OMIM:224120 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... |
OMIM:602080 |
Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth |
OMIM:146300 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ... |
OMIM:180849 |
Gapo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathi... |
OMIM:230740 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Kne... |
ORPHA:85201 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Left ventricular hypert... |
ORPHA:335 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Club... |
OMIM:618982 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, Neonatal respiratory distress, Bone-marrow foam cells, Fetal asci... |
OMIM:607625 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Re... |
ORPHA:2189 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Downslanted palpebral fissures, Sparse eyelashes, Cleft palate, Micrognathia |
OMIM:300946 |
Scedosporiosis |
|
Bronchial breath sound, Arthralgia/arthritis, Sinusitis, Osteomyelitis, Pneumonia, Bronchitis, Ab... |
ORPHA:449280 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... |
OMIM:164745 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Microcytic anemia, Hepatosplenom... |
OMIM:619750 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Cerebrocostomandibular Syndrome |
|
Epicanthus, Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Short hard ... |
OMIM:117650 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multiplex congenita, ... |
OMIM:615330 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Broad clavicles, Osteolysis involving bones of the upper limbs, ... |
ORPHA:371428 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum |
OMIM:614880 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, High ... |
OMIM:276820 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Limb-Mammary Syndrome |
|
Bifid uvula, Lacrimal duct atresia, Hypodontia, Cleft palate |
OMIM:603543 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Alpha-Mannosidosis |
|
Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Splenomegaly, Arthritis, Hip d... |
ORPHA:61 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Metatarsus ad... |
OMIM:614866 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Accessory spleen, Portal hyperte... |
OMIM:620005 |
Dystonia 28 |
|
Precocious puberty, Bulbous nose, Hypothyroidism, Clinodactyly of the 5th finger |
ORPHA:589618 |
Craniofrontonasal Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Joint laxity, Broad hallux, Cleft upper lip, Co... |
OMIM:304110 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Apnea, Anteverted nares, Depressed nasal bridge, Overlapping toe, ... |
OMIM:617301 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Patent ductus arteriosu... |
ORPHA:171839 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Nager Syndrome |
|
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Lower eye... |
ORPHA:245 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Neutropenia, Abnormal bone o... |
ORPHA:175 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... |
OMIM:618278 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Sheldon-Hall Syndrome |
|
Tarsal synostosis, Short neck, Micrognathia, Ulnar deviation of finger, Aplasia/Hypoplasia of the... |
ORPHA:1147 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Mic... |
OMIM:608799 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna... |
ORPHA:2491 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Narrow pelvis bone, Irregular vertebral endplates, Hypoplastic pelvis, Scol... |
OMIM:187760 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Blepharophimosis, Microdontia, Ptosis |
ORPHA:2728 |
Mycetoma |
|
Osteomyelitis, Abnormality of the hand, Abnormal thorax morphology, Bone cyst, Osteoporosis, Abno... |
ORPHA:2583 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Arachnodactyly, Micrognathia, High, narrow palate, Dyspn... |
ORPHA:2707 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B... |
OMIM:600430 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Short philtrum, Blepharophimosis, Retrognathia, Smooth philtrum |
ORPHA:293725 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Malar ... |
ORPHA:921 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... |
ORPHA:2215 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter |
ORPHA:142 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Joint laxity, Lipodystrophy, Lipo... |
OMIM:269880 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Cooper-Jabs Syndrome |
|
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal ri... |
ORPHA:1488 |
Six2-Related Frontonasal Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Premature posterior fontanelle c... |
ORPHA:488437 |
Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ... |
ORPHA:95717 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premature posterio... |
ORPHA:3369 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure |
ORPHA:168486 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met... |
ORPHA:56304 |
Atelis Syndrome 1 |
|
Prominent nose, Carious teeth, Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia |
OMIM:620184 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose ti... |
ORPHA:199276 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tented upper lip vermilion, Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, ... |
OMIM:616505 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Wide anterior fontanel, Short nose, Congenital hip dislocation, Contracture of the proximal inter... |
ORPHA:457279 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruising susceptibility, H... |
ORPHA:231401 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal form of the vertebral bodies, Genu valg... |
ORPHA:93160 |
Galloway-Mowat Syndrome 6 |
|
Clinodactyly of the 5th finger, Anteverted nares, Hypothyroidism, Decreased response to growth ho... |
OMIM:618347 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Abnormal metaphysis morphology, Thrombocytopenia |
ORPHA:290 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Urticaria, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Absent lower eyelashes, Keratoconjunctivitis sicca... |
OMIM:620370 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Abnormal fibula morphology, Cleft... |
ORPHA:1812 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Smooth philtrum, Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exagg... |
OMIM:608670 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism, Choanal atresia |
OMIM:613970 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia, Flexion contracture, Hypothyroidism |
OMIM:619851 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Alopecia, Sparse ... |
ORPHA:2067 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hype... |
ORPHA:3206 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Hypoplastic ilia... |
OMIM:617895 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Camptodactyly of finger, Micrognathia, Thyroid agenesis, Cryptorchidism, Prom... |
ORPHA:3047 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Epicanthus, Micrognathia, Sparse eyebrow, Cleft palate, Downslanted palpebral fissures, Bifid uvula |
OMIM:606164 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Prominent nasal bridge, Micrognathia, Long fingers, Wide anterior ... |
ORPHA:401973 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Downturned corners of mouth, Short philtrum, Wormian bones, Spar... |
OMIM:601224 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure to thrive, Dec... |
OMIM:618048 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... |
ORPHA:363528 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Failure to thrive in infancy |
OMIM:619175 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ... |
OMIM:216400 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Overlapping toe, Sing... |
OMIM:619148 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hooded eyelid, Dental crowding, Micrognathia, Submucous cle... |
ORPHA:96170 |
Hawkinsinuria |
|
Hypothyroidism |
ORPHA:2118 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivo... |
OMIM:226980 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Diabetes mellitus, Depressed nasal bridge, Choanal atresia, Sagittal craniosynostosis... |
OMIM:610199 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:83313 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... |
OMIM:224400 |
Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ... |
ORPHA:1194 |
Postaxial Acrofacial Dysostosis |
|
Micrognathia, Non-midline cleft lip, Ectropion of lower eyelids, Cleft palate, Eyelid coloboma, M... |
ORPHA:246 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... |
OMIM:601701 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Pneu... |
OMIM:614700 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Short... |
OMIM:268400 |
Distal Deletion 17Q |
|
Hepatomegaly, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand,... |
ORPHA:1597 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fra... |
OMIM:618188 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Camptodactyly of finger, Tachypnea, Respiratory failure, Failure to th... |
OMIM:604320 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia |
OMIM:212750 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxe... |
OMIM:610910 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Recurrent fractures, Sp... |
OMIM:611490 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Flexion contracture |
OMIM:609180 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Choanal atresia, Convex nasal ridge, Pectus... |
OMIM:613385 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... |
OMIM:156400 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Bilateral single transverse palmar creases... |
ORPHA:1786 |
Native American Myopathy |
|
Micrognathia, Bilateral ptosis, Cleft palate, Downturned corners of mouth, High palate, Submucous... |
ORPHA:168572 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Trach... |
OMIM:245650 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Small hand, Wide nasal bridge, Pectus carinatum, Broad finger, Clinodactyly, Sh... |
OMIM:614684 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Wrist swelling, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara,... |
ORPHA:2848 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,... |
OMIM:211380 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... |
ORPHA:2257 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypopituitarism, Hypothyroidism, Joint hyp... |
OMIM:619013 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Tachypnea, Respiratory failure, Death in childhood, Failure to thrive, Anemia |
OMIM:615838 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... |
OMIM:610333 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Obesity, Cholestasis, Cone-shaped epiphys... |
OMIM:615630 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... |
ORPHA:958 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Arachnodactyly, Camptodactyly of finger |
ORPHA:1883 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Micrognathia |
ORPHA:99742 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Osteoporosis |
OMIM:614838 |
Distal Deletion 12Q |
|
Overlapping toe, Broad hallux, Anteverted nares, Micrognathia, Single transverse palmar crease, W... |
ORPHA:96149 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nos... |
OMIM:617796 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Large tarsal bones, Micrognathia,... |
OMIM:215150 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T lymph... |
ORPHA:277 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... |
ORPHA:882 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni... |
OMIM:620210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... |
OMIM:220110 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Broad nasal tip, Abnormal rib morphology, Small hand, Broad columella, Retrognathia, ... |
ORPHA:488434 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Tapered finger, Prominent nose,... |
OMIM:618829 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Pectu... |
ORPHA:163654 |
Li-Campeau Syndrome |
|
Cryptorchidism, Hypothyroidism, Patellar hypoplasia |
OMIM:619189 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal... |
ORPHA:508533 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... |
ORPHA:91347 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Craniosynost... |
OMIM:613451 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Synophrys, Abnormality of dental eruption, Wide mouth, Everted... |
ORPHA:96092 |
Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Hypopla... |
ORPHA:3015 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Anteverted nares, Broad nasal tip, Concave nasal ridge, Broad thumb, Broad distal phalanx of fing... |
OMIM:617763 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... |
OMIM:240300 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter... |
