| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ... |
ORPHA:93324 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, M... |
OMIM:210720 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas... |
ORPHA:2616 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... |
OMIM:602471 |
| Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
| 17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Relative macrocephaly, Scapular winging, Severe short stature, Small f... |
OMIM:612921 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinat... |
OMIM:223800 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Cryptorchidism, F... |
OMIM:612447 |
| Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Hypoplasia of the... |
ORPHA:950 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia |
OMIM:226700 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Severe short stature, Carious t... |
OMIM:203550 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-... |
ORPHA:166272 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Short stature, Abnormality of the dentition, Micr... |
ORPHA:3268 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Pes planus, Hypospadias, Selective tooth agenesis, Short stature, Micrognathia,... |
OMIM:613823 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| 48,Xyyy Syndrome |
|
Pes planus, Acne, Abnormal foot morphology, Thick lower lip vermilion, Irregularly spaced teeth, ... |
ORPHA:99329 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Carious teeth, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
| Seckel Syndrome 4 |
|
11 pairs of ribs, Severe short stature, Microcephaly, Steep acetabular roof, Decreased body weigh... |
OMIM:613676 |
| Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Single t... |
OMIM:210600 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Microcephaly, Abnormal rib morphology, Downturned corners of mouth, Abnorma... |
ORPHA:2643 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyl... |
OMIM:164745 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Micrognathia, ... |
OMIM:613849 |
| Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat acetabular ... |
OMIM:269250 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Bowing of the legs, Pectus excavatum, Pectus carina... |
OMIM:301014 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... |
OMIM:228520 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Dentinogenesis imperfecta, Pectus carinatum, Decreased calvarial o... |
OMIM:259440 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Broad ribs... |
OMIM:613848 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
| Filippi Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Single transverse palmar crease, Microcephaly, 2-... |
OMIM:272440 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Upper limb undergrowth, Short foot, Toe clinodactyly, Abnormal cortical bone morph... |
ORPHA:166277 |
| Three M Syndrome 1 |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Spina bifida occulta, Scapular winging, Hy... |
OMIM:273750 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Micrognathia, Orofacial cleft, Pec... |
ORPHA:958 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Microcephaly, Thick lower lip vermilion, Osteoporosis, Microdontia of prim... |
OMIM:234250 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
| Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Wide anterior fontanel, Tibia... |
OMIM:259420 |
| Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Orofacial cleft, Coxa vara, Aplasia/Hypoplasia of the tibia, Sho... |
ORPHA:1988 |
| Ellis-Van Creveld Syndrome |
|
Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, Neonata... |
OMIM:225500 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Pectus carinatum... |
OMIM:613330 |
| Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... |
ORPHA:3416 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ... |
OMIM:227270 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otitis... |
ORPHA:10 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... |
OMIM:224690 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... |
OMIM:607326 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M... |
OMIM:614091 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... |
OMIM:277440 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... |
OMIM:264700 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
| Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... |
ORPHA:93328 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Reduced bone mineral density, Slender long bone, Decreas... |
OMIM:619795 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Obesity, Osteoporos... |
OMIM:612463 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Beaded ribs, Cardiomegaly, Flexion contracture, Micropenis, Decreased s... |
OMIM:616897 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Short stature, Pectus excavatum, Postnatal growth retardation, Thi... |
OMIM:616294 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Thi... |
ORPHA:73230 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Wide distal fem... |
OMIM:614856 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... |
OMIM:108720 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, High pa... |
OMIM:300232 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decrea... |
OMIM:618265 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... |
ORPHA:163966 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Obe... |
OMIM:300602 |
| Prieto Syndrome |
|
11 pairs of ribs, Inguinal hernia, Coxa valga, Abnormality of the dentition, Cryptorchidism, Oste... |
OMIM:309610 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
| Pallister-Hall-Like Syndrome |
|
Median cleft lip, Toe syndactyly, Short stature, Micromelia, Micrognathia, Microcephaly, Postaxia... |
OMIM:241800 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Postnatal ... |
OMIM:619135 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79405 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat... |
OMIM:269860 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Hypospadias, Micr... |
ORPHA:96097 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Obesity,... |
OMIM:103580 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retrov... |
OMIM:610915 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the... |
OMIM:309350 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
| Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal... |
OMIM:114290 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ... |
ORPHA:289157 |
| Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... |
OMIM:260660 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Pes planus, Hyperextensibility of the finger joints, Short stature, Abnormal pelvic g... |
OMIM:610967 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Single transverse palmar crease, Microcephaly, Muscular ventricular septal defect,... |
OMIM:620062 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Relative macrocephaly, Ventricular septal defect, Thoracic hypoplasia, P... |
OMIM:617895 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... |
ORPHA:1856 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Hypospadias, Microcephaly, Postnatal growth retardation, Pierr... |
OMIM:619184 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... |
OMIM:171480 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue |
OMIM:226670 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Small for gestational age, Micromelia, Cardiomegaly, Wide distal femoral m... |
OMIM:613320 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Cryptorchidism, High palate, Camptodactyly, N... |
OMIM:618393 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Sandal gap, Small for gestational age, Rhiz... |
OMIM:607143 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, Radial bowin... |
OMIM:151210 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... |
OMIM:600920 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Chroni... |
ORPHA:96263 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
| Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Hypoplastic ilia, Umbilical hernia, Stillbirth, Narrow chest, Short ... |
OMIM:600972 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, High palate, Micro... |
ORPHA:456328 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Abnormally ossified... |
ORPHA:1512 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Short tibia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb underg... |
OMIM:118651 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Osteoporosis, ... |
OMIM:300604 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Short stature, Microcephaly, Pectus excavatum, Bilateral c... |
OMIM:618874 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ... |
ORPHA:3144 |
| Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Elevated circulati... |
ORPHA:95699 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Elevated circulating thyroid-stimulat... |
OMIM:612462 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short stature, Micrognathia, Carious teeth, Microcephaly, Talon cusp, D... |
OMIM:613684 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ... |
OMIM:271700 |
| Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Short stature, Cardiomegaly, Absent frontal sin... |
OMIM:253250 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Short stature, Micr... |
OMIM:616716 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda... |
OMIM:618761 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79406 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Narrow chest, Hypoplasia of the ulna,... |
OMIM:200980 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Atrial septal defect, Atrio... |
OMIM:600373 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Meier-Gorlin Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch... |
OMIM:613803 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... |
ORPHA:2831 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Chroni... |
ORPHA:96264 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Atrial septal defect, Rhizomelia, Talipes, Micromelia, Abnormality of the ... |
ORPHA:1842 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Obes... |
OMIM:615630 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Broad metacarpals, Hypoplastic c... |
ORPHA:56304 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Elevated circulating thy... |
OMIM:601812 |
| Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr... |
OMIM:277150 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anter... |
ORPHA:2021 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costoch... |
OMIM:187600 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:357175 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Microcephaly, Postaxial hand polyd... |
ORPHA:2491 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Downturned corners of mouth, Ever... |
OMIM:615162 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia, Micropenis... |
OMIM:620076 |
| Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Decreased response to growth hormone stim... |
ORPHA:763 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Short stature... |
OMIM:201170 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic... |
ORPHA:1865 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Patchy variation in bone minera... |
OMIM:215140 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Single transverse... |
ORPHA:96334 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Osteoporosis, Diaphyseal dysplasia, G... |
OMIM:614727 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Failure to thrive, Rhizomelia, Micrognathia, Microcep... |
OMIM:222765 |
| Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Micrognathia, Hypoplasia... |
OMIM:608149 |
| Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no... |
OMIM:617925 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation, Obesity, Thin... |
OMIM:618395 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,... |
OMIM:211350 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... |
ORPHA:2909 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial b... |
OMIM:601559 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Short femur, Short stature, Hypoplastic ilia, H... |
ORPHA:93333 |
| Cohen Syndrome |
|
Thoracic scoliosis, Single transverse palmar crease, Decreased response to growth hormone stimula... |
