| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization,... |
OMIM:618961 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Narrow chest, Unossified sacrum, Cardiorespiratory arrest, Micromelia, Absent v... |
ORPHA:93296 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysi... |
OMIM:215045 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micr... |
OMIM:614524 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... |
OMIM:200600 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... |
OMIM:151210 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Bell-shaped thorax, Death in childhood, Short neck, Flat acetabu... |
OMIM:613320 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... |
ORPHA:564003 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... |
OMIM:227270 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... |
OMIM:228520 |
| Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... |
OMIM:224300 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Three M Syndrome 1 |
|
Short neck, Hip dislocation, Short 5th finger, Increased vertebral height, Short thorax, Clinodac... |
OMIM:273750 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... |
OMIM:127300 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Genu valgum, Bell-shaped thorax, Short ribs... |
ORPHA:1803 |
| Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... |
ORPHA:1801 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Mietens-Weber Syndrome |
|
Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim... |
OMIM:249600 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... |
ORPHA:50945 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... |
OMIM:187601 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... |
OMIM:256050 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Narrow chest, Micromelia, Respiratory insufficiency, Absent or minimally ossifi... |
OMIM:600972 |
| Ulnar Hypoplasia With Impaired Intellectual Development |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Atelectasis, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Talipes, Hypopl... |
ORPHA:2249 |
| Osseous Heteroplasia, Progressive |
|
Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth |
OMIM:166350 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Wide nasal bridge, Pectus carinatum, Depressed nasal bridge, Platyspondyly, Short finger, Hyperex... |
OMIM:313420 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... |
OMIM:602557 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... |
ORPHA:1856 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Depressed nasal ridge, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnor... |
ORPHA:1842 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... |
ORPHA:1972 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... |
OMIM:271665 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia |
OMIM:618732 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot |
ORPHA:1122 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Fibrochondrogenesis |
|
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morpho... |
ORPHA:2021 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... |
ORPHA:2491 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... |
OMIM:611263 |
| Fetal Akinesia Deformation Sequence 4 |
|
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, ... |
OMIM:618393 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... |
OMIM:215140 |
| Arms, Malformation Of |
|
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna |
OMIM:107900 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart... |
ORPHA:2347 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... |
OMIM:311895 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum |
OMIM:618155 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Thoracic scoliosis, Talipes eq... |
OMIM:616716 |
| Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... |
OMIM:108720 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... |
ORPHA:2141 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros... |
OMIM:609052 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Talipes equinovarus, ... |
ORPHA:1865 |
| Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
| Marshall-Smith Syndrome |
|
Choanal atresia, Slender long bone, Retrognathia, Bruising susceptibility, Anteverted nares, Ging... |
ORPHA:561 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Neonatal respira... |
OMIM:187600 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... |
OMIM:200610 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... |
OMIM:600785 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... |
OMIM:612447 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnorma... |
ORPHA:3268 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... |
OMIM:186500 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... |
OMIM:616897 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... |
ORPHA:2831 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Sho... |
OMIM:241800 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... |
OMIM:271700 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar f... |
ORPHA:217340 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... |
OMIM:620076 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... |
OMIM:271530 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Tongue fasciculations, Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondyl... |
OMIM:600561 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Metatropic Dysplasia |
|
Depressed nasal bridge, Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplasti... |
ORPHA:2635 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Atelosteogenesis Type Ii |
|
Wide nasal base, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Bell-shaped thorax, B... |
ORPHA:56304 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration,... |
ORPHA:70589 |
| Pyle Disease |
|
Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of... |
OMIM:265900 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Postaxial foot polydactyly, Kyphosis, Bulbous nose, Microdontia, Short sternum, Post... |