OMIM:613845 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... |
OMIM:616602 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Achilles tendon contracture, Macroglossia, Restrictive venti... |
OMIM:606612 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutrope... |
OMIM:616738 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology, Paget disease of bone |
OMIM:167320 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Microgn... |
OMIM:619879 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... |
OMIM:256550 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive ... |
OMIM:601457 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Scapular winging, Depressed nasal bridge |
ORPHA:26791 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Death in infancy, Elevated hepatic transaminase, Tapered toe, Elevated ci... |
OMIM:608836 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Micrognathia, Dental malocclusion, Prominent nasal tip, Hypothyroidism |
OMIM:610883 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Sandal gap, Micrognathia, Hepatosplenomegaly, Knee f... |
ORPHA:79322 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima... |
OMIM:600972 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Tapered finger, Wide nasal bridge, Congenital hypothyroidism |
ORPHA:352530 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl... |
ORPHA:568 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy... |
OMIM:616113 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni... |
OMIM:231095 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... |
ORPHA:324964 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... |
OMIM:613490 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Renpenning Syndrome |
|
Mandibular prognathia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Prominent no... |
ORPHA:3242 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Pulmonary ar... |
OMIM:230800 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Micrognathia, High, narrow pal... |
ORPHA:369950 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... |
OMIM:619377 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Chronic irritative conjunctivitis, Sparse eyebrow, Cleft hard palate, Cl... |
ORPHA:69085 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Respiratory insufficiency, Weight loss, Lymphadenopathy, ... |
ORPHA:391 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Prominent fingertip pads, Splenomegaly, Recurrent pneumonia, Clinodactyly of the 5t... |
OMIM:615637 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Epicanthus, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal... |
ORPHA:363444 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Telecanthus, Palpebral edema, Abnormality of the dentition, Eyelid col... |
ORPHA:2036 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Abnormal shape of the palpe... |
ORPHA:261652 |
Felty Syndrome |
|
Hepatomegaly, Sinusitis, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Recurrent ... |
ORPHA:47612 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancrea... |
ORPHA:79312 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Wide anterior fontanel, Depressed nasal bridge |
OMIM:231680 |
Proteus Syndrome |
|
Depressed nasal bridge, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thi... |
OMIM:176920 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
Toriello-Carey Syndrome |
|
Micrognathia, Wide anterior fontanel, Narrow chest, Clinodactyly, Short nose, Brachydactyly |
ORPHA:3338 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os... |
OMIM:612301 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Thrombocytopenia, Camptodactyly, Decreased circulating T4 concentration, Hypothyr... |
OMIM:608104 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure |
OMIM:613435 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Wormian bones |
OMIM:309400 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Sparse eyelashes, Hoode... |
OMIM:612863 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... |
OMIM:619386 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... |
OMIM:620282 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal b... |
ORPHA:140 |
C Syndrome |
|
Hepatomegaly, Short metacarpal, Toe syndactyly, Fused sternal ossification centers, Micromelia, M... |
OMIM:211750 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Micrognathia, Pectus excavatum, Cryptorchidism, Delayed puberty, Hypothyr... |
OMIM:616817 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Flexion contracture, Cough, Abnormal pattern of... |
ORPHA:77260 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Clubbing, Bronchiectasis, Pneum... |
OMIM:612387 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormal nasopharynx morphology, Depressed nasal bridge, Micrognathia,... |
OMIM:157900 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Micrognathia, Carious teeth, Velophar... |
OMIM:223370 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Limb joint contracture, Craniosynostosis, Ankle flexion contracture... |
ORPHA:284417 |
Lig4 Syndrome |
|
Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Wide nasal bridge, Acute leukemia, Lymp... |
ORPHA:99812 |
Coffin-Siris Syndrome 6 |
|
Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum,... |
OMIM:617808 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Gracile Bone Dysplasia |
|
Death in infancy, Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, A... |
OMIM:602361 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... |
ORPHA:3472 |
Monosomy 18P |
|
Micrognathia, Pectus excavatum, Carious teeth, Wide nasal bridge, Enlarged thorax, Hypothyroidism... |
ORPHA:1598 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... |
ORPHA:2928 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism |
ORPHA:2349 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Splenomegaly, Flexion ... |
OMIM:617591 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis |
ORPHA:91130 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Anteverted nares, Depress... |
OMIM:610015 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal thorax morphology, Hip dislocation, Mesomeli... |
OMIM:605274 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Death in infancy, Abnormally ossified vertebrae, Prematur... |
ORPHA:1318 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Thin upper lip vermilion, Delayed cranial suture closure, Severe generalized ost... |
OMIM:210730 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Bilateral cleft lip, Mi... |
OMIM:612651 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath... |
OMIM:609029 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi... |
OMIM:603909 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc... |
OMIM:615560 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Respiratory insuffic... |
ORPHA:70 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Hip dislocation, Rickets, Corneal scarring... |
OMIM:309000 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Broad hallux phalanx, Thin upper lip vermilion, Inguinal hernia, Sandal gap, Single t... |
ORPHA:363611 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Acrocyanosis |
ORPHA:3165 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Carious teeth, Hypoplasia o... |
ORPHA:96097 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Abnormal rib morphology, Fused cerv... |
ORPHA:2522 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Long thumb, Failure to t... |
OMIM:619151 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring |
OMIM:610965 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Reduced bon... |
ORPHA:2108 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Microgna... |
ORPHA:94068 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Splenomegaly, Elbow flexion contracture, Wide nasal bridge, Abnormal sternum morp... |
OMIM:618440 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia... |
OMIM:182250 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Flexion contracture of finger, Exaggerated cupid's bow, Anteverted nares,... |
ORPHA:254528 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Micrognathia |
OMIM:243440 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... |
OMIM:211600 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,... |
OMIM:613101 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... |
ORPHA:79500 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Cough, Emphysema, Hepatic steatosis, Joint l... |
OMIM:613658 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia |
ORPHA:464453 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Clubbing of fingers, Midclavicular hypoplasia, Narrow mouth, Broad thumb, Br... |
ORPHA:79076 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... |
ORPHA:2588 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Anteverted nares, Broad nasal tip, Pectus excavatum, Wide anterior fontanel, Micrognathia |
OMIM:618548 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Wide nasal bridge, Hypohidrosis, Hypothyroidism, Short distal phalanx of fing... |
ORPHA:1563 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Hamartoma of tongue, Short toe, Patent ductus a... |
OMIM:269860 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
Snakebite Envenomation |
|
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis, Hypopitu... |
ORPHA:449285 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, ... |
ORPHA:1865 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th fin... |
OMIM:300855 |
Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ... |
OMIM:150400 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Highly arched eyebrow, Micrognathia, Submucous cleft soft palate, Ptosis |
ORPHA:2282 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Submucous cleft hard palate, Upslanted palpebral fissure, D... |
OMIM:619680 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Micrognathia, Cleft palate, Upsl... |
OMIM:247200 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... |
OMIM:618495 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim... |
ORPHA:2796 |
Joubert Syndrome 33 |
|
Splenomegaly, Apnea, Syndactyly |
OMIM:617767 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, High, narrow palate, Patent ductus arteriosus, Long metacarp... |
OMIM:117550 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High palate, Narrow mout... |
OMIM:123790 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Inguinal hernia, Abnormal morphology of ulna, Abnormality of the dentition... |
ORPHA:93 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Broad clavicles, 2... |
OMIM:269500 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Alveolar Echinococcosis |
|
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Hepatic cysts, ... |
ORPHA:284 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Joint stiffness, Splenomegaly, Weight loss, Hepatosplenomegaly, Abnormal... |
ORPHA:354 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Iron deficiency anemia, Hypothyroidism, Wide nasal bridge |
OMIM:607906 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Respiratory insufficiency, Anemia |
ORPHA:28 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Sandal gap, Anteverted nares, Craniosyn... |
ORPHA:254346 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Micrognathi... |
OMIM:261540 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar hyperkeratosis, Conical i... |
OMIM:257980 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... |
ORPHA:137914 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Thrombocytopenia, Splenomegaly, Metaphyseal widening, Clubbin... |
OMIM:617303 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, High palate, Long eyelashes, Palpebral thickening, Open... |
ORPHA:1675 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Brachydactyly, Death in infancy, Small for gestational age, Microretrogna... |
OMIM:615789 |
Opsismodysplasia |
|
Short metacarpal, Anteverted nares, Anterior rib cupping, Depressed nasal bridge, Rhizomelia, Squ... |
OMIM:258480 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... |
OMIM:620249 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia |
OMIM:243150 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ... |
ORPHA:453510 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... |
OMIM:250250 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Mpdu1-Cdg |
|
Wide anterior fontanel |
ORPHA:79323 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Respiratory failure, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lacrimal duct atresia, Delayed eruption of primary teeth |
OMIM:300952 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure |
ORPHA:1861 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Osteopetrosis, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Flushing, Hepatomegaly, Neutrophilia, Leukocytosis, Osteopor... |