OMIM:216550 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, C... |
OMIM:234100 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Absent ossificatio... |
OMIM:166210 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Clitoral hypoplasia, Short palm, Micro... |
OMIM:268310 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Accessory oral frenulum, Short thorax, Flexion contracture, Osteolysis... |
ORPHA:88630 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
| Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal pelvic g... |
ORPHA:1803 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Osteopenia, Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Pectus ex... |
ORPHA:2463 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79411 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Abnormality of the dentition |
OMIM:615269 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Micrognathia, Flexion contracture, Cleft palate, Thin ribs, Hypoplastic heart, S... |
OMIM:312150 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Abnormality of the dentition, Clinodactyly, Oligodontia, Th... |
ORPHA:557003 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se... |
ORPHA:289 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Microcephaly, Clinodactyly, Pierre-Robin sequen... |
OMIM:619980 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... |
OMIM:224400 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Obesity, Cone-shaped epip... |
OMIM:619269 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Thin bony cortex, Abnormality of the dentition, Micrognathia, Femoral b... |
OMIM:617952 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing... |
OMIM:117650 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Short stature, Cleft palate, High palate, Polydactyly, Short tibia,... |
OMIM:300484 |
| Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Abnormality of the dentition, Craniosynostosis, Decreased calvari... |
OMIM:241500 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle... |
ORPHA:666 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cleft upper... |
OMIM:263750 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Mic... |
OMIM:251230 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Acne, Obesity, Cleft palate, Primary amenorrhea, Shield chest, Hypoplasia of the u... |
ORPHA:247768 |
| Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Mic... |
OMIM:602361 |
| Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metaca... |
ORPHA:3404 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Macrocephaly, Diaphyseal thick... |
ORPHA:1513 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Pes planus, Exaggerated cupid's bow, Hypospadias, Tapered finger, Crypt... |
OMIM:619293 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Aplasia/... |
ORPHA:3320 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Bowing of the legs, Ulnar bowing, Trident ... |
OMIM:100800 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... |
OMIM:619598 |
| Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Large for gestational age, Abnormality of the thyroid g... |
ORPHA:2563 |
| Cranioectodermal Dysplasia 4 |
|
Short stature, Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumonia, Hip dysplasia, T... |
OMIM:614378 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Sho... |
ORPHA:582 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Relative macrocephaly, Short statur... |
OMIM:239000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
| Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... |
ORPHA:1193 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertro... |
OMIM:252500 |
| W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Acne, Metatarsus adductus, Elbow dislocation, ... |
ORPHA:2804 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... |
ORPHA:93388 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Orofacial cleft, Macroglossia |
ORPHA:79107 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Micrognathia, Flexion contracture, Cleft palate, Thin ribs, Hypoplastic heart, Short finger, Intr... |
OMIM:253290 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Increased head ... |
ORPHA:94068 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Micrognathia, Sprengel anomaly, Micropenis, Bifid uvula, Broad hallux, Hypogonadotropic hypogonad... |
ORPHA:293967 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Microcephaly,... |
ORPHA:3130 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... |
OMIM:249600 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia, Shagreen patch |
ORPHA:1816 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Hypoplasia o... |
OMIM:601076 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnorm... |
ORPHA:3138 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity... |
OMIM:250420 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, High... |
OMIM:143095 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... |
ORPHA:50945 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Tubulointerstitial n... |
OMIM:218330 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Severe short stature, Microcephaly, Decreased body weight, In... |
OMIM:618724 |
| Qazi-Markouizos Syndrome |
|
Tapered finger, Pectus excavatum, High, narrow palate, Cryptorchidism, Hypoplasia of teeth, Delay... |
ORPHA:3010 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Bell-shaped thorax, Th... |
OMIM:602557 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Cleft upper lip, Cleft palate |
OMIM:607371 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Micropenis, Sho... |
OMIM:134780 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence... |
ORPHA:432 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, ... |
OMIM:617866 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Long... |
OMIM:611174 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
| Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Craniosynostosis, Cryptorchidism, Pectus carinatum, Micropenis, P... |
ORPHA:3134 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Elevated circul... |
ORPHA:439822 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Dental crowding, Sandal gap, Short statur... |
OMIM:617877 |
| Cerebellofaciodental Syndrome |
|
Pes planus, Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered fi... |
OMIM:616202 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... |
OMIM:604416 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Single transverse palmar crease, Microcephaly, Narrow mouth, Cryptorchidism, Cleft... |
OMIM:615502 |
| Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... |
OMIM:277590 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Accessory oral frenulum, Micrognathia, Pectus excavatum, Hamartoma... |
OMIM:258860 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, R... |
ORPHA:93267 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... |
OMIM:252600 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
| Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clino... |
OMIM:616145 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Missing ribs, Microcephaly, Short thorax, Abnormal rib morphology, Spina bi... |
ORPHA:1797 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Microcephaly, Flexion contracture, Thin ribs, Narrow mouth, Mild short stature, De... |
OMIM:614833 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Micrognathia, Cryptorchi... |
ORPHA:52 |
| Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Tetrasomy 9P |
|
Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... |
ORPHA:3310 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... |
OMIM:144750 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Pancreatic fibrosis,... |
OMIM:615503 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Proportionate short stature, Micrognathia, Abnormality of the dentition, High, narro... |
ORPHA:2108 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Postnatal growth retardation, Cupped ribs, Metaphyseal widening, De... |
OMIM:608940 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Short femur, Hyperparathyroidism, Metaphyseal spurs, Undulate ribs, ... |
OMIM:618188 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Atrioventricular canal defect, Finge... |
ORPHA:2751 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micromelia, Symphalangis... |
ORPHA:628 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Hypothyroidism, Long phil... |
ORPHA:391408 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Pectus carinatum, Knee flexion contracture, Abnorma... |
OMIM:271665 |
| Brittle Cornea Syndrome 1 |
|
Congenital hip dislocation, Mitral valve prolapse, Atypical scarring of skin, Macrocephaly, Palmo... |
OMIM:229200 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Hypoparathyroidism, ... |
OMIM:156400 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Large for ges... |
OMIM:615398 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast... |
OMIM:263650 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Ob... |
ORPHA:2180 |
| Orofaciodigital Syndrome Ix |
|
Median cleft lip, Toe syndactyly, Short stature, Accessory oral frenulum, Abnormality of the dent... |
OMIM:258865 |
| Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, Decreased response to gro... |
ORPHA:2980 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Downturned corners of mou... |
ORPHA:1299 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Plantar pits, Cardiac fibroma, Abnormal sternum morphology, O... |
OMIM:109400 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Abnormal number of incisors, Coxa valga, Cryptorchidism, Osteoporosis, Finger cl... |
ORPHA:2958 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm... |
ORPHA:276422 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Unilateral brachydactyly, Short ri... |
OMIM:173800 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,... |
OMIM:618961 |
| Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Flexion contractur... |
OMIM:620369 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Cr... |
ORPHA:1703 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, Clinodactyly ... |
OMIM:620073 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical scleros... |
OMIM:122860 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars... |
ORPHA:79409 |
| Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Single transverse palmar crease, Short stature, Microcephaly, Carious teeth, Cryptor... |
OMIM:101805 |
| Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... |
ORPHA:246 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Sho... |
OMIM:235510 |
| Grant Syndrome |
|
Bowing of the long bones, Short stature, Micrognathia, Open bite, Abnormal cortical bone morpholo... |
ORPHA:2097 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Noncompaction cardiomyopathy, Short s... |
ORPHA:508542 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorc... |
OMIM:618067 |
| Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Short stature,... |
OMIM:269300 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... |
ORPHA:397715 |
| Scarf Syndrome |
|
Barrel-shaped chest, Bifid scrotum, Inguinal hernia, Cryptorchidism, Coronal craniosynostosis, Pe... |
OMIM:312830 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Relative macrocephaly, Micrognathia, Precocious puberty, Postnatal growth retardation, Acromicria... |
ORPHA:254525 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Cryptorchidism, Flexion contr... |
ORPHA:90322 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Shox-Related Short Stature |
|
Short stature, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing,... |
ORPHA:314795 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the r... |
ORPHA:2319 |
| Fryns Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar cr... |
OMIM:229850 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Macrocephaly,... |
OMIM:157980 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Short lingual frenulum, Bowed humerus, Hypospadias, Flexion contra... |
OMIM:619479 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h... |
OMIM:259775 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral... |
OMIM:610682 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... |
ORPHA:166016 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Diabetes mellitus, Short stature, Camptodactyly of finger, Abnormal dental enamel morphology, Abn... |
ORPHA:3220 |
| Cole-Carpenter Syndrome 1 |
|
Microdontia, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
| Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Eczema, Micrognathia, Microceph... |
OMIM:617052 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ... |
OMIM:257850 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... |
OMIM:129400 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... |
OMIM:619127 |
| Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Bicuspid aortic valve, Short stature, Absent thum... |
OMIM:614900 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Bowing of the long bones, Shor... |
ORPHA:2484 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Hi... |
ORPHA:536467 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Pectus excavatum, Carious teeth, Radioulnar synostosis, Macrocephal... |
ORPHA:3270 |
| Renpenning Syndrome |
|
Mandibular prognathia, Severe short stature, Macrodontia, Hypospadias, Cachexia, Microcephaly, Pe... |
ORPHA:3242 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis... |
ORPHA:93329 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu... |
OMIM:277170 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, ... |
ORPHA:3082 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Single transverse palmar crease, Delayed eruption of pr... |
ORPHA:2409 |
| Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi... |
ORPHA:97360 |
| 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 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Supernumerary to... |
OMIM:617088 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
| Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short philtrum, Clinodactyly of ... |
ORPHA:819 |
| Achondrogenesis Type 1B |
|
Severe short stature, Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification,... |
ORPHA:93298 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Microcephaly, Downtu... |
ORPHA:2107 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Hypoalbuminem... |
OMIM:209950 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu... |
OMIM:602418 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari... |
OMIM:253000 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular... |
ORPHA:1782 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Metatars... |
ORPHA:2249 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Short stature, Abnormal dental enamel m... |
ORPHA:1798 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Failure to thrive in infancy, Coxa v... |
ORPHA:356961 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc... |
OMIM:609052 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Abnormal foot morphology, Macrocephaly, Taurodontia, High palate, Widely spaced ... |
OMIM:618205 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ... |
OMIM:208150 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Hypothyroidism, Genu varum... |
ORPHA:221008 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... |
ORPHA:1352 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypopl... |
ORPHA:83617 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Ventricular septal defect, Postaxial polydactyly, Microcephaly, Growth delay, ... |
OMIM:614576 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hy... |
OMIM:264090 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis |
OMIM:618155 |
| Hypophosphatasia, Childhood |
|
Short stature, Premature loss of primary teeth, Bowing of the legs, Carious teeth, Craniosynostos... |
OMIM:241510 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... |
OMIM:263520 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler... |
OMIM:607634 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Short stature, Protrusio acetabuli, Coxa vara, Dentinogenesis imperfecta |
OMIM:610968 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abno... |
ORPHA:2092 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
| Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Short stature, Dentinogenesis imperfecta, Hip dislocation, Osteoporosis, Reduced b... |
OMIM:616507 |
| Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Increased fibular diamete... |
OMIM:258315 |
| Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat... |
OMIM:220210 |
| Trisomy 4P |
|
Smooth philtrum, Hypospadias, Camptodactyly of finger, Short stature, Abnormality of the dentitio... |
ORPHA:1738 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High ... |
OMIM:266920 |
| Autosomal Dominant Centronuclear Myopathy |
|
Macrocephaly at birth, Proximal muscle weakness in upper limbs, Large for gestational age, Crypto... |
ORPHA:169189 |
| Seckel Syndrome 7 |
|
Severe short stature, Microcephaly, Abnormal carpal morphology, Madelung deformity, Primary ameno... |
OMIM:614851 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Sandal gap, Ventricular septal defect, Microcephaly, Carious teeth, Ov... |
OMIM:619229 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Disproportionate short-limb short stature, Short ribs |
OMIM:273740 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Atrial ... |
OMIM:250220 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Patchy... |
ORPHA:2323 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Premature ovarian insuffici... |
ORPHA:3464 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... |
OMIM:615866 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Conical tooth, Thrombocytopenia, Neutropenia, To... |
OMIM:617475 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
| Ohdo Syndrome |
|
Small scrotum, Short stature, Micrognathia, Abnormal foot morphology, Cryptorchidism, Hypoplasia ... |
OMIM:249620 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
| Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Inguinal hernia, Severe short stature, Failure to thrive in infancy... |
ORPHA:2645 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short stature, Short metatarsal, Amenorrhea, Osteolytic defects of ... |
OMIM:600705 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, Absent or minimall... |
ORPHA:66637 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o... |
ORPHA:84 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Scapular winging, Short metacarpal, ... |
OMIM:272460 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... |
ORPHA:79410 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... |
OMIM:617780 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Short stature, Abnormal morphology of ulna, Obesity, Decreased fertility, Mitral valve prolapse, ... |
ORPHA:2233 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill... |
OMIM:608154 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o... |
OMIM:161200 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, H... |
OMIM:269150 |
| Metatropic Dysplasia |
|
Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Abno... |
ORPHA:2635 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Abnormal thorax morphology, Flexion contracture, Thin r... |
ORPHA:171430 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Single transverse palmar crease, Short stat... |
ORPHA:73272 |
| 3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno... |
ORPHA:7 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... |
ORPHA:1488 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Short stature, Microce... |
ORPHA:243 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Pectus carinatum, Downturned corners of mouth, High palate, Narrow chest, ... |
ORPHA:1327 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Severe short stature, Talipes, Coxa valga, Metatarsus adductus, Avascular... |
ORPHA:2557 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Mitral valve prolapse, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Den... |
OMIM:166200 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Short metatarsal, Abnormal rib morpholo... |
ORPHA:93351 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Uveitis, High palate, Joint contracture of the 5th finger, Atrial septa... |
OMIM:164200 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Postaxial hand pol... |
ORPHA:2519 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip di... |
OMIM:605274 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short meta... |
OMIM:612350 |
| Familial Expansile Osteolysis |
|
Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cortex, Fragile teeth |
OMIM:174810 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
| Celiac Disease, Susceptibility To, 1 |
|
Short stature, Eczema, Postnatal growth retardation, Osteoporosis, Thyroiditis, Rickets, Weight l... |
OMIM:212750 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Severe short stature, Foot joint contracture, Ventricular septal defect, Single ... |
ORPHA:444072 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Bif... |
OMIM:218600 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac... |
OMIM:169550 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... |
ORPHA:2050 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta |
OMIM:166220 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger... |
ORPHA:2710 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Macrocephaly,... |
ORPHA:1506 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chr... |
OMIM:240300 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circulating thyroid-stimulating ... |
OMIM:256040 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Pectus carinatum, Narro... |
ORPHA:2462 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Pes planus, Slender build, Genu recurvatum, Short stature, Cryptorchidism,... |
ORPHA:364028 |
| Thoracopelvic Dysostosis |
|
Short stature, Short ribs |
OMIM:187770 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
| Achondrogenesis Type 1A |
|
Short palm, Multiple rib fractures, Severe short stature, Femoral hernia, Micromelia, Micrognathi... |
ORPHA:93299 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal ... |
OMIM:271640 |
| Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Short stature, Craniosynostosis, Abnormal... |
ORPHA:436 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Micrognathia, Abnormality o... |
ORPHA:633 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... |
ORPHA:249 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology |
ORPHA:3236 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing of the legs, Enlargement o... |
OMIM:600081 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... |
OMIM:311200 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypospadias, Micromelia, Hypoplasia of the radius, Nonopposable triphalang... |
ORPHA:2252 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Diastema, Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb |
OMIM:179250 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:601357 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C... |
ORPHA:2769 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P... |
OMIM:180849 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin... |
ORPHA:2658 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S... |
ORPHA:221016 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Short stature, Abnormality of the dentit... |
ORPHA:1837 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone... |
OMIM:190350 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C... |
OMIM:619797 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Cleft soft palate, Rocker bottom foot... |
OMIM:606851 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
| Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Widely space... |
OMIM:300882 |
| Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... |
ORPHA:353298 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... |
ORPHA:1354 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Abnormal thorax morphology, Flared metaphysis, Dela... |
OMIM:218400 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... |
OMIM:113000 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Flexion contracture, Knee flexion contracture, Cryptorchidism, Osteoporosis, Deep l... |
OMIM:214150 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
| Ck Syndrome |
|
Dental crowding, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bon... |
OMIM:300831 |
| Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Short stature, Single transverse palmar crea... |
OMIM:614701 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, High, narrow palate... |
ORPHA:33364 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Microcephaly, Cleft pala... |
OMIM:618356 |
| Anauxetic Dysplasia 2 |
|
Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho... |