OMIM:258850 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal metaphysis morphology, ... |
ORPHA:1040 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Narrow chest, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long... |
OMIM:224400 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Open mouth, Protruding tongue, Short neck, Everted lower lip vermilion, Thoracolumbar kyphoscolio... |
OMIM:212066 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... |
ORPHA:2563 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel... |
ORPHA:440354 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Short nose |
DECIPHER:52 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Depressed nasal bridge, Thoracic hypoplasia, Lateral clavicle hoo... |
OMIM:617895 |
| Raine Syndrome |
|
Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud... |
OMIM:259775 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizom... |
OMIM:300863 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
| Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Thoracic hypoplasia, Dumbbell-shaped humerus, Later... |
OMIM:211350 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... |
OMIM:619773 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Resp... |
OMIM:616300 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Abnormality of the dentition, Metaphyseal cupping, Rachitic rosary, Unossified ver... |
OMIM:241500 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Elevated circulating parathyroid hormone level, Metacarpal periosteal thickening, Cal... |
OMIM:617994 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... |
OMIM:100800 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Retrognathia, Camptodactyly of finger, Abnormal lung lobation, Abn... |
ORPHA:2631 |
| Odontochondrodysplasia |
|
Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone... |
ORPHA:166272 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Seckel Syndrome 4 |
|
Steep acetabular roof, Retrognathia, Underdeveloped nasal alae, 11 pairs of ribs |
OMIM:613676 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnorm... |
ORPHA:93267 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... |
ORPHA:1277 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Thoracic hypoplasia, Preaxial polydactyly, Micromelia, Intestinal m... |
OMIM:617866 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Prieto Syndrome |
|
Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathia, 11 pairs of... |
OMIM:309610 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... |
ORPHA:2098 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate |
ORPHA:2015 |
| Greenberg Dysplasia |
|
Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ... |
ORPHA:1426 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... |
OMIM:184255 |
| Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence |
OMIM:261800 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... |
OMIM:173800 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Neonatal respiratory distress, Atelectasis |
OMIM:267450 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Pes planus, Hypoplasia o... |
OMIM:618395 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... |
ORPHA:66637 |
| Craniodiaphyseal Dysplasia |
|
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Diaphyseal undertubulation,... |
ORPHA:1513 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Craniofacial hyperostosis, Depressed nasal ridge, Unossifi... |
ORPHA:3003 |
| Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint... |
ORPHA:40 |
| Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc... |
ORPHA:93328 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm... |
OMIM:249710 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... |
ORPHA:163649 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Tongue fasciculations, Ankle flexion contracture, Interphalangeal joint contracture of finger, Re... |
ORPHA:1145 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff... |
ORPHA:93308 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Micrognathia, Bowing of the long bones, Abnormal metacarpal morph... |
ORPHA:628 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... |
OMIM:184260 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... |
OMIM:602471 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... |
ORPHA:1423 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... |
OMIM:609616 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
| Momo Syndrome |
|
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... |
OMIM:157980 |
| Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Long philtrum, Short nose |
OMIM:125700 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the... |
ORPHA:2256 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Neonatal death, R... |
OMIM:611890 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Abnor... |
ORPHA:93351 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... |
OMIM:156510 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri... |
OMIM:612089 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Calcification... |
ORPHA:3348 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Intervert... |
OMIM:609223 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Gm1-Gangliosidosis, Type Ii |
|
Thoracolumbar kyphosis, Platyspondyly, Joint stiffness, Gingival overgrowth, Narrow mouth, Protru... |
OMIM:230600 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu... |
OMIM:614091 |
| Progressive Osseous Heteroplasia |
|
Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl... |
ORPHA:2762 |
| Catel-Manzke Syndrome |
|
Scoliosis, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness... |
ORPHA:1388 |
| Tarp Syndrome |
|
Wide nasal bridge, Meckel diverticulum, Clinodactyly, Anteverted nares, Micrognathia, Glossoptosi... |
OMIM:311900 |
| Acrodysostosis |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi... |
ORPHA:950 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... |