ORPHA:98849 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Pectus excavatum, Pheochromocytoma, Elevated circulating calcitonin concentration, ... |
OMIM:162300 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Urticaria, Arthritis, Restrictive ventilator... |
ORPHA:575 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... |
ORPHA:3342 |
Transaldolase Deficiency |
|
Abnormal respiratory system physiology, Telangiectasia, Anemia, Hepatosplenomegaly, Cirrhosis, Pr... |
ORPHA:101028 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Recurrent fractures, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea,... |
OMIM:239200 |
Leigh Syndrome |
|
Respiratory failure, Failure to thrive, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca... |
ORPHA:1901 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... |
OMIM:616435 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Inguinal hernia, Joint stiffness, Carious teeth,... |
OMIM:253200 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia, Dyspnea |
ORPHA:75563 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Faciocardiomelic Syndrome |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Slender ... |
OMIM:612731 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... |
OMIM:239000 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic... |
OMIM:613717 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos... |
ORPHA:828 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Thick lower lip vermilion, Macroglossia... |
OMIM:309900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossific... |
OMIM:618395 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Petechiae, Elevated circulating aspartate aminotransferase co... |
OMIM:170100 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Oral mucosal blisters, Atrophic scars, Palmoplantar keratoderma, Smoo... |
ORPHA:79396 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu... |
OMIM:255800 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cough, Dyspnea, Elev... |
OMIM:615486 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Allergic rhinitis, Asthma, 2-3 toe syndactyly, Delayed pubic bone ... |
OMIM:618162 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar... |
OMIM:122470 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... |
ORPHA:98913 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Lipoid pneumonia |
OMIM:620326 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Abnormal metacarpal morphology, ... |
ORPHA:2095 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... |
ORPHA:3138 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... |
OMIM:615952 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo... |
OMIM:616462 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Pectus excavatum, Large fontane... |
OMIM:612940 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Craniosynostosis, Micrognathia, Wide a... |
OMIM:612289 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Coxa valga, Micrognathia, Splenomegaly, Long fingers, Flexion contracture, Limb und... |
OMIM:608149 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Broad hallux, Dental crowding, Avascular necrosis of the capital femor... |
ORPHA:353281 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Prominent nasal bridge, Limitation of joint mobility, Abnormal rib mor... |
ORPHA:3068 |
Seckel Syndrome 7 |
|
Prominent nose, Abnormal carpal morphology, Central hypothyroidism, Hip dysplasia, Clinodactyly o... |
OMIM:614851 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Flexion co... |
ORPHA:85212 |
Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Dental ma... |
ORPHA:1855 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Low anterior hairline, Coxa vara, Pectus carinatum, High palate, Wrist ... |
ORPHA:800 |
Jung Syndrome |
|
Depressed nasal bridge, Hypothyroidism, Wide nasal bridge |
ORPHA:2321 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas... |
OMIM:614900 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating luteinizing hormon... |
OMIM:609441 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg... |
OMIM:616719 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation |
OMIM:603689 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced n... |
OMIM:241600 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contr... |
OMIM:224690 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Prominent superficial veins, Intermittent thrombocytopenia, Peri... |
OMIM:612541 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Odontogenic keratocysts of the jaw, Narrow mouth, Orofacia... |
ORPHA:77301 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Anemia |
ORPHA:2930 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Abnormal hai... |
ORPHA:794 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, Short thumb,... |
ORPHA:436003 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hip dislocation, Wide nasal bridge, Neutropenia, Limb undergrowth, Joint contracture,... |
OMIM:618005 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, N... |
OMIM:192430 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... |
ORPHA:91359 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr... |
OMIM:139210 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... |
OMIM:173800 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... |
OMIM:619479 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long fingers, Acrocyanosis, Joint contracture of the 5th finger, Clinodactyly of ... |
OMIM:614407 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal dyspnea, Left vent... |
ORPHA:563 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Highly arched eyebrow, Synophrys, Gingival over... |
OMIM:135500 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... |
ORPHA:3260 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
Lig4 Syndrome |
|
Pancytopenia, Prominent nose, Cryptorchidism, Wide nasal bridge, Acute lymphoblastic leukemia, Ty... |
OMIM:606593 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Vertebral segmentation d... |
ORPHA:1323 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Respiratory ins... |
ORPHA:746 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Clinodacty... |
ORPHA:397590 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Joint hype... |
OMIM:616007 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Apnea, Rec... |
ORPHA:667 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Micromelia, Osteomalacia, Recurr... |
ORPHA:2176 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... |
ORPHA:54595 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Recurrent respiratory infections, Dental crowding, Congenital... |
ORPHA:2020 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Metatarsus adductus, Hypoplasia of the maxilla, Recurrent upper respi... |
ORPHA:293939 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Abnormal thorax morphology, Congenital hyp... |
OMIM:601427 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Phaver Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu... |
ORPHA:2876 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi... |
OMIM:614299 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
Abetalipoproteinemia |
|
Osteopenia, Hepatomegaly, Reticulocytosis, Elevated hepatic transaminase, Acanthocytosis, Cardiom... |
ORPHA:14 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Sparse hair, Decreased skull ossification,... |
ORPHA:1662 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Recurrent fract... |
OMIM:309583 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Asthma, Lymphadenopathy, Failure to thrive |
OMIM:607271 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... |
OMIM:310200 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Hip dislocation, Large fontan... |
OMIM:219150 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Gray Platelet Syndrome |
|
Splenomegaly, Bruising susceptibility, Epistaxis, Thrombocytopenia |
ORPHA:721 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth... |
ORPHA:171430 |
Alg1-Cdg |
|
Respiratory failure, Limitation of joint mobility |
ORPHA:79327 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Flexion co... |
ORPHA:98905 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Joint stiffness, Abnormality of the humerus, Micrognathia, Abnormal ti... |
ORPHA:2496 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Narrow nose, Short iliac bones, Metaphyseal sclerosis... |
OMIM:607944 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, S-shaped palpebr... |
OMIM:229400 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp... |
OMIM:618459 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Diabetes mellitus, Foot joint contracture, Congenital hip dislocation, Proximal placement of thum... |
ORPHA:456312 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Urticaria, Reduced natural killer cell cou... |
OMIM:616050 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Depressed nasa... |
ORPHA:647 |
Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal b... |
OMIM:218040 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia |
OMIM:607598 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Cutis marmorata, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot oligodacty... |
OMIM:616589 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Pneumothorax, Respiratory failure, Bone marrow hypocellularity, In... |
ORPHA:445038 |
Stickler Syndrome, Type I |
|
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... |
OMIM:108300 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Respiratory distress, Death in infancy, Respiratory failure, High palate, ... |
OMIM:620278 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Anteverted nares, Rhizomelia, Broad femoral neck, Micrognathia, S... |
OMIM:611209 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda... |
OMIM:615503 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Hip dislocation, Wormian bones, Delayed cranial suture closure, Adducte... |
OMIM:616603 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Wide nose, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar mus... |
ORPHA:2463 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long ... |
ORPHA:1519 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Overlapping fingers, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Clubbing, Weight loss, Hypoxemia, Restrictive ventilatory defect, Co... |
ORPHA:747 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Short thorax, Talipes equinovarus |
OMIM:618845 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Short philtrum, Genu varum, Microretrognathia... |
OMIM:616268 |
B4Galt1-Cdg |
|
Splenomegaly, Hypothyroidism, Wide nasal bridge |
ORPHA:79332 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Advanced eruption of ... |
ORPHA:818 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Lymphadenopathy, Arthritis, Coombs-p... |
OMIM:304790 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypothyroidism,... |
OMIM:609053 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... |
OMIM:619281 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Micrognathia, Tapered finger, Wide nasal bridge, Joint hyperflexibility, Metatarsus v... |
ORPHA:2479 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Lymphopenia, Recurrent respiratory infections, Finger syndactyly, Abno... |
ORPHA:2136 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Shoulder dislocation, Microdontia, Dis... |
OMIM:245600 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98754 |
Opitz Gbbb Syndrome |
|
Wide anterior fontanel, Abnormal nasopharynx morphology, Anteverted nares, Wide nasal bridge |
OMIM:300000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal metaphysis morph... |
ORPHA:935 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Spina bifida occulta, Delayed closure of the anterior fontanelle, Lambdoida... |
OMIM:618736 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Mirage Syndrome |
|
Petechiae, Rocker bottom foot, Radial club hand, Cryptorchidism, Anemia, Leukopenia, Talipes equi... |
OMIM:617053 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Short hallux, Coxa valga, Osteoporosis... |
ORPHA:1517 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger |
OMIM:309620 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia, Micrognathia, Cryptorchidism, Dental malocclusion, Wide nasal bridge, Hypothyroidism |
ORPHA:85321 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence... |
ORPHA:97360 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Limited mobili... |
OMIM:222300 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... |
ORPHA:333 |
Tolchin-Le Caignec Syndrome |
|
Hooded eyelid, Micrognathia, Submucous cleft hard palate, Nasolacrimal duct obstruction, High pal... |
OMIM:618971 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Respiratory insufficiency, Joi... |
ORPHA:2655 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, High, nar... |