OMIM:617396 |
| Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Failure to thrive in infancy, Abnor... |
ORPHA:3071 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Severe short stature, Cachexia, Microcephaly, Absence of subcuta... |
OMIM:610965 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... |
OMIM:226600 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, S... |
OMIM:602080 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Osteopenia, Short stature, Cario... |
OMIM:607812 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Obesity, Narrow palate, Hypoplasia of teeth, Wide mou... |
OMIM:620250 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te... |
OMIM:620099 |
| Cdags Syndrome |
|
Hypospadias, Sagittal craniosynostosis, Cleft palate, Rectovaginal fistula, Short ribs, Short cla... |
OMIM:603116 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint... |
OMIM:164900 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Inguinal hernia, Brachydactyly, Sandal gap, Short stature, Microcephal... |
OMIM:614607 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, P... |
OMIM:245600 |
| Occipital Horn Syndrome |
|
Short humerus, Pes planus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Hiatus herni... |
OMIM:304150 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Atrial septal defect, Micrognathia, Microcephaly, Precocious puberty... |
OMIM:619356 |
| Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Atrial septal d... |
ORPHA:1662 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Recur... |
OMIM:602271 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Small for gestational age, Short stature, Abnormality of thyroid ... |
ORPHA:1830 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:216400 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Short stature, Cortical subperiosteal ... |
ORPHA:94089 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Small scrotum, Abnormal palmar dermatoglyphics, Microcephaly, Postnatal gro... |
ORPHA:2728 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Braddock Syndrome |
|
Short stature, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Missing ribs, Intrauter... |
ORPHA:52047 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Acne, Micrognathia, Abnormalit... |
ORPHA:3098 |
| Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po... |
OMIM:617927 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Short stat... |
ORPHA:2916 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... |
OMIM:614592 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Atrial se... |
OMIM:613610 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Relative macrocephaly, Dental crowding, Small for gestational age, Abnormal external genitalia, L... |
ORPHA:231140 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerar... |
ORPHA:1812 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overridin... |
ORPHA:3186 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Postnatal growth retardat... |
ORPHA:254531 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo... |
ORPHA:1772 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Microcephaly, Postnatal growth retardation, Cryptorchidism, Congenital... |
ORPHA:319332 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Proximal place... |
OMIM:261540 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di... |
OMIM:615777 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Decreased circulating parathyroid... |
OMIM:241530 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia... |
ORPHA:3035 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Micrognat... |
ORPHA:85184 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl... |
OMIM:184705 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Xylt1-Cdg |
|
Relative macrocephaly, Pes planus, Short stature, Acne, Coxa valga, Microcephaly, Flared metaphys... |
ORPHA:370930 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Pectus carinatum, Subvalvular aortic stenosis, Apl... |
OMIM:151100 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Short stature, Hypoplasia of the maxilla, Carious teeth, H... |
ORPHA:50814 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Microcephaly, Cryptorchidism, Genu valgum, Wide mouth, Gr... |
OMIM:617798 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Atrial septal d... |
OMIM:268300 |
| Chromosome 16Q22 Deletion Syndrome |
|
Broad hallux, Small for gestational age, Hypospadias, Micrognathia, Microcephaly, Cryptorchidism,... |
OMIM:614541 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Missing ... |
ORPHA:1647 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Pre... |
ORPHA:96184 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... |
OMIM:201000 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature, Microcephaly |
ORPHA:2435 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, High... |
OMIM:611209 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Cog7-Cdg |
|
Failure to thrive, Small for gestational age, Micrognathia, Postnatal growth retardation, Long fi... |
ORPHA:79333 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Aplasia of ... |
ORPHA:2232 |
| Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture... |
ORPHA:263463 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of... |
ORPHA:2311 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Short stature, Malar promi... |
ORPHA:2522 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Abnormal rib morpholog... |
ORPHA:3301 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Micromelia, Microcephaly, Cryptorchidism, Abnorma... |
ORPHA:2772 |
| Koolen-De Vries Syndrome |
|
Arachnodactyly, Abnormal dental enamel morphology, Bicuspid aortic valve, Abnormality of the dent... |
ORPHA:96169 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Narrow chest, Absent or minimally ossified vertebr... |
ORPHA:93271 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Microcephaly, Abnorma... |
ORPHA:1005 |
| Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Microcephaly, Short statur... |
ORPHA:808 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Short stature, Pectus excavatum, Carious teeth, Deep philtrum, Thick lower lip vermilion, Cryptor... |
ORPHA:2701 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... |
ORPHA:3455 |
| Acrofacial Dysostosis, Catania Type |
|
Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, Bilateral single transverse pal... |
ORPHA:1786 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:816 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
| Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Abnormality of the dentition, Secundum atrial septal defect, Microcephaly, Wide mo... |
OMIM:615802 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo... |
ORPHA:2879 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Temtamy Syndrome |
|
Pes planus, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, T... |
OMIM:218340 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Meckel Syndrome 12 |
|
Rocker bottom foot, Microcephaly, Micrognathia, Hypoplasia of the uterus, Vaginal atresia, Arthro... |
OMIM:616258 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, Anteriorl... |
OMIM:276820 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Ventricular septal defect, Radial ... |
OMIM:607323 |
| Temple Syndrome |
|
Relative macrocephaly, Small for gestational age, Short stature, Decreased response to growth hor... |
ORPHA:254516 |
| Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones... |
ORPHA:73 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp... |
OMIM:206920 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnorma... |
ORPHA:2145 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Sing... |
ORPHA:508488 |
| Immunodeficiency 10 |
|
Amelogenesis imperfecta |
OMIM:612783 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Abnormality of the d... |
ORPHA:576283 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo... |
OMIM:268400 |
| Distal Duplication 18Q |
|
Hypoplasia of penis, Abnormal dental morphology, Camptodactyly of finger, Arachnodactyly, Microgn... |
ORPHA:1716 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Mic... |
ORPHA:3068 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ... |
ORPHA:2063 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Micrognathia, Pectus e... |
OMIM:179613 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... |
OMIM:617604 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| 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, Short stature, Dy... |
ORPHA:2067 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Abnormality of the dentition, Carious teeth, Mandibular osteomyelit... |
ORPHA:53 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Apla... |
ORPHA:85199 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Syndactyly, Ambiguous genitalia, Small for gestational age, Elbow contract... |
OMIM:616489 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Micrognathi... |
ORPHA:1834 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ... |
OMIM:615633 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Proximal placemen... |
OMIM:122470 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Pectus carinatum, Downturned corners of mouth, Prominent ... |
OMIM:618371 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Short stature, Proximal placement of thumb, Micrognathia, Microcephaly,... |
OMIM:300590 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee... |
OMIM:305620 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Pursed lips, Inguinal hernia, Hip contracture, Micrognathia, Metatarsus adductu... |
OMIM:616266 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Sev... |
OMIM:184250 |
| Cranioectodermal Dysplasia 3 |
|
Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Short stature, S... |
OMIM:614099 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Pes planus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Dental crowd... |
OMIM:225400 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Inguinal hernia, Bifid scrotum, Small for gestational age, Dys... |
ORPHA:397590 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia,... |
OMIM:273395 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hi... |
ORPHA:2780 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Narrow greater sciatic ... |
OMIM:312870 |
| Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes... |
ORPHA:3163 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Premature ovarian insufficiency, Osteosclerosis of the base of the ... |
OMIM:609993 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing ribs, Long... |
ORPHA:2759 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... |
OMIM:608022 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl... |
ORPHA:2554 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnor... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnor... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnor... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnor... |
ORPHA:881 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongue, Mic... |
OMIM:615948 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Ca... |
OMIM:616354 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Limb joint contracture, Hypogon... |
OMIM:612079 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... |
ORPHA:94065 |
| Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... |
OMIM:614608 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
| Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Displacement of the urethral meatus, Abnormality of ... |
ORPHA:3378 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... |
ORPHA:289176 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Enlargement of the costochondral jun... |
OMIM:271650 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Short statur... |
OMIM:190351 |
| Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Small for... |
OMIM:616229 |
| Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... |
ORPHA:46627 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N... |
OMIM:311900 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o... |
OMIM:154230 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... |
ORPHA:420561 |
| Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati... |
ORPHA:96170 |
| Acrocraniofacial Dysostosis |
|
Short stature, Craniosynostosis, Micrognathia, Pectus excavatum, Tapered finger, Coxa valga, Micr... |
ORPHA:949 |
| Proteus Syndrome |
|