ORPHA:53697 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Abnormal lip morpholog... |
ORPHA:2759 |
| Scarf Syndrome |
|
Wide nasal base, Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Joint hy... |
ORPHA:3134 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Metaphyseal spurs, Thoracic hypoplasia, Micromelia, Irregular epiphyses, Posterior... |
OMIM:608728 |
| Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra... |
OMIM:617194 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Tooth malposition, Metaphyseal cupping, Choanal atresia, Osteopenia, Pathologic fracture, Microgn... |
OMIM:156400 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Proxi... |
OMIM:609324 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Narrow mouth, Redu... |
ORPHA:2370 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Natal tooth, ... |
OMIM:225500 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu... |
OMIM:613091 |
| Orofaciodigital Syndrome Type 3 |
|
Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Lobulated tongue, Hamartom... |
ORPHA:2752 |
| Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... |
ORPHA:63446 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... |
OMIM:251450 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, Cleft lip, Hama... |
OMIM:617925 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Joint stiffness... |
ORPHA:896 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis |
ORPHA:718 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malar flattening, Sinu... |
OMIM:242860 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis... |
OMIM:122860 |
| Meconium Aspiration Syndrome |
|
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothor... |
ORPHA:70588 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... |
ORPHA:3104 |
| Mietens Syndrome |
|
Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,... |
ORPHA:2557 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Bronchiectasis, Abn... |
ORPHA:922 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Death in child... |
OMIM:602535 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Camptodactyly of finger, Respiratory insufficiency, Abnormal hip bone mor... |
ORPHA:1488 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Wide nasal bridge, Short thorax, Abnormal sacrum morphology, Anteverted nares, Vertebral segmenta... |
ORPHA:1797 |
| Perching Syndrome |
|
Depressed nasal bridge, Cyanosis, Joint contracture, Camptodactyly, High palate, Scoliosis |
OMIM:617055 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Orofacial c... |
OMIM:615630 |
| Acromicric Dysplasia |
|
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... |
ORPHA:969 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R... |
ORPHA:60032 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Ataxia, Osteoporosis... |
OMIM:136300 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... |
OMIM:617719 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... |
OMIM:155050 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... |
OMIM:618363 |
| Scarf Syndrome |
|
Wide nasal bridge, Pectus carinatum, Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnor... |
OMIM:312830 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... |
OMIM:616531 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death ... |
ORPHA:1354 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... |
ORPHA:2204 |
| C1Q Deficiency 2 |
|
Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis, Atelectasis |
OMIM:620321 |
| Maxillonasal Dysplasia |
|
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Short distal phalanx of... |
ORPHA:1248 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs... |
OMIM:617877 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Failure to thrive, Joint hypermobility, Kyphoscoliosis, Amelogenesis imperf... |
OMIM:614727 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... |
OMIM:166210 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:254361 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... |
OMIM:252600 |
| Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul... |
OMIM:212780 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... |
ORPHA:1988 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Rickets, Osteomalacia |
OMIM:146350 |
| Achondrogenesis Type 1B |
|
Narrow chest, Short thorax, Micromelia, Long philtrum, Abnormal enchondral ossification, Antevert... |
ORPHA:93298 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... |
OMIM:208500 |
| Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Short nose, Anteverted... |
ORPHA:93299 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... |
ORPHA:3144 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Coronal craniosynostosis, Short toe, Short nose, Genu valgum, Micrognathia, Na... |
OMIM:614078 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure |
ORPHA:70587 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Short neck, Delayed puberty, Hyper... |
OMIM:616033 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... |
ORPHA:261120 |
| 3M Syndrome |
|
Hypoplastic ischia, Congenital hip dislocation, Thin ribs, Micromelia, Slender long bone, Short t... |
ORPHA:2616 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Thoracic hypoplasia, Short neck, Limb undergrowth, Brachydactyly, Short lo... |
ORPHA:221054 |
| Achondroplasia |
|
Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Limited elbow extensio... |
ORPHA:15 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st... |
ORPHA:1263 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Abnormal epiphysis morphology, Disproportionate short stature, Reduced bone mineral de... |
ORPHA:2501 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr... |
ORPHA:93284 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Depressed... |
ORPHA:2097 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Retrognathia, Anteverted nares, Cutis marmorata, Protruding tongue, Death in childho... |
OMIM:612938 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... |