ORPHA:2879 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Mediastinal lymphadenopathy, Dyspnea, Hemothorax, Lymphadenopathy, Hypoxemia, Clubbing ... |
ORPHA:199241 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Carious teeth, Esophageal stricture, Nasolacrimal duct obstruction, Microdontia... |
OMIM:224230 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Atelectasis, Flex... |
ORPHA:258 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc... |
ORPHA:739 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Mandibular prognathia, Enlarged ovaries, Wide nose, Anteverted nares, Pr... |
ORPHA:769 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduce... |
OMIM:618108 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter... |
OMIM:119500 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary... |
ORPHA:353277 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, H... |
ORPHA:79477 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:98793 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm ... |
ORPHA:508542 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Dyspnea, Hypoplasi... |
OMIM:242900 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger, Anemia |
OMIM:165660 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Hyperthyroidism, Decreased response to growth... |
ORPHA:488632 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario... |
OMIM:131300 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short 5th metacarpal |
ORPHA:66518 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... |
OMIM:619463 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Dental malocclusion, Reduced bone mineral density, Abnormal pelvic girdle ... |
ORPHA:3079 |
Lead Poisoning |
|
Delayed eruption of teeth, Small for gestational age, Miscarriage, Asthma, Cranial hyperostosis, ... |
ORPHA:330015 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers... |
ORPHA:3304 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Wide nasal bridge, Short 4th metacarpal, ... |
OMIM:618569 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight... |
ORPHA:90060 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177904 |
Prolidase Deficiency |
|
Hepatomegaly, Arachnodactyly, Micrognathia, Splenomegaly, Erythema, Genu valgum, Reduced bone min... |
ORPHA:742 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Respiratory failure, Stillbirth, Decreased liver function, Death ... |
OMIM:614922 |
Keutel Syndrome |
|
Calcification of cartilage, Recurrent sinusitis, Short distal phalanx of finger |
ORPHA:85202 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Submucous cleft hard palate, Genu valgum, Deep palmar crease, Palmop... |
ORPHA:1340 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormon... |
ORPHA:177901 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Joint stiffness, Splenomegaly, Genu valgum, Abnormal metaphysis ... |
ORPHA:583 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice, Cutan... |
OMIM:618892 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Micrognathia, Abnormal eyel... |
ORPHA:2671 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Respiratory distress, Neutrophilia, Failure to thrive in infancy, Absce... |
OMIM:612852 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2962 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Hypothyroidism |
ORPHA:752 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o... |
OMIM:174300 |
Down Syndrome |
|
Joint laxity, Sandal gap, Depressed nasal bridge, Depressed nasal ridge, Type II diabetes mellitu... |
ORPHA:870 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Down-sloping shoulders, Stridor, Hammertoe, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hy... |
ORPHA:300298 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarc... |
ORPHA:412057 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism, Rheumatoid arthritis |
ORPHA:48377 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Abnormality of the dentition, Absent eyelashes, Open bite, Micrognath... |
OMIM:115150 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Scapular winging, Diabetes mellitus, Macrocytic anemia, Hypogonadism, Hypothyroidism |
ORPHA:98673 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Abnormality of cartilage of external ear, Tachypnea, Failure to thr... |
ORPHA:3426 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Shor... |
OMIM:263750 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Neonatal respiratory distress, Abnormal T cell subset distribution, Clinodactyly of t... |
ORPHA:221139 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, Pectus excavatum, High, nar... |
OMIM:309800 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Hypothyroidism, Choanal atresia |
ORPHA:1923 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, F... |
ORPHA:85408 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Desmosterolosis |
|
Epicanthus, Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Narr... |
ORPHA:35107 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p... |
ORPHA:443811 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Depressed nasal bridge, Camptodactyly of finger, Delayed closure of the anterio... |
OMIM:607872 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Gingival bleedin... |
ORPHA:169805 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Downturned corners of mouth, Cl... |
OMIM:180860 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia, Cryptorchidism |
ORPHA:85173 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ... |
OMIM:616005 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Narrow nasal bridge, Premature pubarche, Hypogonadotropic hypogonadism, Precocious pu... |
ORPHA:398079 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Decreased response to growth hormone stimulation test, Craniosynostosis, Micrognathia... |
OMIM:614114 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema |
ORPHA:70578 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthritis |
OMIM:611762 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Microcytic anemia |
ORPHA:324737 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism, Delayed puberty,... |
ORPHA:95496 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal bridge, Posteri... |
ORPHA:1797 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Truncal obesity, Narrow pelvis bone, Joint hyperflexibility, Abnormal epip... |
ORPHA:2637 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int... |
ORPHA:98914 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int... |
ORPHA:590 |
Familial Benign Copper Deficiency |
|
Diaphyseal thickening, Anemia |
ORPHA:1551 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis |
ORPHA:42642 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholestasis, Hypochromic ... |
ORPHA:440713 |
Chromosome 1P35 Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Increased femoral anteversion, Wide nasal bridge, Congenital hypoth... |
OMIM:617930 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Femoral bowing, Short long bone, Broad ribs, Narrow... |
OMIM:617022 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Erythema, Prolonged neonata... |
OMIM:225750 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Micrognat... |
ORPHA:84 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis |
ORPHA:251004 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Femoral bowing, St... |
OMIM:615415 |
Ohdo Syndrome, Sbbys Variant |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, Long thumb, Hypothyroidism, L... |
OMIM:603736 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Choanal atresia, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutro... |
ORPHA:228426 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio... |
OMIM:134780 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing... |
OMIM:619149 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus... |
ORPHA:64755 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Downturne... |
ORPHA:199 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... |
OMIM:619127 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Prominent metopic ridge, Delayed eruption of teeth, Broad h... |
OMIM:614188 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ... |
OMIM:615122 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Pectus carina... |
ORPHA:955 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Ddost-Cdg |
|
Osteopenia, Primary hypothyroidism |
ORPHA:300536 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Failure... |
ORPHA:444013 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Osteoporo... |
ORPHA:79404 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad palm,... |
OMIM:277600 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure ... |
OMIM:614520 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Clubbing, Iron deficiency anemia, Clubbing of fingers, Thromboc... |
OMIM:226300 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:619908 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Hypothyroidism |
ORPHA:213 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... |
ORPHA:731 |
Listeriosis |
|
Respiratory distress, Brain abscess, Liver abscess, Miscarriage, Abscess, Stiff neck, Osteomyelit... |
ORPHA:533 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Wide nose, Tapered finger, Micrognathia, Contracture of the distal interphalangeal ... |
OMIM:605130 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Small for gestational age, Overlapping toe, Microcytic anemia, Leukoc... |
ORPHA:99843 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
Timothy Syndrome |
|
Depressed nasal bridge, Hypothyroidism, Cutaneous syndactyly |
OMIM:601005 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:610829 |
Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca... |
OMIM:133540 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
Erythrocytosis, Familial, 1 |
|
Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit... |
OMIM:133100 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... |
ORPHA:158029 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature loss of teeth... |
OMIM:102500 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Asthma, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis |
ORPHA:217390 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis |
OMIM:616937 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Wide anterior fontanel, Hip dislocation, Pathologic fracture, Delayed cranial sutur... |
ORPHA:90349 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism |
ORPHA:3282 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Duodena... |
OMIM:619227 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Cyanosis, ... |
OMIM:306955 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen... |
ORPHA:2519 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic gird... |
ORPHA:2115 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Dep... |
ORPHA:2311 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Cutis marmorata, Tapered finger, Micrognathia, Erythroid hypoplasia, S... |
OMIM:620072 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Fra... |
ORPHA:496641 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Toe syndactyly, Decreased response to growth hormone stimulation test, Bilateral ca... |
OMIM:619234 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ... |
ORPHA:3404 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Pectus excavatum, ... |
OMIM:231050 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, ... |
ORPHA:540 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Neonatal respiratory distress, Monkey wrench femoral neck, Micro... |
OMIM:618870 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Large ... |
OMIM:300868 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Pre... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Patent ductus arter... |
OMIM:607143 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Telangiect... |
OMIM:235200 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Thick nasal alae, Broad nasal tip, Hypoplasia of the maxilla, Abn... |
ORPHA:79345 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Short long bone, Talipes e... |
OMIM:224410 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Lip pit, Preaxial hand polydac... |
OMIM:601707 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Bronchospasm, Short finger, ... |
OMIM:612813 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone |
ORPHA:3074 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ... |
OMIM:302960 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Limb under... |
OMIM:616541 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Petechiae, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Lymphadenop... |
ORPHA:520 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in infancy, Splenomegaly, Leukocytosis, Respiratory insufficiency, Death in adolescence, De... |
OMIM:618042 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neutropenia, Neonatal death, Re... |