Thin bony cortex, Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hype... |
OMIM:176920 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Dyspareunia, Skin rash, Abnormal dental enamel morphology, Cheil... |
ORPHA:1334 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Cortically dense long tubular bones, Syndactyly, Sclerotic scapulae, Broad... |
OMIM:269500 |
| Charge Syndrome |
|
External genital hypoplasia, Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septa... |
OMIM:214800 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Aplastic clavicle, Congenital diaphragmatic hernia,... |
OMIM:616546 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Synostos... |
ORPHA:90652 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Slender long bone... |
ORPHA:1486 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Clitoral hypertrophy, Hypoplastic ischia, Micrognathia, Bowing of the le... |
ORPHA:313855 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Short palm, Small scrotum, Clitoral hypertrophy, Shor... |
ORPHA:85201 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Kbg Syndrome |
|
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Short stature, Microcepha... |
ORPHA:2332 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, S... |
OMIM:145420 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Acne, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of second... |
ORPHA:785 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Short stature, Delayed eruption of primary t... |
OMIM:619322 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomat... |
ORPHA:2215 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypospadias, Microcephaly, Flexion contracture, Orofacial cleft, Grow... |
ORPHA:17 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Carious teeth, Osteoporosis, Recurrent fractures |
OMIM:126550 |
| Immunodeficiency 9 |
|
Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hand polydactyly, Transp... |
OMIM:314390 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Atrial septal defect, Ventricular septal defect,... |
ORPHA:392 |
| Fanconi Anemia, Complementation Group O |
|
Short stature, External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thum... |
OMIM:613390 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Tarsal synostosis, Camptodactyly of finger, Talipes, Abnormality of the humerus, A... |
ORPHA:1836 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:618624 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Thoracic kyphosis... |
ORPHA:508498 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Osteogenesis Imperfecta, Type Xv |
|
Short stature, Thin ribs |
OMIM:615220 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... |
OMIM:614034 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Aplasia of the v... |
OMIM:271520 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate |
OMIM:617337 |
| Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Long philtrum, Short statu... |
OMIM:270450 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... |
OMIM:619148 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Lipoatrophy, Micrognathia, Open bite, Carious teeth, Microcephaly, Cryptorc... |
ORPHA:2617 |
| Jacobsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypospadias, Micrognathia, Pectus excavatum, Mis... |
OMIM:147791 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Short... |
OMIM:136140 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Otitis media, Atrial septal defect, Broad hallux, Hypospa... |
ORPHA:353281 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Diabetes mellitus, Short stature, Abnormality of the dentition, Hypopla... |
ORPHA:1775 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner... |
OMIM:616268 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... |
ORPHA:488632 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... |
ORPHA:2741 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Cleft palate, Short gr... |
OMIM:256050 |
| White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Deep philtrum, Abnormal rib morphology, Clinodactyly of ... |
ORPHA:2475 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim... |
ORPHA:2975 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th... |
OMIM:613026 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum,... |
ORPHA:1507 |
| Kilquist Syndrome |
|
Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth, Pectus ca... |
OMIM:619080 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Pectus carinatum, High palate, Widely spaced teeth, Abnormal tricuspid... |
ORPHA:192 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Hypoparathyroidism, Bilateral single transverse palmar creases, Micromelia, Abn... |
ORPHA:50810 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Diastema, Agenesis of molar, Supernumerar... |
OMIM:619718 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Equinovarus deformity, Bilateral cryptorchidism, Hip dysplasia, Macrodontia of permanent maxillar... |
ORPHA:466722 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Bil... |
OMIM:619777 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Osteopenia, Short metatarsal, Clitoral hypoplasia, Long philtrum, Short me... |
OMIM:614813 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Micrognathia, Microcephaly, Cryptorchidism, Postnatal growth retardatio... |
OMIM:615419 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, External genital hypoplasia, Micrognathia, Tibial bowing, High palat... |
ORPHA:251028 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Sh... |
OMIM:618419 |
| Roifman Syndrome |
|
Thin upper lip vermilion, Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventri... |
OMIM:616651 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... |
ORPHA:1307 |
| Corneodermatoosseous Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, ... |
ORPHA:3194 |
| Caudal Regression Syndrome |
|
Maternal diabetes, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplas... |
ORPHA:3027 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Overlapping toe, Hypospadias, Endometriosis, Abnormality of the ... |
ORPHA:363444 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft... |
OMIM:264480 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Ventricular septal defect, Endometriosis, Micrognathia, Carious ... |
OMIM:613680 |
| Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... |
ORPHA:2234 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology |
ORPHA:257 |
| Silver-Russell Syndrome |
|
Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular skeleton morpho... |
ORPHA:813 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs |
OMIM:615368 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Fanconi Anemia, Complementation Group P |
|
Short stature, Microcephaly, Absent thumb, Short thumb, Micrognathia, Hypoplasia of the radius, C... |
OMIM:613951 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Pes planus, Dental crowding, Abnormality of the hand, Micrognathia, Pectus excavatum,... |
ORPHA:476126 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, ... |
ORPHA:818 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Abnormal sperm motility, F... |
ORPHA:244 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Lack of fa... |
ORPHA:2959 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe... |
ORPHA:245 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... |
ORPHA:1310 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic ... |
ORPHA:91 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Microcephaly, Decreased fertility, Hypoplasia of teeth, Growth delay, ... |
OMIM:234050 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Microcephaly, Thin ribs |
OMIM:617397 |
| Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna... |
OMIM:618150 |
| Trisomy 1Q |
|
Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit... |
ORPHA:261344 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short... |
OMIM:611717 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal... |
OMIM:609616 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Decreased body weight, Wrist ... |
ORPHA:800 |
| Pelger-Huet Anomaly |
|
Mild short stature, Ventricular septal defect, Eczema, Abnormality of the dentition, Gingival ove... |
OMIM:169400 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Hypopituitarism, Cleft upper lip, Cryptorchidism, ... |
OMIM:603671 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Otitis media, Atrial septal de... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Otitis media, Atrial septal de... |
ORPHA:353277 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Short philtrum, Atrial septal def... |
ORPHA:2044 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo... |
ORPHA:79500 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Severe short stature, Ventricular septal defect, Short stature, Congenital diaph... |
OMIM:601186 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ... |
ORPHA:198 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Small scrotum, Lip pi... |
ORPHA:1300 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Talipes, Short stature, Microcephaly, Hypoplastic left heart, Narro... |
OMIM:617661 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Small for gestational age, Hypospadias, Single transverse ... |
ORPHA:1708 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Small for gestational age, Postaxial polydactyly, Micr... |
OMIM:613792 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph... |
ORPHA:568 |
| Amed Syndrome, Digenic |
|
Short stature, Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus, Long thumb, Failure to... |
OMIM:619151 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
| Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thin upper lip vermilion, Rhizomelia, Short stature, Abnormality ... |
ORPHA:319182 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... |
ORPHA:239 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Recurrent skin infections, Abnormal dental enamel morphology, Premature loss o... |
ORPHA:2908 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... |
ORPHA:324636 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short stature, Thoracolumbar kyph... |
OMIM:212066 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Positional foot deformity, Aplasia/Hypoplasia of the gallbladd... |
ORPHA:96092 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl... |
OMIM:264270 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Psoriasiform dermatitis, Ventricular septal defect, Enterocolitis, Hypoplasia of the... |
OMIM:243150 |
| Harrod Syndrome |
|
Arachnodactyly, Hypospadias, Microcephaly, Cryptorchidism, Dental malocclusion, Abnormal shoulder... |
ORPHA:2115 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
| Luscan-Lumish Syndrome |
|
Mandibular prognathia, Short stature, Irregular menstruation, Advanced ossification of carpal bon... |
OMIM:616831 |
| Al Kaissi Syndrome |
|
Thin upper lip vermilion, Pes planus, Macrodontia, Short stature, Microcephaly, Postnatal growth ... |
OMIM:617694 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Maternal diabetes, Micrognathia, Carious teeth, Flared metaphysis,... |
ORPHA:93346 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Umbilical hernia, Dental crowding, Hiatus hernia |
OMIM:619769 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Scapular winging, Micrognathia, Dental malocclusion, Hypoplastic sweat glands, Locali... |
ORPHA:73223 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tibial bowing, Short phil... |
ORPHA:798 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorc... |
OMIM:309000 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Thick lower lip vermilion, Disp... |
ORPHA:583 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Congenital d... |
OMIM:601803 |
| Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Pectus carinatum, Reduced bone ... |
ORPHA:828 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Pre... |
OMIM:612651 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overlapping fingers, Overriding aorta, Ventricular septal defect... |
OMIM:617022 |
| Alg9-Cdg |
|
Micrognathia, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal left ventricul... |
ORPHA:79328 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone stimulation t... |
OMIM:300845 |
| Marden-Walker Syndrome |
|
Micrognathia, High, narrow palate, Abnormal sternum morphology, Congenital contracture, High pala... |