OMIM:222600 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Pursed lips, Micrognathia, Hip contracture, Talipes equinovarus, Short neck, Enlarged naris, Resp... |
OMIM:616266 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Respiratory insufficiency, Narrow mouth, Sprengel anomaly, Scapular winging, Acrocya... |
ORPHA:2901 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Depressed nasal bridge, Platyspondyly, Premature osteoarthritis, Anteverted... |
OMIM:184840 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
| Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Macrodontia, High palate, Short foot, Short nose |
OMIM:300577 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... |
OMIM:602418 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S... |
ORPHA:168555 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Ulnar bowing, D... |
OMIM:619135 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... |
ORPHA:93333 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Neonatal respiratory distress, Ulnar deviation of the hand or of fingers of ... |
OMIM:214100 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs ... |
OMIM:259440 |
| Diaphanospondylodysostosis |
|
Micrognathia, Bell-shaped thorax, Decreased skull ossification, Talipes equinovarus, Short neck, ... |
OMIM:608022 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... |
OMIM:184250 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Median cleft palate, Gingiva... |
ORPHA:1832 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Microretrognathia, Bruising susceptibility, ... |
OMIM:616229 |
| Winchester Syndrome |
|
Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals... |
OMIM:277950 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... |
ORPHA:2639 |
| Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Multiple lipomas, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Abnormal nasopharynx morph... |
OMIM:269150 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis... |
OMIM:271630 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Tarp Syndrome |
|
Wide nasal bridge, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Anteverted nar... |
ORPHA:2886 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Genu valgum, M... |
OMIM:224690 |
| Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Aplasia/hypoplasia of the femur, Long nose, Depressed nasal rid... |
ORPHA:2769 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Hypocalcemia, Short humerus, Short ribs, Talipes equinovarus... |
OMIM:607143 |
| Ollier Disease |
|
Precocious puberty, Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple ... |
ORPHA:296 |
| Mucopolysaccharidosis Type 4 |
|
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Abnormal meta... |
ORPHA:582 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Protruding tongue, Abnormal thumb m... |
ORPHA:324410 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Narro... |
OMIM:200990 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Short femoral neck, Inguinal hernia, Decreased body weight, Brachydact... |
OMIM:618392 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ankle flexion contracture, Retrognathia, Elbow flexion contracture, Internally rotated shoulders,... |
OMIM:617468 |
| Cornelia De Lange Syndrome 1 |
|
Cutis marmorata, Micrognathia, Short neck, High palate, Dislocated radial head, High, narrow pala... |
OMIM:122470 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
| Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... |
OMIM:164745 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... |
ORPHA:2839 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... |
ORPHA:1427 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h... |
OMIM:611717 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Thick lower lip vermilion, Prominent nose, Hypop... |
OMIM:234250 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Wide nasal bridge, Fractured rib, Narrow chest, Depressed nasal bridge, Metaphyseal sp... |
OMIM:618188 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Platyspondyly, ... |
ORPHA:163966 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, R... |
OMIM:135100 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... |
ORPHA:166277 |
| Ullrich Congenital Muscular Dystrophy |
|
Slender finger, Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fin... |
ORPHA:75840 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Ulbright-Hodes Syndrome |
|
Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova... |
ORPHA:3404 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Difficulty walking, Joint ... |
OMIM:208230 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... |
ORPHA:2025 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
| Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... |
OMIM:614900 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... |
OMIM:602271 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short foot, Short toe, Respiratory... |
OMIM:269860 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacif... |
OMIM:610978 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... |
ORPHA:3258 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, Bowing of the... |
OMIM:619073 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis, Short stature, Restricted chest movement, Growth delay, Tapered f... |
ORPHA:2812 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Supernumerary nipple, Abnormal foot morphology, Mesomelic leg shorten... |
OMIM:605274 |
| Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... |
OMIM:164900 |
| Congenital Myopathy 10A, Severe Variant |
|
Tongue fasciculations, Camptodactyly of finger, Respiratory insufficiency, Talipes equinovarus, P... |
OMIM:614399 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... |
OMIM:253000 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Sprengel anomaly, Vertebral wedging, Polydactyly, Brachydactyl... |
OMIM:109400 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... |
ORPHA:1452 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... |
OMIM:617974 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... |