OMIM:617248 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Pectus excavatum, Cryptorchidism, Abnormal 5th finger morphology, Symphalangism of th... |
ORPHA:1439 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Limitation of joint mobility, Respiratory insufficiency, Joint hyperflexibility, Abno... |
ORPHA:93274 |
Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology, Rheumato... |
ORPHA:589 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron... |
ORPHA:1667 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Eyelid coloboma, Oligodontia, Widely spaced teet... |
OMIM:615873 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Synoph... |
OMIM:602535 |
Mosaic Trisomy 8 |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Broad nasal tip, Patellar apl... |
ORPHA:96061 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology |
ORPHA:1334 |
Opitz Gbbb Syndrome |
|
Natal tooth, Telecanthus, Micrognathia, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ankyl... |
ORPHA:2745 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre... |
OMIM:261680 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippling, Abnormal hip... |
ORPHA:584 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:241800 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Petechiae, Apnea, Cardiomegaly, Micrognathia, Splenomegaly, H... |
OMIM:608013 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Maternal diabetes, Midnasal stenosis, Pan... |
ORPHA:280200 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Thick eyebrow, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Pectus carinatum... |
OMIM:619383 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Cyanosis, Small for gestational age, Cardiomegaly, Tachypnea, Hypoxemia, Failure to... |
ORPHA:860 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death in childhood, ... |
OMIM:601847 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Cryptorchidism, Metaphyseal widening, Hip d... |
OMIM:620083 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Sandal gap, Proximal placement of thumb, Micrognathia, Long finger... |
ORPHA:79324 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Prominent nose, ... |
ORPHA:3464 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Osteoporosis... |
OMIM:612199 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Supernumerary too... |
ORPHA:733 |
Reni Syndrome |
|
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypothyroidism |
OMIM:617575 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs,... |
ORPHA:3301 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Mandibular prognathia, Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Hamartoma of tongue, Micrognathia, Cleft lip, Supern... |
OMIM:615948 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate |
ORPHA:2165 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Dyspnea, Osteolysis, Wei... |
ORPHA:35687 |
Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ... |
ORPHA:125 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, B lymphocytopenia, Chronic sinusitis, Abnormal T cell morphology |
OMIM:612692 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Eosinophilia, Asthma, Respiratory insufficiency, Weight loss, Urticar... |
ORPHA:183 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Overlapping toe, Pectus excavatum, Splenomegaly, Bulbous nose, Hip dislocation, Sho... |
OMIM:618268 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
Neuhauser Syndrome |
|
Osteopenia, Arachnodactyly, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Genu valgum,... |
OMIM:249310 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Epicanthus, Telecanthus, Highly arched eyebrow, Cleft lip, Thick lower... |
OMIM:280000 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Upslanted palpebral fissure, Wide mouth, Thick vermilion bo... |
ORPHA:2896 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:610678 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:187300 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Anteverted nares, Thoracolumbar kyphoscoliosis, D... |
OMIM:252500 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Mi... |
OMIM:608779 |
Refsum Disease |
|
Short metacarpal, Splenomegaly, Respiratory insufficiency, Hammertoe, Abnormal epiphysis morphology |
ORPHA:773 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Death in infancy, Elevated ... |
OMIM:300972 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism, Premature graying of hair, Emp... |
OMIM:620365 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Micrognathia, Choanal stenosis, Hypothyroidism, Broad hallux, Depressed nasal... |
OMIM:620186 |
Monosomy 18Q |
|
Mandibular prognathia, Arachnodactyly, Joint hypermobility, Depressed nasal bridge, Tapered finge... |
ORPHA:1600 |
Achondrogenesis |
|
Micrognathia, Abnormality of bone mineral density, Micromelia, Abnormal enchondral ossification |
ORPHA:932 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... |
ORPHA:365 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Joint stiffness, Mediastinal lymphadenopathy, Splenomegaly, Dyspn... |
ORPHA:809 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Ost... |
ORPHA:264580 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormi... |
OMIM:617821 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism |
ORPHA:254913 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Respiratory insufficiency, Respira... |
OMIM:252010 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Small h... |
ORPHA:3121 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... |
ORPHA:1572 |
Slc39A8-Cdg |
|
Osteopenia, Failure to thrive in infancy, Sudden episodic apnea, Craniosynostosis, Elbow flexion ... |
ORPHA:468699 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Micr... |
ORPHA:193 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Brachydactyly |
OMIM:613819 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Small for gestational age, Flexion contracture, Limb undergrowth, ... |
ORPHA:79243 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala... |
OMIM:263650 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... |
ORPHA:160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Mandibular prognathia, Contracture of the proximal interphalangeal joint of th... |
OMIM:300998 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Gingival ... |
OMIM:301072 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Splenomegaly, Abnormality of the par... |
ORPHA:2969 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Depressed ... |
ORPHA:261344 |
Leigh Syndrome |
|
Failure to thrive, Multiple joint contractures, Respiratory failure, Neutropenia, Hepatic failure... |
ORPHA:506 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... |
OMIM:616216 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cleft lip, Synophrys, Lacrimal duct atresia, Dental malocclusion, Cle... |
OMIM:603457 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thro... |
ORPHA:729 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Increased susceptibil... |
OMIM:312150 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Broad hallux, Sandal gap, Single transve... |
ORPHA:404448 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocyto... |
ORPHA:1304 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit... |
OMIM:601803 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing |
OMIM:615066 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... |
OMIM:314390 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Wide nose, Broad hallux, Prominent nasal bridge, Convex nasal ridge, Micrognathia, Ge... |
ORPHA:251028 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Tapered finger, Cryptorchidism, Short finger, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Dyspnea, Clubbing, Hypoxemia |
ORPHA:439 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Cryptorchidism... |
OMIM:600901 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morphology, Sho... |
ORPHA:1295 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the ma... |
OMIM:608328 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... |
OMIM:214500 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossificat... |
OMIM:109400 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Arachnodactyly, ... |
ORPHA:83617 |
Adiposis Dolorosa |
|
Arthritis, Hypothyroidism, Xerostomia |
ORPHA:36397 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog... |
ORPHA:1120 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Hyposegmentation of neutrophil nuclei, Brachyda... |
OMIM:614800 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Asthma, Rhinitis, B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Micrognathia, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Rec... |
OMIM:618183 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinusitis |
OMIM:618969 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Apnea, Joint stiffness, Flexion contractur... |
OMIM:609069 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus |
OMIM:150260 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... |
OMIM:600775 |
Mogs-Cdg |
|
Thoracic scoliosis, Wide nose, Hepatosplenomegaly, Hydrocele testis, Inappropriate antidiuretic h... |
ORPHA:79330 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Osteoporosis, Hypothyroidism, Goiter |
ORPHA:254892 |
3Mc Syndrome |
|
Craniosynostosis, Hip dislocation, Limited pronation/supination of forearm, Orofacial cleft, Down... |
ORPHA:293843 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi... |
OMIM:603553 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Micromelia, Craniosynostosis, Postaxial hand polydactyly, Hepa... |
OMIM:200995 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... |
OMIM:616100 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Symblepharon, Carious teeth, Gingivitis, Periodontitis, Oral ... |
OMIM:173650 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy, Genu valgum |
ORPHA:488627 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Bone marrow hypocellularity, Anemia, Radial dysplasia |
OMIM:617244 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... |
OMIM:619705 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Mucolipidosis Type Ii |
|
Hip contracture, Respiratory failure requiring assisted ventilation, Craniosynostosis, Limited wr... |
ORPHA:576 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Cryptorchidism... |
OMIM:227645 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:600376 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Prominent metopic ridge, Sparse scalp hair, Rocker bottom foot, Cranios... |
ORPHA:1272 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Narrow nasal bridge, Premature pubarche, Precocious puberty, Cryptorchidism, Flexion ... |
ORPHA:398069 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Cryptorchidism... |
OMIM:227650 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... |
OMIM:612260 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Small for gestational age, Death in childhood |
OMIM:619847 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Anteverted nares, Broad ischia, Wide nasal bridge, Diaph... |
OMIM:619727 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... |
ORPHA:171 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... |
OMIM:267700 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Thick lower lip vermilion, Pr... |
ORPHA:1465 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Thymoma, Iron deficiency anemia, Type I... |
OMIM:269200 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Broad eyebrow, Sparse scalp hai... |
OMIM:601088 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic necrosis, Premature graying of ... |
OMIM:127550 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Dental crowding, Abnormal dental enamel morphology, Median cleft lip and pa... |
ORPHA:3310 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Joint hypermobility, Limited elbow movement, Cleft upper lip, Crani... |
OMIM:265050 |
Trisomy 13 |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormality of the fontanelles or cranial su... |
ORPHA:3378 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Failure to thrive, Recurrent fractures, Persistence of primary teeth, Micrognathia,... |
ORPHA:2785 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Increased susceptibil... |
OMIM:253290 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Petechiae, Pneumonia, Epistaxis, Cough, Dysp... |
ORPHA:340 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Preaxial hand po... |
ORPHA:96179 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational... |
ORPHA:555874 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Highly arched eyebrow, Multiple prenatal fract... |
OMIM:618644 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Choanal atresia, Joint stiffness, Micrognathia, Split hand, Ab... |