OMIM:248700 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Abnormal cortical bone morphology |
ORPHA:2512 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to... |
ORPHA:783 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Microcephaly, Open bite, Dental... |
ORPHA:3079 |
| Prune Belly Syndrome |
|
Failure to thrive, Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Crypt... |
ORPHA:2970 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalangeal thumb, At... |
OMIM:105650 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcephaly, Aplasia... |
ORPHA:364577 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Orofacial cleft, Symphalangism affecting the ph... |
ORPHA:2990 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact... |
ORPHA:2886 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Small for gestational age, Fifth finger distal phalan... |
ORPHA:3369 |
| Bloom Syndrome |
|
Syndactyly, Small for gestational age, Microcephaly, Decreased fertility in females, Cryptorchidi... |
OMIM:210900 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Calvarial hyperostosis |
OMIM:612714 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Bronchiectasis |
OMIM:241600 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
| Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Ab... |
ORPHA:3015 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... |
OMIM:265000 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Micrognathia, 2-3 toe... |
OMIM:609625 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
OMIM:176270 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the dentit... |
ORPHA:77258 |
| Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Ventricular septal defect, Hypospadias, Micrognathia, Bifid uterus... |
OMIM:236680 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynostosis, Abnormal rib morphology, Clef... |
ORPHA:83 |
| Johnson Neuroectodermal Syndrome |
|
Failure to thrive, Severe short stature, Microcephaly, Carious teeth, Preaxial hand polydactyly, ... |
ORPHA:2316 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Hernia, Spina bifi... |
OMIM:193700 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... |
OMIM:201750 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Polycyth... |
ORPHA:2905 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Missing ribs, Cleft upper lip, Hiatus hernia, Microcephaly, Precoci... |
ORPHA:50 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
| Kabuki Syndrome 2 |
|
Natal tooth, Atrial septal defect, Short stature, Micrognathia, Microcephaly, Postnatal growth re... |
OMIM:300867 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta... |
OMIM:614837 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Short stature, ... |
OMIM:616331 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... |
OMIM:609029 |
| Cockayne Syndrome |
|
Congenital contracture, Abnormal dental morphology, Cryptorchidism, Agenesis of permanent teeth, ... |
ORPHA:191 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... |
ORPHA:861 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... |
ORPHA:2167 |
| Monosomy 18P |
|
Short stature, Micrognathia, Pectus excavatum, Carious teeth, Microcephaly, Cleft palate, Downtur... |
ORPHA:1598 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Delaye... |
OMIM:156550 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Diastema... |
OMIM:619698 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Lower limb asymmetry, Pectus excavatum, Supernumerary nipple, Abnormal t... |
ORPHA:64755 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Bell-shaped thorax, Growth delay, Atrial septal de... |
OMIM:614857 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Tombstone-shaped ... |
OMIM:108721 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Micrognathia |
OMIM:616901 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
| Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small... |
OMIM:269880 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Scarring, Craniosynostosis, Oral mucosal blisters, Growth delay, Atrop... |
ORPHA:79396 |
| Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
| Wiedemann-Steiner Syndrome |
|
Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of... |
OMIM:605130 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Hypospadias, Single transverse palmar crease, Protruding tong... |
OMIM:610253 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Thrombocytosi... |
OMIM:615934 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... |
OMIM:608747 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Short tubular b... |
OMIM:184253 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft li... |
OMIM:603457 |
| Jacobsen Syndrome |
|
Long hallux, Long philtrum, Broad hallux phalanx, Finger syndactyly, Short stature, Cryptorchidis... |
ORPHA:2308 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patc... |
OMIM:241410 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Atrial septal defect, Craniosynostosis, Micrognathia, Tapered finger, Microceph... |
OMIM:620005 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short pa... |
ORPHA:175 |
| Immunodeficiency 92 |
|
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... |
OMIM:619652 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati... |
ORPHA:77301 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Atria... |
OMIM:617602 |
| Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, S... |
ORPHA:2345 |
| Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Bifid scrotum, Hypoplasia of penis, Hypospadias, Congenital diaph... |
ORPHA:887 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:133540 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperuricemia, Oral aversion |
ORPHA:134 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Bilateral single transverse palmar... |
ORPHA:3380 |
| Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Inguinal hernia, Rocker bottom foot, Micrognathia, Microcephaly, Flexion contra... |
OMIM:618947 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br... |
OMIM:300106 |
| Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Micrognathia, Cryptorchidism, Patellar aplasia, Abnormal ... |
ORPHA:96061 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, Elb... |
OMIM:272430 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Cutane... |
OMIM:211380 |
| De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Talipes calcaneovalgus, High palate, Short sta... |
ORPHA:2962 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Anterior pituita... |
OMIM:619841 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro... |
ORPHA:96182 |
| 6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Hypospadias, Micrognathia, Phimosis, High, narrow ... |
ORPHA:75857 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... |
ORPHA:235 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas... |
ORPHA:199276 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Abnormal pulmonary valve morphology, Prematu... |
ORPHA:667 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Acne, Hyperinsulinemia, Increased serum estr... |
OMIM:615363 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
| Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Multipl... |
ORPHA:157954 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Diabetes mellitus, Short stature, Abnormal dental enamel morphology, Cleft upper lip, Microcephal... |
OMIM:601701 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Short philtrum, Abnormality of the uterus, Hypoplasia of the thymus, Atrial septal ... |
ORPHA:567 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Acroosteolysis of distal phalanges (feet), Micrognathia, Increased intraabdominal f... |
ORPHA:280365 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Failure to thr... |
OMIM:247200 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Failure to thrive, Bicuspid aortic valve, Short stature, Cleft upper li... |
OMIM:243310 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Postaxial hand polydactyly... |
ORPHA:110 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Short stature, Microcephaly, Pectus excavatum, High, na... |
OMIM:612513 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis |
OMIM:212065 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Per... |
ORPHA:93325 |
| Sotos Syndrome |
|
Mandibular prognathia, Atrial septal defect, Pes planus, Ventricular septal defect, High, narrow ... |
OMIM:117550 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Dysm... |
ORPHA:2348 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Finger clinodactyly, High palate, Biparietal narro... |
ORPHA:99776 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn... |
OMIM:619297 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Sho... |
ORPHA:2315 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Microcephaly, Vesicovaginal fistula, Fused teeth,... |
OMIM:300896 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Abnormality of primary teeth,... |
ORPHA:438216 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
| Peters Plus Syndrome |
|
Micromelia, Micrognathia, Bicuspid pulmonary valve, Clitoral hypoplasia, Widely spaced teeth, Cli... |
ORPHA:709 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Proximal placement of thumb, Missing ribs, Cleft upper lip, Hiatus ... |
OMIM:304050 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... |
ORPHA:1916 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Kbg Syndrome |
|
Short palm, Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease,... |
OMIM:148050 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Glomerulonephritis, Recurrent skin in... |
ORPHA:79408 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Ventricular septal defect, Short stature, Proportionate short stature, Hypoplas... |
OMIM:277600 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel |
ORPHA:169090 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Missing ribs, Bilateral cryptorchidism, Coronal hypospadias, Talipes equinovarus, ... |
OMIM:619859 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia |
OMIM:620306 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Atrial septal defect, Broad hallux, Camptodactyly of finger, O... |
OMIM:300963 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the... |
ORPHA:2578 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Leukocytosis, H... |
ORPHA:94093 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Flexion contracture, Hu... |
OMIM:207410 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal rib morphology, Small hand, Spina bifida occulta, Short foot, Micropenis, Re... |
ORPHA:488434 |
| Immunodeficiency 49 |
|
Umbilical hernia, Short philtrum, Natal tooth, Micrognathia |
OMIM:617237 |
| Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Short metatarsal, Narrow foot, Finger clinodactyly, Short philtr... |
ORPHA:2896 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Pneumonia, Skin rash, Bowing of ... |
ORPHA:1855 |
| Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Atrial ... |
OMIM:139210 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Abnormal fing... |
ORPHA:79404 |
| Spondylocostal Dysostosis 5 |
|
Severe short stature, Missing ribs, Disproportionate short-trunk short stature, Pectus carinatum,... |
OMIM:122600 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Long toe, Inguinal hernia, Flexion contracture of finger, Exaggerated cupid's bow, O... |
ORPHA:254528 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Short stature, Abnormality of the dentition, Tapered finger, Large ... |
ORPHA:261652 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Short stature, Osteomalacia, Thin bony cortex, Bowi... |
OMIM:300554 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, ... |
ORPHA:199 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Micrognathia, Microcephaly, Cr... |
ORPHA:251066 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Short stature, Cryptorchidism, Sl... |
ORPHA:2834 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Rib fusion, Obesit... |
ORPHA:261197 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Microcephaly, Carious teeth, Downturned corners of mouth... |
ORPHA:1110 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of... |
OMIM:609813 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Single transverse palma... |
OMIM:616788 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Micrognathia, Cryptorchidism, Hypoplasia ... |