OMIM:156550 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respirator... |
ORPHA:244 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoplasia of t... |
OMIM:241600 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neonatal asphyxia, Retrognathia, Respiratory insufficiency, Overlapping fingers, Micrognathia, Na... |
OMIM:608779 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs |
ORPHA:156728 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... |
ORPHA:93346 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax |
ORPHA:93283 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Rhizomelia, Abnormal pelvic girdle bone morphology, Stippled calcification proximal humeral epiph... |
OMIM:222765 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Finger joint contracture, Intrauterine growth retardation, Dysmetria, Abnormality o... |
ORPHA:48431 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypereosinophilia, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary t... |
ORPHA:2902 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Atelectasis, Death in infancy, Neonatal death, Joint hypermobility |
OMIM:300219 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Respiratory insufficiency, Neonatal death, Abnormal cartilage matrix, Pulmonary h... |
OMIM:245650 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abn... |
ORPHA:2180 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... |
OMIM:616583 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Retrognathia, Bulbous nose, Long nose, Clinodactyly of the 5th toe, Short sternum, Smooth philtru... |
OMIM:620113 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent to... |
OMIM:308050 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates |
ORPHA:64741 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature... |
ORPHA:1159 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Depressed nasal bridge, Osteopenia, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... |
OMIM:616809 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Acrocyanosis, Death in childhood, Short finger |
OMIM:302000 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... |
OMIM:250460 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ... |
OMIM:615503 |
| Shox-Related Short Stature |
|
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Maffucci Syndrome |
|
Pituitary adenoma, Multiple enchondromatosis, Osteolysis, Goiter, Neoplasm of the parathyroid gla... |
ORPHA:163634 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Depressed nasal bridge, Broad thumb, Prominent fingertip pads, Prominent crus of helix, Open mout... |
OMIM:617804 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... |
OMIM:612350 |
| Developmental And Epileptic Encephalopathy 80 |
|
Wide nasal bridge, Short distal phalanx of finger, Long philtrum, Micrognathia, Tented upper lip ... |
OMIM:618580 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... |
ORPHA:2228 |
| Smith-Mccort Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:607326 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m... |
OMIM:616867 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Malar flattening, Short sternum,... |
OMIM:222448 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu... |
OMIM:251230 |
| Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... |
ORPHA:2911 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... |
OMIM:602111 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia, Short stature, Osteoporosis, Growth delay |
OMIM:613606 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Acromicric Dysplasia |
|
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... |
OMIM:102370 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Thickened skin, Type I diabetes mellitus, Palmoplantar keratoderma, Joint stiffness, Reduced subc... |
ORPHA:1979 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pai... |
OMIM:201170 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Mosaic Trisomy 14 |
|
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Anteverted nares, Micrognathia, Promine... |
ORPHA:1703 |
| Turnpenny-Fry Syndrome |
|
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Prominent nasal tip, High palate, Thorac... |
OMIM:618371 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Osteopenia, Platyspondyly, Fractures of the long bones, Difficulty walking,... |
ORPHA:319195 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Narrow nasal bridge, Malar flatten... |
ORPHA:85172 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, Protruding tongue, Absent frontal sinuses, Talipes equinovarus, Widely-spaced maxil... |
OMIM:301040 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Wide nasal bridge, Neonatal respiratory distress, Respiratory insufficiency, 11 pairs of ribs, Mi... |
OMIM:618356 |
| Radial Hemimelia |
|
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... |
ORPHA:93321 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... |
OMIM:618728 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... |
ORPHA:94068 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Hypocalcemic tetany, Hypocalcemia, Stenosis of the medullary cavity of the... |
ORPHA:93324 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar... |
OMIM:600081 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones... |
OMIM:602080 |
| Campomelic Dysplasia |
|
Micrognathia, Bowing of the long bones, Talipes equinovarus, Short neck, Hypoplastic inferior ili... |
ORPHA:140 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... |
OMIM:612813 |
| Anauxetic Dysplasia 1 |
|
Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Short foot, Hypoplast... |
OMIM:607095 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Microglossia, Postaxial ... |
OMIM:263520 |
| Hallermann-Streiff Syndrome |
|
Small hand, Rib exostoses, Natal tooth, Micrognathia, Narrow mouth, Short foot, High, narrow pala... |
ORPHA:2108 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Tooth malposition, Micrognathia, Bowing of the long bones, Hip disloca... |
ORPHA:2484 |