ORPHA:1300 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Acetabular dysplasia, Anemia |
OMIM:618313 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Cardiomegaly,... |
ORPHA:95430 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2834 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Brain abscess, Cyanosis, Increased pulmonary vascular resista... |
ORPHA:97214 |
Denys-Drash Syndrome |
|
Neonatal death, Wide anterior fontanel |
OMIM:194080 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the liver, Respiratory failure, Hepatocellular carc... |
ORPHA:88618 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Erythema, Limitation of joint mobility, Lymphadenopathy, Urticaria, Ar... |
ORPHA:343 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob... |
ORPHA:99106 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Camptod... |
OMIM:265000 |
Galloway-Mowat Syndrome 10 |
|
Arachnodactyly, Congenital hypothyroidism |
OMIM:619609 |
Allan-Herndon-Dudley Syndrome |
|
Pectus excavatum, Cryptorchidism, Flexion contracture, Abnormality of thyroid physiology |
ORPHA:59 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Tachypnea, Rec... |
ORPHA:1329 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Anemia, Stridor, Cough, Failure to thrive, R... |
OMIM:230900 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral... |
OMIM:616723 |
Martin-Probst Syndrome |
|
Pancytopenia, Micrognathia, Cryptorchidism, Dental malocclusion, Wide nasal bridge, Hypoplastic n... |
OMIM:300519 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Recurrent fractures, Splenomegaly, Osteoporosis, Respiratory insufficiency, Anemia,... |
OMIM:222700 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Angiokeratoma, Coxa valga, Cardiomegaly, Sple... |
OMIM:230000 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Osteomyelitis, Pneumonia, Thro... |
ORPHA:781 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Pneumonia, Pure red cell aplasia, Auto... |
OMIM:613179 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Cowden Syndrome |
|
Brachydactyly, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... |
ORPHA:201 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Pneumonia, Absent thumb, Short thumb, Cryp... |
OMIM:603467 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Ectodermal dysplasia, Joint laxity, Hepatomegaly, Syndactyly, Rhizomel... |
OMIM:613610 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Genu varum, Long to... |
OMIM:264090 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Prominent interp... |
OMIM:135900 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Eosinophilia, Supernumerary nipple, Conical tooth, Fine hair... |
OMIM:308300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Hepatosplenomega... |
OMIM:608233 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insuffi... |
ORPHA:159 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, P... |
OMIM:616028 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopath... |
ORPHA:653 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Epicanthus, Thin lower lip vermilion, Deep philtrum, Submucous cleft ha... |
OMIM:619194 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of... |
ORPHA:261323 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal placement of ... |
OMIM:616263 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly... |
OMIM:242700 |
Marden-Walker Syndrome |
|
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Blepharo... |
ORPHA:2461 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, ... |
ORPHA:79240 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality... |
ORPHA:2753 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Neuroocular Syndrome |
|
Highly arched eyebrow, Lagophthalmos, Synophrys, Short uvula, Submucous cleft hard palate, Nasola... |
OMIM:619539 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microretrognathia, Failure to thrive in infancy, Joint hypermobil... |
OMIM:619418 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Joint stiffness, Micrognathia, Splenomegaly, Contracture o... |
OMIM:607015 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o... |
OMIM:127000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Osteomyelitis, Autoimmune thrombocytopenia, Abnorma... |
ORPHA:37042 |
White-Sutton Syndrome |
|
Mandibular prognathia, Joint laxity, Micrognathia, Hypoplastic cervical vertebrae, Cleft palate, ... |
OMIM:616364 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f... |
ORPHA:565 |
Whipple Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Hypothyroidism, Anemia |
ORPHA:3452 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... |
OMIM:618329 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, ... |
ORPHA:93473 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, High, narrow palate, Fine hair, Apl... |
ORPHA:276432 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Depressed nasal bridge, Abnormality of thyroid physiology, Postaxial polydactyly, T... |
OMIM:300968 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... |
OMIM:301043 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short... |
OMIM:600092 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... |
OMIM:618394 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Pneumonia |
OMIM:614069 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Cutis marmorata, Epistaxis, Abnormality of neutrophils, Splenome... |
ORPHA:33226 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Broad hallux phalanx, Joint stiffness, Splenomegaly, Broad thumb |
ORPHA:585 |
Gray Platelet Syndrome |
|
Myelofibrosis, Epistaxis, Abnormal number of alpha granules, Splenomegaly, Bruising susceptibilit... |
OMIM:139090 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Pectus carin... |
OMIM:605822 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Bloom Syndrome |
|
Syndactyly, Agenesis of maxillary lateral incisor, Hand polydactyly, Clinodactyly of the 5th fing... |
OMIM:210900 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdev... |
OMIM:300912 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Micrognathia, Splenomegal... |
OMIM:261515 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism, Paresis of extensor muscles of the big toe, Progressive flexion contractures, Rhe... |
ORPHA:98808 |
Silver-Russell Syndrome |
|
Sandal gap, Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular ske... |
ORPHA:813 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm |
ORPHA:238750 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Hip d... |
ORPHA:453499 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Pectus excavat... |
ORPHA:2789 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Wide nose, Overlapping toe, Anteverted... |
OMIM:213980 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Osteoporosis, Hepatosplenomegaly, Hypothyroidism, Anemia |
OMIM:619487 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in p... |
ORPHA:391487 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Bronchiectasis, T... |
OMIM:300755 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Hypothyroidism, Anemia |
OMIM:619147 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Respiratory insufficiency, Lymphadenopathy, Restrictive ventil... |
ORPHA:549 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive |
OMIM:617388 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Congenital hip dislocation, Small for gestational ag... |
ORPHA:404454 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Sandal gap, Scoliosis |
ORPHA:2715 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Abnormal respiratory system physiology, Mesomelia, Broad thumb, Brachyd... |
ORPHA:171866 |
Caudal Regression Syndrome |
|
Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, A... |
ORPHA:3027 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... |
OMIM:260660 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism |
OMIM:256300 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Upslanted palpebral fissure, Wide mouth, Widely spaced teet... |
OMIM:300967 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Thin upper lip vermilion, Metatarsus adductus, Premature osteoarthritis, La... |
OMIM:611962 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hypertrichosis Cubiti |
|
Joint hyperflexibility, Rhizomelia, Micromelia |
ORPHA:2220 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Diamond-Blackfan Anemia |
|
Epicanthus, Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinoma of the colon,... |
ORPHA:124 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Duplication of thumb phalanx, Highly arched eyebrow, Micrognathia, Joint... |
ORPHA:2995 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Cardiomegaly |
ORPHA:391428 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Abnormal hand morphology, Small hand, Broad finger, Abnormal nostril morphology, Retro... |
OMIM:300845 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, L... |
OMIM:605309 |
Distal 17P13.1 Microdeletion Syndrome |
|
Hypoplasia of the zygomatic bone, Abnormal hand morphology, Retrognathia, Arachnodactyly |
ORPHA:319171 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand ... |
OMIM:227646 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Downturned corners of mouth, Smo... |
OMIM:619321 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition,... |
ORPHA:567 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... |
ORPHA:379 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Pectus carinatum, Congenit... |
OMIM:617527 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Supernumerary nipple, Cryp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Supernumerary nipple, Cryp... |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hypergonadotropic hypogonadism, Depressed nasal bridge, Flexion contracture, Thromboc... |
OMIM:212065 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pec... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pec... |
ORPHA:363958 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Chronic neutropenia, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, ... |
ORPHA:79259 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptod... |
OMIM:249000 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia |
ORPHA:206436 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Aspergillosis |
|
Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Nasal congestion |
ORPHA:1163 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, A... |
ORPHA:1834 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Clinodac... |
ORPHA:1199 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Clinodactyly of the 5th... |
ORPHA:52 |
Tenorio Syndrome |
|
Osteopenia, Mandibular prognathia, Joint laxity, Thick eyebrow, Wide mouth, Macroglossia, Recurre... |
OMIM:616260 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Euthyroid goiter |
OMIM:113650 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cutis marmorata, Portal hypertension, ... |
OMIM:615688 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exoc... |
ORPHA:93111 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas... |
OMIM:615895 |
White-Kernohan Syndrome |
|
Joint laxity, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia,... |
OMIM:619426 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Camptodactyly of finger, Micromelia, Asplenia, Cryptorchidism, Micrognathia, ... |
ORPHA:99776 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Abnormal pattern of resp... |
ORPHA:1454 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Pneumonia, Follicular hyperpl... |
OMIM:619381 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Mandibular prognathia, Thickened ribs, Depressed nasal bridge, Craniosy... |
ORPHA:309282 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Flexion contracture, Lymphaden... |
OMIM:619183 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Depressed nasal ridge, Microretrognathia, Mesoaxial ... |
ORPHA:672 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Limb joint contracture |
OMIM:620327 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia |
OMIM:184400 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, C... |
ORPHA:1772 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Liver abscess, Osteomyelitis, Pneumonia, Productive cough, L... |
ORPHA:31204 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Hip dysplasia, Anemia |
ORPHA:30 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Synostosis of carpal bones, Bilat... |
ORPHA:1507 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Failure to thrive |
ORPHA:280210 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Respiratory insuffic... |
ORPHA:646 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ... |
OMIM:105650 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Respiratory distress, Micromelia, Failure to thrive, Adduct... |
ORPHA:50810 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
Fraser Syndrome 2 |
|
Respiratory failure, Hypoplasia of the thymus, Cutaneous syndactyly |