ORPHA:3412 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Flexion contracture, Pectus carinatum, Widely spaced teeth, Narrow greater sciati... |
OMIM:253220 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... |
OMIM:213980 |
| Opsismodysplasia |
|
Short palm, Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid proces... |
OMIM:258480 |
| Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Eclabion |
OMIM:616395 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F... |
OMIM:259700 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Rocker bottom foot, Micrognathia, Keratitis, Talipes eq... |
ORPHA:453510 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... |
ORPHA:1596 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Inguinal hernia, Down-sloping shoulders, Proportionate short stature, Pectus excavatu... |
OMIM:227330 |
| Hereditary Acrokeratotic Poikiloderma |
|
Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Short stature, Open bite, Abnormal ri... |
ORPHA:2907 |
| Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature |
ORPHA:195 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Pancreatic cysts, Abnormal t... |
ORPHA:1318 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, C... |
ORPHA:1120 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Conical primary incisor |
OMIM:602400 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Widely spaced teeth, Short palm... |
OMIM:156200 |
| X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Prema... |
ORPHA:96201 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Micrognathia, Recurrent pneumonia, Bi... |
OMIM:609465 |
| Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Knee flexion contracture, High palate, Ulnar deviation of the ... |
ORPHA:3132 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Secundum atrial septal defect, High palate, Short palm, Atrial septal d... |
OMIM:249420 |
| Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation tes... |
OMIM:610829 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor... |
OMIM:194190 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou... |
ORPHA:280 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Decreased response to growth hormone stimulation test, ... |
OMIM:609053 |
| 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 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
| Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Abnormality of bone mineral density, Clinodactyly of th... |
ORPHA:138 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Micrognathia, Cryptorchidism, 2-3... |
OMIM:620025 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Ab... |
ORPHA:2556 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defe... |
ORPHA:769 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cellulitis |
ORPHA:2314 |
| Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Failure to thrive, Rhizomelia, Micrognathia, Coxa valga, Po... |
ORPHA:263508 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... |
ORPHA:93356 |
| Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia |
ORPHA:20 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorc... |
ORPHA:1827 |
| Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality o... |
ORPHA:744 |
| Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, High palate, Broad ribs, Broad metacarp... |
OMIM:608328 |
| Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Skin rash, Abnorma... |
ORPHA:330015 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Mi... |
OMIM:603467 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Clinodactyly of the 5th finger, Hypothyroidism, Hypospadias, Short stature, ... |
ORPHA:1606 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Do... |
ORPHA:261494 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Ventricular septal defect, Proportionate short stature, Hypoplasi... |
ORPHA:79345 |
| Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Hypospadias, Missing ribs, Microcephaly... |
OMIM:206900 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
| Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth ret... |
OMIM:266810 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Microc... |
OMIM:309801 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholecystitis, Broad ribs, Broad metacarpals, Tapered finger, Precocious puberty, Cleft lip, Obes... |
OMIM:301066 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphy... |
OMIM:618820 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Microdontia, ... |
ORPHA:904 |
| 9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morpholo... |
ORPHA:531151 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Hypot... |
OMIM:617577 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Short stature, Dextrocardia, Missing ribs, Pectus excavatum, Situs inversus totalis, Short thorax... |
OMIM:613686 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger |
OMIM:618367 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Short stature, Proximal placement of thum... |
OMIM:620113 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Atrial sep... |
ORPHA:672 |
| 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 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ... |
ORPHA:85165 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Sinusitis, Decreased response to growth hormone stimulation test, Metaphyseal chondro... |
ORPHA:811 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short stature, Micrognath... |
ORPHA:37553 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Severe short stature, Abnormal heart valve morphology... |
OMIM:309900 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Short stature, Osteomalacia, Thin bony cortex, Bowi... |
OMIM:300009 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Small for gestational age, Situs inversus totalis, Velopharynge... |
ORPHA:199302 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal heart valve morphology, Camptodactyly of finger, Short sta... |
ORPHA:93473 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:607872 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Female pseudoher... |
ORPHA:1519 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Microcephaly, Flexion contracture, Genu valgum, Downturned corn... |
OMIM:619321 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, High palate, Hypoplasti... |
ORPHA:93315 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Abnormal r... |
ORPHA:2876 |
| Noonan Syndrome 1 |
|
Micrognathia, High, narrow palate, Abnormal sternum morphology, High palate, Atrial septal defect... |
OMIM:163950 |
| Larsen Syndrome |
|
Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Spina bifida occulta,... |
OMIM:150250 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Micr... |
ORPHA:1465 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Wide anterior fontanel, Disproportionate short stature, Irregul... |
OMIM:616482 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Abnormal rib morphology, Bronchiectasis, Hepatiti... |
ORPHA:1163 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar h... |
OMIM:257980 |
| Joubert Syndrome 21 |
|
Bell-shaped thorax, Chronic sinusitis, Short ribs |
OMIM:615636 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Inguinal hernia, Short stature, Frontal open bite, Micrognathia, Postnatal growth ret... |
OMIM:225410 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Eczema, Conical toot... |
OMIM:305100 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids |
OMIM:175100 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen... |
OMIM:301040 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Long fingers,... |
ORPHA:3309 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Dubowitz Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Otitis media, Clinodactyly of the 5th... |
OMIM:223370 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Large for gestational age, Microcephaly, Dental malocclusion, Wide mout... |
OMIM:612731 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Micrognathia, Postnatal gro... |
ORPHA:1655 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Short stature, Mitral atresia, Hypoplasia of the radius... |
ORPHA:140952 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Ambiguous genitalia, Small for gestational age, Hypospadias, Short stature, Microg... |
OMIM:257300 |
| Brucellosis |
|
Osteomyelitis, Thrombocytosis, Elevated circulating C-reactive protein concentration, Anorexia, H... |
ORPHA:1304 |
| Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... |
ORPHA:1765 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic ... |
ORPHA:373 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Failure to thrive, Ventricular septal defect, Abnormal rib morphology, Pa... |
OMIM:118450 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Pes planus, Abnormal dental morphology, Eczema, Abnormality of the pin... |
ORPHA:369950 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Cleft palate |
ORPHA:158687 |
| Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Microcephaly, Absent thumb, Hypoplasia of ... |
OMIM:617784 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Carious teeth, Flexion contracture, Cardiomyopathy, Keratoconj... |
ORPHA:90324 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Trichothiodystrophy 2, Photosensitive |
|
Short stature, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Recurrent pneumonia,... |
OMIM:612301 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Arthritis, Iron deficiency anemia, Lymphoc... |
OMIM:301074 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Gingival overgrowth, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia... |
ORPHA:79255 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Inguinal hernia, Tapered toe, Tapered finger, Large for gestational age, Bilateral cryptorchidism... |
ORPHA:544488 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Gr... |
ORPHA:77298 |
| 3Mc Syndrome 1 |
|
Dental crowding, Atrial septal defect, Clinodactyly of the 5th finger, Spina bifida occulta, Caud... |
OMIM:257920 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, ... |
ORPHA:2745 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium |
ORPHA:220393 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Prominent interp... |
OMIM:135900 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Inguinal hernia, Short stature, Achille... |
OMIM:252940 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta |
OMIM:248190 |
| Monosomy 9P |
|
Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the dentition, Narrow ... |
ORPHA:261112 |
| Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Microcephaly, Cryptorchidism, Postnatal growth retardation, Wide ant... |
ORPHA:3338 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Atrial septal... |
ORPHA:857 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Short stature, Tape... |
ORPHA:1272 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
| Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Microcephaly, Postnatal growth retardation, Micrognathia, Wide mouth, Esophagitis |
ORPHA:79350 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Short stature, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,... |
ORPHA:69085 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Postnatal growth retardation, Disproportionate short-trunk short stature, Co... |
OMIM:313400 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... |
ORPHA:2136 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Single transverse pa... |
OMIM:150230 |
| Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal de... |
OMIM:275210 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Short stature, Thick lower li... |
OMIM:619727 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Pursed lips, Inguinal hernia, Micrognathia, Coxa valga, Large for gestational age, P... |
ORPHA:254519 |
| Septopreoptic Holoprosencephaly |
|
Microcephaly, Precocious puberty, Abnormal rib morphology, Anterior hypopituitarism, Central diab... |
ORPHA:280195 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clin... |
OMIM:280000 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Abnormal dental enamel morphology, Cryptorchidism, Scleritis, Blephariti... |
ORPHA:2273 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario... |
OMIM:131300 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Inguinal hernia, Supernumerary nipple, Micrognathia, Pectus excavat... |
OMIM:619122 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Microcep... |
ORPHA:233 |