OMIM:617666 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Arachnodactyly, Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Hypothyroidism, Microcytic anemia |
OMIM:251900 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Reduced bone mineral density, Hypothyroidism, Sh... |
ORPHA:1556 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Abnormal dental enamel morphology, Metatarsus val... |
ORPHA:744 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum,... |
ORPHA:500150 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Exertional dyspnea |
ORPHA:90033 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Hypothyroidism, Hypochromic microcytic anemia, Normochromic microcytic ... |
ORPHA:66634 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Avascular necrosis of th... |
OMIM:222470 |
Zttk Syndrome |
|
Epicanthus, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the maxilla, Submucous cl... |
OMIM:617140 |
Kinsship Syndrome |
|
Osteopenia, Death in infancy, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Poly... |
OMIM:619297 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Dental crowding, Joint hypermobility, Micrognathia, Pectus excavatum, Cleft pal... |
OMIM:130720 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Wide nasal bridge, Genu valgum, Hip dysplasia, Broad ribs, Irreg... |
OMIM:619698 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth |
OMIM:617799 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Single transverse palmar ... |
OMIM:148050 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Micrognathia, Joint stiffness, Cryptorchidis... |
OMIM:618820 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Lymphatic Malformation 6 |
|
Micrognathia, Pectus excavatum, Splenomegaly, Hydrocele testis, Hypothyroidism |
OMIM:616843 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Upslanted palpebral fissure, Widely spa... |
ORPHA:268261 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum... |
ORPHA:59315 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Large fonta... |
ORPHA:116 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Broad hallux, Splenomegaly, Hypoplastic vertebral bodies, Broad thumb |
OMIM:272200 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Cardiomegaly, Flexion contracture, Premature graying of hair, Hepatomegaly, Ly... |
OMIM:256040 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Clinodactyly of the 5th finger, Microdontia, Spina bifida occulta, Join... |
ORPHA:904 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hammertoe, Multinodular goiter, Micrognathia |
OMIM:620189 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:618922 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Cleft soft palate |
OMIM:614557 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemol... |
OMIM:277900 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Calcification of the auricular cartilage, Failure to thrive in infancy, Ost... |
ORPHA:51608 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Urticaria, Splenomegaly, Pancytopenia |
OMIM:614979 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Genu valgum |
ORPHA:1778 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Micrognathia, Re... |
OMIM:251260 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis, Sandal gap, Macrodactyly |
OMIM:612918 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Hypoplasia of the thymus, Neutropen... |
ORPHA:906 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Joint contracture... |
OMIM:263700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Fucosidosis |
|
Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Single naris, Respiratory failure, Pulmonary hypoplasia, Chronic si... |
OMIM:615636 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Hand polydactyly, Rib fusion, Craniosynostosis, Micrognathia |
ORPHA:261197 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Cyanosis, Apnea |
OMIM:619580 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Spl... |
ORPHA:2137 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Postaxial hand po... |
ORPHA:2166 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Death in infancy, Failure to thrive, Petechiae |
OMIM:602473 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Pseudoxanthoma Elasticum |
|
Joint hyperflexibility, Abnormal thorax morphology, Hypothyroidism |
ORPHA:758 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Phace Syndrome |
|
Abnormal sternum morphology, Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi... |
ORPHA:50918 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Epistaxis, Thrombocyt... |
ORPHA:167 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Choanal atresia, Postaxial hand polydactyly, Abnormal... |
ORPHA:3380 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Pancytopenia, Death in infancy, Increased bone mineral density, Recurre... |
ORPHA:355 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Hemivertebrae... |
ORPHA:1112 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout |
ORPHA:412 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism |
OMIM:617713 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... |
OMIM:257220 |
Prune Belly Syndrome |
|
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus |
ORPHA:2970 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Shagreen patch |
OMIM:191100 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Toluene Embryopathy |
|
Hypoplasia of the zygomatic bone, Micrognathia, Tapered finger |
ORPHA:1920 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocyto... |
OMIM:153670 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Large for gestational age, Abnormal thumb morphology,... |
ORPHA:500095 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contractur... |
OMIM:259050 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Pectus carinatum, Flared iliac wing, Sho... |
ORPHA:79255 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Cyanosis, Bilateral cryptorchidism, Osteoporosis, Decreased testicular size |
ORPHA:2326 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Obesity, Bilateral breast hypoplasia, Hip dysplasia, Limb undergrowth... |
ORPHA:319675 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea |
ORPHA:90037 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Lipodystrophy, Abnormal cartilage morphology, Bone cyst, Osteolysis, M... |
ORPHA:2396 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Hepatic stea... |
OMIM:270400 |
Mosaic Variegated Aneuploidy Syndrome |
|
Wide nose, Micrognathia, Depressed nasal ridge, Osteolysis, Acute lymphoblastic leukemia, Clinoda... |
ORPHA:1052 |
Charge Syndrome |
|
Delayed eruption of teeth, Epicanthus, Highly arched eyebrow, Cleft upper lip, Abnormal soft pala... |
ORPHA:138 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar ap... |
OMIM:606170 |
Cog1-Cdg |
|
Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular ... |
ORPHA:263508 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel mor... |
ORPHA:2330 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ... |
ORPHA:550 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia, Hip... |
OMIM:619325 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Micrognathia |
OMIM:601374 |
Gaisböck Syndrome |
|
Plethora, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:90041 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thromboc... |
ORPHA:77293 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Joint stiffness |
ORPHA:2400 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s... |
ORPHA:77261 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutro... |
ORPHA:88 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck |
ORPHA:2912 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Peritonitis, Weight loss, Respiratory failure, Pleural effusion |
ORPHA:679 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in... |
OMIM:610505 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections, Joint stiffness |
OMIM:252920 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Hypoplasia of the zygomatic bone, Camptodactyly of finger, Scoliosis, Micrognathia |
ORPHA:1968 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Hyperkeratosis, Joint swelling... |
ORPHA:29207 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Precocious puberty, Hyperhidrosis, Hypothyroidism |
ORPHA:58 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Camptodactyly of finger, Rocker bottom foot, Elbow ... |
OMIM:208150 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Micrognathia, Short toe, Orofacial cleft, Abnormal lip m... |
ORPHA:171929 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pul... |
ORPHA:71493 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Limitation of joint m... |
ORPHA:2990 |
Secondary Short Bowel Syndrome |
|
Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Multiple joint contractures, Irregula... |
ORPHA:99646 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Failure to thrive, Small for gestational age, Death in childhood |
OMIM:618252 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lym... |
OMIM:306400 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Decreased response to growth hormone stimulation tes... |
ORPHA:293978 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide nas... |
OMIM:616894 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections, Joint stiffness |
OMIM:252900 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Decreased response to growth hormone st... |
ORPHA:293987 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Retrognathia, Joint hypermobility, Thin ribs |
OMIM:300219 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Micrognathia, Cr... |
OMIM:620305 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Weight loss, Lymphadenopathy, Pathologic fracture, Pleural effusion, An... |
ORPHA:29073 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Anteverted nares, Depressed nasal bridg... |
OMIM:252940 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:79430 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Oste... |
OMIM:232220 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... |
OMIM:276700 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal var... |
OMIM:301068 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Poor wound healing, Abno... |
ORPHA:2072 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Cryptorchidis... |
ORPHA:1606 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, Joint hypermobility, Thin ribs |
ORPHA:456328 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... |
ORPHA:699 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Wide nasal bridge, Hypoplasia of the thymus, Thromb... |
ORPHA:84064 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lym... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lym... |
OMIM:233710 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Highly arched ey... |
ORPHA:444077 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Failure to thrive, Abnormal dental enamel morphology, Micrognath... |
ORPHA:2556 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lym... |
OMIM:233690 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Clinodactyly of th... |
ORPHA:2135 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Osteoporosis, Abnormal femur morphology, Abnormal finger m... |
ORPHA:909 |
Down Syndrome |
|
Joint laxity, Sandal gap, Hypoplastic iliac wing, Shallow acetabular fossae, Myeloproliferative d... |
OMIM:190685 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathia, Limitation of joint mobility,... |
ORPHA:254519 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Failure to thrive, Petechiae |
ORPHA:51188 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Tachypnea, Polycystic ovaries, Cough, Failure to thrive |
ORPHA:137675 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Abnormal dental enamel morphology,... |
ORPHA:2273 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Decreased response to growth hormone stimulation test, Craniosynostosi... |
ORPHA:506358 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum,... |
ORPHA:3455 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Bilateral Polymicrogyria |
|
Arthrogryposis multiplex congenita, Micrognathia, Central hypothyroidism |
ORPHA:268940 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Hyperthyroidism, Micrognathia, Pectus excavatum, Increased circulating pro... |
OMIM:617675 |
Hereditary Angioedema Type 1 |
|
Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema |
ORPHA:100050 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Large fontanelles, Abnormal rib morphology, Aplasia... |
ORPHA:887 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia |
ORPHA:1908 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Splenomegaly |
OMIM:617913 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Avascular necrosis of the capital femoral epiphysis, Normocytic anemia, Normochromic anemia, Comp... |