| 17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Failure to thrive in infancy, Decreased response to growth hormone stim... |
ORPHA:529962 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Long toe, Short stature, Micrognathia, Long fingers, Cryptorchidism, Upper... |
OMIM:614527 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Thin upper lip vermilion, Pes planus, Small scrotum, Hypospadias, Short stature, Micr... |
OMIM:616734 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Hermansky-Pudlak Syndrome |
|
Cardiomyopathy, Menometrorrhagia, Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Severe short stature,... |
OMIM:231070 |
| Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Small for gestational age, Anterior rib cupping, Short stature, Metaphyseal ... |
OMIM:260400 |
| Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ... |
OMIM:135500 |
| Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Thickened ribs, Pectus carinatum, Cortical thickening of long ... |
ORPHA:309282 |
| Pentalogy Of Cantrell |
|
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cong... |
ORPHA:1335 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Hypospadias, Limited elbow movement, Cleft upper lip, Postnatal gro... |
OMIM:265050 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Ot... |
ORPHA:581 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... |
ORPHA:487796 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Skin rash, Pustule, Periostitis, Osteoly... |
OMIM:612852 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p... |
OMIM:617140 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
| Shwachman-Diamond Syndrome 2 |
|
Short stature, Anterior rib cupping, Microcephaly, Metaphyseal widening, High palate, Hyperechoge... |
OMIM:617941 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hypothyro... |
ORPHA:79259 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Failure to thrive, Bicuspid aortic valve, Short stature, Microcephaly, Pectus excavatum, Cryptorc... |
OMIM:613563 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac... |
OMIM:606170 |
| 3Mc Syndrome |
|
Craniosynostosis, Supernumerary nipple, Bilateral cryptorchidism, Postnatal growth retardation, H... |
ORPHA:293843 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Ambiguous genitalia, female, Lobul... |
OMIM:249000 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Severe short stature, Dilated c... |
OMIM:230500 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Short stature, Microcephaly, Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal a... |
OMIM:617914 |
| Tooth Agenesis, Selective, 4 |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr... |
OMIM:150400 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
| Adnp Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Broad hallux, Sandal gap, Single transverse palmar cre... |
ORPHA:404448 |
| Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Gingivit... |
ORPHA:477 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Pes planus, Inguinal hernia, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:93 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Gingival overgrowth, Alve... |
OMIM:301072 |
| Coccidioidomycosis |
|
Broad skull, Abnormal long bone morphology, Morbilliform rash, Abnormality of the male genitalia,... |
ORPHA:228123 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
| Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hern... |
OMIM:157800 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif... |
OMIM:123790 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Small for gestational age, Large for gestational age, Pos... |
ORPHA:254534 |
| Gardner Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke... |
ORPHA:79665 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Abnormal... |
ORPHA:3206 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
| Cerebrofaciothoracic Dysplasia |
|
Short stature, Cleft upper lip, Rib fusion, Cleft palate, Macrocephaly, Wide mouth, Narrow chest,... |
ORPHA:1394 |
| Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Downturned corners of mouth, Atrial septal defect, Clinodactyly ... |
OMIM:243800 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Neonatal death, Patent foramen o... |
OMIM:256520 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... |
OMIM:617247 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Abnormal cortical bone morphology |
OMIM:614886 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma... |
ORPHA:100924 |
| Vater/Vacterl Association |
|
Syndactyly, Failure to thrive, Ventricular septal defect, Hypospadias, Absent radius, Short thumb... |
OMIM:192350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,... |
OMIM:309583 |
| Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Bifid uterus, C... |
OMIM:258040 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Gingival fibromatosis, Cardiac rhabdomyoma, Adenoma sebac... |
OMIM:191100 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Short stature, Scarring, Maculopapular exanthema, Conical tooth, Micro... |
OMIM:308300 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d... |
ORPHA:363700 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Oro... |
OMIM:309800 |
| Gapo Syndrome |
|
Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Um... |
OMIM:230740 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Micrognathia, Microcephaly, Posterior rib gap, Cleft pa... |
ORPHA:1393 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Cleft palate, Growth delay, Bilate... |
OMIM:614083 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphol... |
ORPHA:217085 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Short stature, Micrognathia, Pectus excavatum, Persistence of primary teeth, A... |
ORPHA:2785 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor... |
OMIM:620186 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Anterior ... |
OMIM:102700 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absen... |
OMIM:227650 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphol... |
ORPHA:217093 |
| Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Abnormal rib morphology, Cleft palate |
OMIM:118100 |
| Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Short stature, Congenital diaphragmatic hernia, Microc... |
ORPHA:991 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Lo... |
OMIM:202010 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Craniosynostosis, Bifid uterus, Abnormal reproductive system ... |
ORPHA:1521 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Large hands, Umbilical hernia, Acute pancreatitis, Lipodystrophy, Reduced ... |
OMIM:269700 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Cardiomega... |
ORPHA:96191 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, S... |
OMIM:614188 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Cleft hard palate, ... |
ORPHA:261537 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent ra... |
OMIM:600901 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Acute pancreatitis, Cystic angiomatos... |
OMIM:608594 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Asymmetric septal hypertrophy, Everted lower lip vermilion, Hernia, Dense calvaria |
OMIM:252930 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Cleft hard palate, ... |
ORPHA:2152 |
| Loeys-Dietz Syndrome |
|
Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Pectus excav... |
ORPHA:60030 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... |
ORPHA:1652 |
| Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Short stature, Pectus excavatum, Cryptorchidism, Cigarette-paper scars, Cystocel... |
OMIM:130050 |
| Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Micrognathia, Morgagni... |
OMIM:613309 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of th... |
ORPHA:2369 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Downturned corners of mouth, High palate, Atrial septal defect, ... |
OMIM:619522 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia |
OMIM:184400 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Small for gestational age, Hypergonadotropic hypogonadism, Absent thum... |
OMIM:227645 |
| Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot morphology, Abnor... |
ORPHA:1666 |
| Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Failure to thrive, Tented upper lip vermilion, Lipodystrophy, Microgna... |
ORPHA:435628 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... |
ORPHA:168558 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Aplasia of... |
ORPHA:457284 |
| Boomerang Dysplasia |
|
Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
| Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Enamel hypomineralization, Reduced bone mineral... |
ORPHA:47159 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Pedal edema |
OMIM:152800 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Abnormality of neutrophil physiology, Impair... |
ORPHA:2968 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Short hallux, Mi... |
OMIM:620305 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth |
OMIM:617799 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormal rib morphology, Cachexia |
ORPHA:93941 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Cleft hard palate, ... |
ORPHA:261552 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal def... |
ORPHA:2729 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Rib fusion, Short stature, Disproportionate short-trunk short stature |
OMIM:277300 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion, Disproportionate short-trunk short stature |
OMIM:608681 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the gingiva, Osteoarthritis, Gingivitis, Microdontia, Abnormality of the wrist, Ab... |
ORPHA:285 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bifid scrotum, Ventricular septal defect, Hypospadias, Short stature, ... |
OMIM:235730 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2-4 f... |
OMIM:107480 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Orofacial cleft, Aplasia of the vagina, Supernumerary ribs, Sprengel anoma... |
OMIM:193500 |
| Pontocerebellar Hypoplasia Type 7 |
|
Microcephaly, Micrognathia, Cryptorchidism, Abnormal scrotal rugation, Gonadal dysgenesis, High p... |
ORPHA:284339 |
| Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Posterior rib fusion, Neonatal death... |
OMIM:265380 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging... |
ORPHA:286 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Pedal edema, Increased head circumference, Atrial se... |
ORPHA:821 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Gout, Hypoplasia of the ute... |
OMIM:137920 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Radioulnar synostosis, Lam... |
OMIM:101400 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Asymmetric septal hypertrophy, Umbilical hernia, Dense calvaria |
OMIM:252900 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, B... |
ORPHA:2736 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bif... |
ORPHA:500150 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:158330 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Psoriasiform dermatitis, Diabetes mellitus, Septate vagina, Uterus didelphys,... |
ORPHA:2237 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni... |
OMIM:618280 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Depression |
OMIM:604121 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Micropenis, Decreased testicular size |
OMIM:615287 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyperkalemia, Depression, Self-inj... |
ORPHA:293987 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Failure to thrive, Rib fusion |
OMIM:614688 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Narcolepsy, Depression, Hepatosplenome... |
ORPHA:646 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Depression |
ORPHA:314404 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Thin vermilion border, Erectile dysfun... |
ORPHA:649 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Microcephaly, Bifid uterus, Cryptorchidism, Epispadi... |
ORPHA:322 |
| Branchiooculofacial Syndrome |
|
Micrognathia, Cleft upper lip, Abnormality of the dentition, Lower lip pit, Cleft of chin, Elbow ... |
OMIM:113620 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus |
OMIM:617466 |
| African Trypanosomiasis |
|
Aggressive behavior, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Irritability |
ORPHA:3385 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