ORPHA:247691 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Hypoplasia of the zygoma... |
OMIM:613603 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough... |
OMIM:233450 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palmoplantar hyperk... |
ORPHA:2907 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Respiratory insufficiency, ... |
ORPHA:221 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Adrenal hypoplasia, Absent nasal... |
OMIM:157170 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe synda... |
ORPHA:373 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Abnormal sacroiliac joint morphology, Erythema... |
ORPHA:32960 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Generalized joint laxity, Increased circulating ... |
ORPHA:502423 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Joint laxity, Ectopic posterior pituitary, Congenital hip dislocation, Small for gestat... |
ORPHA:508488 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Micrognathia, Thrombocytop... |
OMIM:188400 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe |
OMIM:617478 |
Hydatidiform Mole |
|
Hyperthyroidism, Anemia |
ORPHA:99927 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, Abnormality ... |
ORPHA:261112 |
Viss Syndrome |
|
Microretrognathia, Ptosis, Chronic gastritis, Duodenitis, Cleft soft palate, Submucous cleft soft... |
OMIM:619472 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Depressed nasal bridge, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Bifid nose, ... |
OMIM:301066 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Polysplenia |
OMIM:616749 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections, Joint stiffness |
OMIM:252930 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Rib fusion |
OMIM:277300 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Erythema, Hyperostosis |
ORPHA:53715 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Bone cyst, F... |
ORPHA:3042 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Rectal abscess, B lymphocytopenia, Recurrent sinusitis, Neut... |
OMIM:601495 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Depres... |
OMIM:225400 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadenopathy, Enlargement of parotid gland,... |
ORPHA:79078 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Truncus Arteriosus |
|
Cyanosis, Cardiomegaly, Tachypnea, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones o... |
ORPHA:3384 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hyperthyroidism, Toe syndactyly, Camptodactyly of finger, Crypt... |
ORPHA:2008 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Talipes equinovarus, Neonatal death, Death in childhood, ... |
OMIM:619124 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Thrombocytopenia, Splenomegaly, Arth... |
OMIM:615846 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Narrow nasal bridge, Sandal gap, Anteverted nares, Sin... |
OMIM:601358 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Adrenal hypoplasia, Mi... |
OMIM:607932 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Hepatosplen... |
ORPHA:51 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bon... |
OMIM:269700 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Fryns Syndrome |
|
Microretrognathia, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, Single tran... |
OMIM:229850 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Bulbous nose, Rib fusion, Clinodactyly of the 5th finger, Retrognathia |
ORPHA:544488 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Micrognath... |
ORPHA:280 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Micrognathia |
OMIM:614857 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanelles, Long philt... |
ORPHA:2211 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Hypopla... |
OMIM:192350 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Mandibular prognathia, Hypothyroidism |
ORPHA:457212 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Abnormality of the humeroulnar joint |
ORPHA:2234 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Cough, Emphysema, Hemolytic anemia, Hepatomegaly, Portal hype... |
ORPHA:797 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Dental crowding, Abnormal dental m... |
ORPHA:261537 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Patent ductus arteriosus, Flexion contracture, Orofacial cleft, Polyd... |
ORPHA:17 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Tibial ... |
OMIM:259770 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Wide nose, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation... |
ORPHA:217085 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Depressed nasal ridge, Hip dislocation, Absent nasal septal cartilage |
ORPHA:2003 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint dislocation, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Pec... |
OMIM:601776 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Acrocyanosis, Recurrent fractures, Osteolysis |
ORPHA:1764 |
Blau Syndrome |
|
Camptodactyly of finger, Splenomegaly, Dyspnea, Erythema, Limitation of joint mobility, Synovitis... |
ORPHA:90340 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal... |
ORPHA:96176 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Wide nose, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation... |
ORPHA:217093 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi... |
ORPHA:50 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Severe photosensitivity, Er... |
ORPHA:95159 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Pleural... |
OMIM:249100 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Dental crowding, Abnormal dental m... |
ORPHA:2152 |
Schisis Association |
|
Small for gestational age, Micromelia |
ORPHA:63862 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Reduced bone mineral density |
ORPHA:47159 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bon... |
OMIM:608594 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Cr... |
OMIM:256520 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Abnormality of the endocrine system, Precocious puberty, Cryptorchidism... |
ORPHA:438213 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Congenital hepatic fibrosis, Abnormal pelvis... |
ORPHA:93271 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Bifid uvula, Abnormal ... |
ORPHA:261552 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Single tran... |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Choanal atresia,... |
OMIM:107480 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Splenomegaly, Metaphyseal widening, Rickets, Genu valgum, Hypohidrosis, Primar... |
OMIM:219800 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, 2-... |
OMIM:618653 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Han... |
OMIM:214800 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip |
OMIM:142946 |
Marshall Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum |
ORPHA:560 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Anteverted nares, Tarsal synostosis, Bulbous nose, Rib fusion, Wide nasal bridge, H... |
OMIM:157800 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Decreased resp... |
ORPHA:273 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Respiratory failure, Pheochromo... |
ORPHA:805 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Proboscis, Abnormality... |
ORPHA:93924 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypothyroidism |
ORPHA:93256 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Osteoarthrit... |
ORPHA:287 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Hepatic fibrosis, Neonatal death, Intrahepatic bile du... |
OMIM:619534 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Hallux valgus, Diabetes mellitus, Anteverted nares, Down-sloping should... |
OMIM:194050 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism |
ORPHA:480864 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the dentition, Elbow dislocation, Osteoarthritis, Abnormality o... |
ORPHA:285 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Tapered finger, Pectus excavatum, Congenital hypothyroidism, Limited elbow extension, Joint hyper... |
OMIM:616973 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism,... |
OMIM:613457 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:613254 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Failure to thrive, Cutis marmorata, Recurrent fractures, Generaliz... |
ORPHA:416 |
Leprechaunism |
|
Enlarged ovaries, Wide nose, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increa... |
ORPHA:508 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pleural effusion, Ascites, Enlarged kidney |
OMIM:261740 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis... |
OMIM:304050 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Hypothyroidism |
ORPHA:411634 |
Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly, Short nose |
ORPHA:1394 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Wormian bones, Delayed cranial suture... |
ORPHA:90348 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiecta... |
ORPHA:980 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Clubbing, Telangiectasia, Hepatic arteriovenous malformation, Anemia |
OMIM:175050 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metacarpal morpholo... |
ORPHA:228123 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Cryptorchidism, Preaxial hand polydactyly... |
ORPHA:857 |
Postinfectious Vasculitis |
|
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Weight loss, Arthritis, ... |
ORPHA:48435 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Congenital hip dislocation, Premature thelarche, Micrognathia, Autoimmune throm... |
OMIM:147920 |
Holoprosencephaly |
|
Failure to thrive in infancy, Short neck, Abnormal form of the vertebral bodies, Hand polydactyly... |
ORPHA:2162 |
Double Outlet Left Ventricle |
|
Cyanosis, Cardiomegaly, Cryptorchidism, Tachypnea, Failure to thrive |
ORPHA:3427 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Vexas Syndrome |
|
Nasal chondritis, Arthritis, Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
X-Linked Mandibulofacial Dysostosis |
|
Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:1131 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Diabetes mellitus, Underdeveloped nasal alae, Cryptorchidism, Splenomegaly, Hypopla... |
OMIM:243800 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Fetal ascites, Neonatal asphyxia, Dyspnea, Wheezing, Upper airway... |
ORPHA:141127 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Inguinal hernia, Ankle flexion contracture, Abnormality of the den... |
ORPHA:821 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Depressed nasal bridge, C... |
ORPHA:709 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Avascular necrosis of the cap... |
ORPHA:3107 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Small for gestational age, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zy... |
ORPHA:556955 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency, Congenital hypot... |
ORPHA:2255 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypoplasia of the zygomatic bone, Craniosynostosis |
ORPHA:1555 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Depressed nasal ridge, Joint stiffness |
OMIM:230500 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,... |
OMIM:118450 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Short phalanx of finger |
OMIM:208060 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Thin ribs |
ORPHA:169189 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormality of thyroid physiology |
ORPHA:411629 |
C Syndrome |
|
Death in infancy, Toe syndactyly, Failure to thrive in infancy, Micromelia, Micrognathia, Cryptor... |
ORPHA:1308 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Failure to thrive, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Medulloblastoma |
|
Delayed cranial suture closure |
ORPHA:616 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage |
ORPHA:3348 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Thick eyebrow, Tapered finger |
OMIM:618367 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea |
ORPHA:2299 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Hypoplasia of the zygomatic bone, ... |
OMIM:200110 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Small for gestational age, Hitchhiker thumb, Hypoplasia of the zygomatic bone |
OMIM:618500 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of finger |
ORPHA:920 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis,... |
ORPHA:99125 |
Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Rib fusion, Supernumerary ribs, Missing ribs |
OMIM:206900 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion |
OMIM:614688 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Failure to thrive, Cyanosis |
ORPHA:216694 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |