Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... |
OMIM:607778 |
Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck |
OMIM:613073 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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High palate, Abnormality of pelvic girdle bone morphology, Osteopenia, Rhizomelia, Wide nasal bri... |
OMIM:222765 |
Metaphyseal Acroscyphodysplasia |
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Genu varum, Cone-shaped metacarpal epiphyses, Severe short stature, Micromelia, Scoliosis, Short ... |
OMIM:250215 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Rhizomelia, Epiphyseal stippling, Short femur, Short humerus |
OMIM:600121 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... |
OMIM:619598 |
Dyggve-Melchior-Clausen Disease |
|
Genu varum, Pes planus, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Di... |
OMIM:223800 |
Acrodysostosis |
|
Abnormality of the ulna, Irregular menstruation, Open bite, Cone-shaped epiphysis, Micromelia, Sh... |
ORPHA:950 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Broad nasal tip, Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Brachyda... |
OMIM:601560 |
Omodysplasia 2 |
|
Long philtrum, Dislocated radial head, Rhizomelic arm shortening, Cryptorchidism, Micropenis, Lim... |
OMIM:164745 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Coronal cleft vertebrae, Depressed nasal ridge, Short 4th metacarpal, Epiphyseal stippling, Midfa... |
OMIM:118651 |
Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... |
OMIM:160120 |
Fibrochondrogenesis 1 |
|
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... |
OMIM:228520 |
Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... |
ORPHA:1452 |
Schneckenbecken Dysplasia |
|
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... |
OMIM:269250 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Abnormal form of the vertebral bodies, Depressed nasal ridge, Deviation of finger,... |
ORPHA:2831 |
Atelosteogenesis, Type I |
|
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, 11 pairs of ribs, Thoracic platyspondyly,... |
OMIM:108720 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:1856 |
Hypochondroplasia |
|
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... |
OMIM:146000 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... |
OMIM:601376 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Microcephaly, Hypoplastic ili... |
OMIM:210720 |
Léri-Weill Dyschondrosteosis |
|
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... |
OMIM:609052 |
Ulnar Hemimelia |
|
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... |
ORPHA:93320 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Narro... |
ORPHA:85166 |
Brachydactyly, Type C |
|
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... |
OMIM:113100 |
3M Syndrome |
|
Horizontal ribs, Long philtrum, Clinodactyly of the 5th finger, Everted lower lip vermilion, Micr... |
ORPHA:2616 |
Smith-Mccort Dysplasia 1 |
|
Genu varum, Delayed femoral head ossification, Disproportionate short-trunk short stature, Microc... |
OMIM:607326 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Midface retrusion, Micromelia, Fro... |
ORPHA:440354 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... |
OMIM:200700 |
Spondylometaphyseal Dysplasia, East African Type |
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Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Bell-shaped thorax, Short long b... |
OMIM:611702 |
Maxillonasal Dysplasia, Binder Type |
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Vertebral clefting, Short distal phalanx of finger, Depressed nasal bridge, Patchy distortion of ... |
OMIM:155050 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Clinodactyly, Long philtrum, Micrognathia, Thin upper lip vermilion, Macrocephaly, Short nose, Tr... |
OMIM:616331 |
Autosomal Dominant Omodysplasia |
|
Short palm, Long philtrum, Rhizomelia, Cryptorchidism, Elbow dislocation, Micrognathia, Hypoplasi... |
ORPHA:93328 |
Short Stature-Obesity Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Narrow nose, Micrognathia, Micromelia, Prominent n... |
OMIM:269870 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Advanced pneumatization of cranial sinuses, Flared femoral metap... |
ORPHA:85188 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Seve... |
OMIM:187600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Pes planus, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High... |
OMIM:612350 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Sinus tachycardia, Irregular cap... |
OMIM:616716 |
Achondrogenesis, Type Ia |
|
Hypoplastic ischia, Short ribs, Protuberant abdomen, Hypoplasia of the radius, Hypoplastic scapul... |
OMIM:200600 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... |
ORPHA:1505 |
Spondyloperipheral Dysplasia |
|
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... |
OMIM:271700 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... |
OMIM:147891 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, F... |
ORPHA:684 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... |
ORPHA:93388 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Shoulder dislocation, Long philtrum, Fibular hypoplasia, Mesomelic arm shortening, Ph... |
OMIM:171480 |
X-Linked Intellectual Disability, Cabezas Type |
|
Open bite, Sandal gap, Clinodactyly of the 5th finger, Pes cavus, Microcephaly, Scoliosis, Small ... |
ORPHA:85293 |
Mucolipidosis Ii Alpha/Beta |
|
Long philtrum, Macroglossia, Abnormal rib cage morphology, Metaphyseal widening, Hip dislocation,... |
OMIM:252500 |
Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Small for gestati... |
OMIM:227270 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Trigonocephaly, Micrognathia, Brachycephaly, Prominent metopic ridge, Broad phalanx, Broad metata... |
OMIM:275595 |
Intellectual Disability, Buenos-Aires Type |
|
Biparietal narrowing, High palate, Abnormality of pelvic girdle bone morphology, Open bite, Clino... |
ORPHA:3079 |
Acrocephalopolydactyly |
|
Brachydactyly, Hepatosplenomegaly, Depressed nasal ridge, Protuberant abdomen, Oxycephaly, Premat... |
ORPHA:221054 |
Three M Syndrome 2 |
|
Clinodactyly, Long philtrum, Severe short stature, Scapular winging, Prominent calcaneus, High pa... |
OMIM:612921 |
Osteoglophonic Dysplasia |
|
Chordee, Long philtrum, Broad palm, Pseudoarthrosis, Cloverleaf skull, Mandibular prognathia, Sho... |
OMIM:166250 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Biparietal narrowing, Finger syndactyly, Intrauterine ... |
ORPHA:1005 |
Thanatophoric Dysplasia, Type Ii |
|
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... |
OMIM:187601 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Clinodactyly, Hypoplasia of the ulna, Decreased body weight, Long philtrum, Everted lower lip ver... |
ORPHA:357175 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Severe postnatal growth retardation, Dislocated radial head, Pes planus, Narrow nose, Absent prox... |
OMIM:249600 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Fibular hypoplasia, Scoliosis, Short tibia, Short toe, Abnormal... |
OMIM:127300 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Clinodactyly, Hypoplasia of the ulna, Decreased body weight, Long philtrum, Everted lower lip ver... |
OMIM:615162 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Open bite, Abnormality of dental eruption, Microcephaly, Hallux valgus, Short toe, Mandibular pro... |
ORPHA:1327 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short philtrum, Progressive microcephaly, Small for gestational age, Rhizomelia, Sandal gap, Shor... |
OMIM:607143 |
Pycnodysostosis |
|
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Narrow chest, Lower limb asymmetry, ... |
ORPHA:763 |
Pycnodysostosis |
|
Brachydactyly, Prominent occiput, Wormian bones, Abnormality of pelvic girdle bone morphology, Na... |
OMIM:265800 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Prominent superficial veins, Upper l... |
ORPHA:75508 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... |
OMIM:608940 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Carious teeth, Convex nasal ridge, Broad hallux, Micrognathia, Microcephaly, Increas... |
OMIM:613684 |
Ovarian Dysgenesis 2 |
|
Primary amenorrhea, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus... |
OMIM:300510 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Vertebral hypoplasia, Narrow vertebral interpedicular distance, Micromelia, Dispropor... |
OMIM:602557 |
Tetraploidy |
|
Biparietal narrowing, Short philtrum, Intrauterine growth retardation, Radial club hand, Convex n... |
ORPHA:3305 |
Pelviscapular Dysplasia |
|
Brachydactyly, Abnormality of the joint spaces of the elbow, Congenital hip dislocation, Hypoplas... |
ORPHA:93333 |
Cleidocranial Dysplasia |
|
Absent paranasal sinuses, Micrognathia, High, narrow palate, Short middle phalanx of the 2nd fing... |
OMIM:119600 |
Alpha-Mannosidosis |
|
Bowing of the long bones, Hypoplastic inferior ilia, Kyphosis, Open bite, Craniofacial hyperostos... |
ORPHA:61 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... |
ORPHA:56304 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Hypoplasia of the odontoid process, Pec... |
OMIM:184255 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Abnormal hip bone morphology, Biparietal narrowing, Narrow mouth, Fin... |
ORPHA:1323 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Long philtrum, Micrognathia, Ulnar deviation of the hand or of fingers of the hand, Proximal hume... |
OMIM:602613 |
Seckel Syndrome 1 |
|
Pancytopenia, Talipes, Pes planus, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, ... |
OMIM:210600 |
Acromesomelic Dysplasia 2C |
|
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... |
OMIM:201250 |
Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Hypoplasia of the ulna, Intrauterine growth retardation, Fibular hypoplasia, Radial... |
ORPHA:1972 |
Osebold-Remondini Syndrome |
|
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... |
OMIM:112910 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Dolichocephaly, Ovoid vertebral... |
ORPHA:40 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short st... |
ORPHA:2019 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... |
ORPHA:2256 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short tibia, Short ... |
OMIM:612447 |
Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Abnormal clavic... |
ORPHA:1453 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Hypoplasia of the ulna, Dolichocephaly, Short femoral neck, Dislocated ... |
OMIM:618395 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Short metacarpal, Rhizomelia, Platyspondyly, Short humerus, Deformed humeral heads... |
OMIM:601438 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Short stature, S... |
ORPHA:1858 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Disproportionate short-trunk short stature, Distal ulnar hypoplasia, Scoliosis, Hallux valgus, Ma... |
OMIM:304950 |
Femoral-Facial Syndrome |
|
Long philtrum, Micrognathia, Abnormal rib morphology, Scoliosis, Thin upper lip vermilion, Hip dy... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Microdontia, Short uvula, Micromelia, Narrow chest, Cleft palate, Brachydactyly, Bowing of the lo... |
OMIM:614091 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Narrow mouth, High palate, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypopla... |
OMIM:602471 |
Metatropic Dysplasia |
|
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... |
OMIM:156530 |
Dystonia 31 |
|
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... |
OMIM:619565 |
Stuve-Wiedemann Syndrome 1 |
|
Talipes, Smooth tongue, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Dysphagia, Wide nasal... |
OMIM:601559 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Decreased skull ossification, Micrognathia, Microcephaly, Cleft palat... |
OMIM:616897 |
Langer Mesomelic Dysplasia |
|
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... |
OMIM:249700 |
Hall-Riggs Mental Retardation Syndrome |
|
Brachydactyly, Feeding difficulties in infancy, Kyphosis, Intrauterine growth retardation, Enamel... |
OMIM:234250 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Brachydactyly, Dolichocephaly, Short thorax, Cone-shaped epiphyses of the phalanges of the hand, ... |
OMIM:617102 |
Multiple Metaphyseal Dysplasia |
|
Brachydactyly, Depressed nasal ridge, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Microme... |
ORPHA:93430 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, High palate, Short philtrum, Delayed puberty, Sandal gap, Clinodactyly of the 5th... |
ORPHA:217340 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Talipes, Severe short stature, Hypoplasia of the radius, Elbow dislocatio... |
ORPHA:2249 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Long philtrum, Metaphyseal spurs, T... |
ORPHA:96334 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Asymmetry of the mo... |
OMIM:186500 |
Achondrogenesis Type 1A |
|
Short palm, Abnormal enchondral ossification, Long philtrum, Severe short stature, Short thorax, ... |
ORPHA:93299 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irreg... |
OMIM:601668 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Genu varum, Metaphyseal irregularity, Short ribs, Delayed pubic bone ossification, Enlarged epiph... |
OMIM:613330 |
Campomelic Dysplasia |
|
Narrow iliac wing, Absent sternal ossification, Long philtrum, Fibular hypoplasia, Pes planus, 11... |
OMIM:114290 |
Optic Atrophy 2 |
|
Babinski sign, Tremor, Dysdiadochokinesis |
OMIM:311050 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Coronal cleft vertebrae, Pes planus, Micrognathia, Disproportionate shor... |
OMIM:618363 |
Pseudoachondroplasia |
|
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... |
ORPHA:750 |
Muenke Syndrome |
|
Brachydactyly, Clinodactyly, Dental malocclusion, Plagiocephaly, Thimble-shaped middle phalanges ... |
OMIM:602849 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... |
ORPHA:174 |
Atelosteogenesis, Type Ii |
|
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... |
OMIM:256050 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Microcephaly, Short stature, Postaxial hand polydactyly, Short humerus, Aplasia/Hypop... |
ORPHA:2491 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea |
OMIM:618117 |
Cousin Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Disproportionate short stat... |
OMIM:260660 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemi... |
ORPHA:958 |
Acromicric Dysplasia |
|
Brachydactyly, Narrow mouth, Ovoid vertebral bodies, Short palm, Bulbous nose, Abnormality of epi... |
ORPHA:969 |
Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Severe short stature, Broad femora... |
ORPHA:239 |
Fibular Hemimelia |
|
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... |
ORPHA:93323 |
Image Syndrome |
|
Micromelia, Depressed nasal bridge, Hypogonadism, Metaphyseal dysplasia |
ORPHA:85173 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormal thumb morphology, Severe short stature, Cone-shaped epiphysis, Microcephaly, Scoliosis, ... |
ORPHA:2511 |
Mental Retardation, X-Linked 91 |
|
Clinodactyly, High palate, Short 5th finger, Obesity, Short nose, Cubitus valgus, Small hand, Mac... |
OMIM:300577 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Brachydactyly, Narrow mouth, Abnormality of pelvic girdle bone morphology, Abnormal form of the v... |
ORPHA:2370 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand, Depressed... |
OMIM:277150 |
Achondroplasia |
|
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Neonatal short-limb short stature, S... |
OMIM:100800 |
Lig4 Syndrome |
|
Pancytopenia, Biparietal narrowing, Leukocytosis, Clinodactyly of the 5th finger, Cutaneous photo... |
ORPHA:99812 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... |
OMIM:608571 |
Desbuquois Dysplasia 1 |
|
Genu varum, Long philtrum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Se... |
OMIM:251450 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Biparietal narrowing, High palate, Intrauterine growth retardation, Pes pla... |
ORPHA:251071 |
Mental Retardation, Buenos Aires Type |
|
Intrahepatic biliary atresia, Feeding difficulties in infancy, High palate, Cuboid-shaped thoraco... |
OMIM:249630 |
Cenani-Lenz Syndrome |
|
Short thumb, High, narrow palate, Abnormal rib morphology, Micromelia, Scoliosis, Short nose, Hip... |
ORPHA:3258 |
Van Den Ende-Gupta Syndrome |
|
Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, Distal ulnar hypoplasia, Hig... |
OMIM:600920 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... |
ORPHA:1240 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... |
OMIM:609324 |
Fibrochondrogenesis |
|
Brachydactyly, Plagiocephaly, Narrow mouth, Abnormal form of the vertebral bodies, Short ribs, Na... |
ORPHA:2021 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachydactyly, Biparietal narrowing, Symphalangism affecting the phalanges of the hand, Intrauter... |
ORPHA:1292 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... |
OMIM:144750 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad nasal tip, Irregular menstruation, Hypoplastic vertebral bodies, Broad palm, Narrow vertebr... |
OMIM:101800 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Narrow mouth, Clinodactyly, High palate, Short philtrum, Single transverse palmar crease, Fibular... |
OMIM:201170 |
Brachydactyly, Type A3 |
|
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... |
OMIM:112700 |
Brachydactyly, Type A1 |
|
Proportionate shortening of all digits, Absent distal interphalangeal creases, Clinodactyly of th... |
OMIM:112500 |
Mcdonough Syndrome |
|
Short philtrum, Abnormal palate morphology, Kyphosis, Underdeveloped nasal alae, Open bite, Crypt... |
ORPHA:2471 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Abdominal distention, Scoli... |
OMIM:619345 |
Cranioectodermal Dysplasia 1 |
|
Clinodactyly, Hepatic failure, Fibular hypoplasia, Radial deviation of finger, Everted lower lip ... |
OMIM:218330 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short philtrum, Short 5th metacarpal, Multiple small vertebral fractures, Convex nasal ridge, Pla... |
OMIM:156510 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... |
OMIM:607078 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Hypoplasia of the ulna, Long philtrum, Arrhythmia, Radial club hand, Aplasia/Hypoplasia of the th... |
ORPHA:2878 |
Visceral Myopathy 2 |
|
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... |
OMIM:619350 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Coxa valga, Wide nose, Talipes, Severe short stature, Clinodactyly of the... |
ORPHA:2557 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Fibular hypoplasia, Broad palm, Abnormal bone ossification, ... |
ORPHA:79106 |
Syndactyly Type 4 |
|
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... |
ORPHA:93405 |
Odontochondrodysplasia 1 |
|
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Osteopo... |
OMIM:184260 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Tapered finger, Microcephaly, Short finger, Acrocyanosis |
OMIM:302000 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Long nose, Long philtrum, Underdeveloped nasal alae, Narrow nose, Micrognathia, Small hand, Broad... |
OMIM:257850 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Brachydactyly, Clinodactyly, 2-5 finger cutaneous syndactyly, Symphalangism affecting the phalang... |
ORPHA:3246 |
Thiemann Disease, Familial Form |
|
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology |
ORPHA:3314 |
Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Single transverse palmar crease, Dolichocephaly, Intrauterine growth... |
OMIM:253250 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... |
OMIM:619135 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Protub... |
OMIM:151210 |
Acrootoocular Syndrome |
|
Small thenar eminence, Small hypothenar eminence, Sandal gap, Micrognathia, High, narrow palate, ... |
ORPHA:2980 |
Spondyloepiphyseal Dysplasia Congenita |
|
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, C... |
ORPHA:94068 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... |
OMIM:226900 |
Orofaciodigital Syndrome Type 6 |
|
Broad nasal tip, Foot polydactyly, Mesoaxial polydactyly, Micrognathia, Midline notch of upper al... |
ORPHA:2754 |
Craniosynostosis 3 |
|
Brachydactyly, Single transverse palmar crease, Right unicoronal synostosis, Left unicoronal syno... |
OMIM:615314 |
Microcephaly-Micromelia Syndrome |
|
Narrow mouth, Wide nose, Craniosynostosis, Intrauterine growth retardation, Absent radius, Oligod... |
OMIM:251230 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormality of pelvic girdle bone morphology, Abnormality of long bone morphology, Growth delay, ... |
OMIM:259270 |
Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Narrow chest, Exc... |
ORPHA:1860 |
Campomelic Dysplasia |
|
Bowing of the long bones, Hypoplastic inferior ilia, Kyphosis, Fibular hypoplasia, Poorly ossifie... |
ORPHA:140 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... |
ORPHA:2632 |
16Q24.3 Microdeletion Syndrome |
|
Biparietal narrowing, Dilated cardiomyopathy, High palate, Solitary median maxillary central inci... |
ORPHA:261250 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Metaphyseal chondrodysplasia, Gait disturbance, Babinski sign, Tremor |
OMIM:300660 |
Satoyoshi Syndrome |
|
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Amenorrhea, Abnorm... |
ORPHA:3130 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
Orofaciodigital Syndrome Viii |
|
Broad nasal tip, High palate, Polydactyly, Short stature, Short tibia, Bifid nasal tip, Cleft pal... |
OMIM:300484 |
Liebenberg Syndrome |
|
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... |
OMIM:186550 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Brachydactyly, Abnormal palate morphology, Convex nasal ridge, Micrognathia, Long thorax, Tooth a... |
ORPHA:1277 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Bilateral talipes equinovarus, Short middle phalanx of the 4th finger, Short middl... |
OMIM:615072 |
Pde4D Haploinsufficiency Syndrome |
|
Long philtrum, Pes planus, Cone-shaped epiphysis, Micrognathia, Short toe, Mandibular prognathia,... |
ORPHA:439822 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Brachydactyly, Flattened epiphysis, Broad nasal tip, Fibular hypoplasia, Dislocated radial head, ... |
ORPHA:166016 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormal hip bone morphology, Long philtrum, Clinodactyly of the 5th finger, Microdontia, Microgn... |
ORPHA:251028 |
Gombo Syndrome |
|
Brachydactyly, Clinodactyly, Microcephaly, Delayed puberty, Radial deviation of finger |
OMIM:233270 |
Atelosteogenesis, Type Iii |
|
Prominent occiput, Cervical kyphosis, Sandal gap, Micrognathia, Scoliosis, Cervical segmentation ... |
OMIM:108721 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Short stature, Primary amenorrhea |
OMIM:617690 |
Myotonia Congenita, Autosomal Recessive |
|
Muscle hypertrophy of the lower extremities, Myotonia, Percussion myotonia, Dysphagia, Skeletal m... |
OMIM:255700 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... |
OMIM:614561 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... |
ORPHA:63446 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... |
ORPHA:2779 |
Achondroplasia |
|
Hypoxemia, Hip joint hypermobility, Disproportionate short stature, Narrow greater sciatic notch,... |
ORPHA:15 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prominent occiput, Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Microcephaly, Dispropor... |
OMIM:210710 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic pubic bone, Short ribs, Protuberant abdomen, Metaphyseal cupping,... |
OMIM:614524 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the tongue, Micrognathia, Microcephaly, Abnormality of the humerus, Cleft palate, ... |
ORPHA:3098 |
Kyphomelic Dysplasia |
|
Micrognathia, Micromelia, Disproportionate short stature, Cleft palate, Cleft upper lip, Lateral ... |
OMIM:211350 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Large for gestational age, High palate, Hypoplasia of the ulna, Osteopenia, Long philtrum, Abnorm... |
OMIM:615398 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... |
ORPHA:2501 |
Spinal Muscular Atrophy, Jokela Type |
|
Hammertoe, Fasciculations, Elevated circulating creatine kinase concentration, Difficulty walking... |
OMIM:615048 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Microcephaly, Short stature, Hallux valgus, Kyphoscoliosis, Dental malocclusion, Prominent nose |
OMIM:615541 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Broad palm, Hamartoma of tongue, Short toe, Median cleft lip and palate, Macroce... |
OMIM:269860 |
Melnick-Needles Syndrome |
|
Pes planus, Micrognathia, Anterior concavity of thoracic vertebrae, Narrow chest, Genu valgum, Cl... |
OMIM:309350 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Microcephaly, Hypoplastic iliac wing,... |
OMIM:609945 |
Trichorhinophalangeal Syndrome, Type I |
|
Long philtrum, Pes planus, Microdontia, Micrognathia, Pear-shaped nose, Scoliosis, Thin upper lip... |
OMIM:190350 |
Anauxetic Dysplasia 1 |
|
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Hypodontia, Platyspondyly, Flare... |
OMIM:607095 |
Lathosterolosis |
|
Hepatic failure, Talipes, Long philtrum, Micrognathia, Microcephaly, Intrahepatic cholestasis, An... |
ORPHA:46059 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Poor suck, Abnormal ilium morphology, Severe short stature, Disproportionate short-trunk short st... |
ORPHA:93316 |
Camptomelic Syndrome, Long-Limb Type |
|
Micromelia, Bowing of the long bones |
OMIM:211990 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Flared iliac wing, Medial widening of clavicles, Flared humeral m... |
OMIM:183849 |
Tetrasomy X |
|
Brachydactyly, Abnormality of the dentition, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:9 |
Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips, Microcephaly, Clinodac... |
OMIM:211369 |
Atelosteogenesis Type I |
|
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... |
ORPHA:1190 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Biparietal narrowing, Long philtrum, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, M... |
ORPHA:228396 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Growth... |
ORPHA:52056 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Narrow palate, Finger syndactyly, Delayed eruption of teeth, Short metacarpal, Sanda... |
OMIM:264475 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Anterior rib cupping, Pes planus... |
OMIM:184250 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Frontal bossing, Diaphyseal thickening, Abnormal rib morphology |
ORPHA:1513 |
Cornelia De Lange Syndrome 2 |
|
Clinodactyly, Micrognathia, Microcephaly, Small hand, Thin upper lip vermilion, Brachydactyly, Hi... |
OMIM:300590 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Amelogenesis imperfecta, Prominent deltoid tuberosities, Short femoral neck, Rhizomelia, Short ri... |
OMIM:610319 |
Congenital Radioulnar Synostosis |
|
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... |
ORPHA:3269 |
Greenberg Dysplasia |
|
Talipes, Hypoplastic vertebral bodies, 11 pairs of ribs, Broad palm, Pancreatic islet-cell hyperp... |
OMIM:215140 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Biparietal narrowing, Non-midline cleft lip, Abnormality of the philtrum, Short st... |
ORPHA:1770 |
Ring Chromosome Y Syndrome |
|
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:261529 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... |
OMIM:617565 |
Acromesomelic Dysplasia, Grebe Type |
|
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... |
ORPHA:2098 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Gastroparesis, Abdominal dist... |
ORPHA:1876 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Lateral clavicle hook... |
ORPHA:1801 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Neonatal short-limb short stature, Hypoplasia of the radius, Pseudoarthrosis, Mesomelic short sta... |
OMIM:156230 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... |
ORPHA:2634 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... |
OMIM:617719 |
Acromesomelic Dysplasia 3 |
|
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... |
OMIM:609441 |
Monosomy 18Q |
|
Slender build, Pes planus, Left-to-right shunt, Tapered finger, Microcephaly, Mandibular prognath... |
ORPHA:1600 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Depressed nasal ridge, Open bite, Aplasia/Hypoplasia of the distal phalanges ... |
ORPHA:1248 |
Holt-Oram Syndrome |
|
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... |
OMIM:142900 |
Non-Distal Monosomy 10Q |
|
Brachydactyly, Biparietal narrowing, Clinodactyly of the 5th finger, Overlapping fingers, Wide na... |
ORPHA:1581 |
Anauxetic Dysplasia 2 |
|
Brachydactyly, Coxa valga, Ovoid vertebral bodies, Hypoplasia of the femoral head, Short femoral ... |
OMIM:617396 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
Greenberg Dysplasia |
|
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Abnormal ... |
ORPHA:1426 |
Dysostosis, Stanescu Type |
|
Macroglossia, Micromelia, Microcephaly, Scoliosis, Hypoplasia of the zygomatic bone, Massively th... |
ORPHA:1798 |
Toluene Embryopathy |
|
Biparietal narrowing, Tapered finger, Micrognathia, Microcephaly, Short stature, Smooth philtrum,... |
ORPHA:1920 |
Pallister W Syndrome |
|
Clinodactyly, Broad nasal tip, Hypoplasia of the ulna, Broad uvula, Pes planus, Agenesis of centr... |
OMIM:311450 |
Momo Syndrome |
|
Long foot, Long philtrum, Abnormal bone ossification, Macrocephaly, Wide nasal base, Large hands,... |
ORPHA:2563 |
Cono-Spondylar Dysplasia |
|
Brachydactyly, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Midface retrusion, F... |
ORPHA:420794 |
Cranioectodermal Dysplasia |
|
Prominent occiput, Clinodactyly of the 5th finger, Everted lower lip vermilion, Osteoporosis, Mic... |
ORPHA:1515 |
Sugarman Brachydactyly |
|
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... |
OMIM:272150 |
Codas Syndrome |
|
Pes valgus, Coronal cleft vertebrae, Delayed ossification of carpal bones, Squared iliac bones, S... |
OMIM:600373 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal thumb morphology, Abnormality of the ulna, Ap... |
ORPHA:2639 |
Orofaciodigital Syndrome Type 10 |
|
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... |
ORPHA:2756 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Sandwich appearance of vertebral bodies, Increased susceptibility to fractur... |
ORPHA:210110 |
Long-Thumb Brachydactyly Syndrome |
|
Brachydactyly, Arrhythmia, Short finger, Long thumb |
OMIM:112430 |
Roifman Syndrome |
|
Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Microcephaly, Short toe... |
ORPHA:353298 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short neck, Abnormal vertebral morphology, Micrognathia, Short stature, Thin upper lip vermilion,... |
ORPHA:2015 |
Opsismodysplasia |
|
Long philtrum, Hypoplastic vertebral bodies, Squared iliac bones, Scoliosis, Macrocephaly, Narrow... |
OMIM:258480 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Short distal phalanx of finger, Short stature, Broad thumb, Camptodactyly o... |
ORPHA:1471 |
Heart-Hand Syndrome Type 2 |
|
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Arrhyth... |
ORPHA:1350 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Primary amenorrhea, Talipes, Constipation, Abnormality of the hand, High, narrow pa... |
ORPHA:95699 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Osteopenia, Intrauterine growth retardation, Short femo... |
OMIM:608154 |
Mosaic Trisomy 9 |
|
Prominent occiput, Micrognathia, Micromelia, Microcephaly, Scoliosis, Hemivertebrae, Cleft palate... |
ORPHA:99776 |
Schneckenbecken Dysplasia |
|
Disproportionate short-limb short stature, Advanced tarsal ossification, Hypoplastic vertebral bo... |
ORPHA:3144 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Underdeveloped nasal alae, Pes planus, Clinodactyly of the 5th finger, Tapered finger, Widely spa... |
OMIM:619293 |
Osteolysis Syndrome, Recessive |
|
Broad nasal tip, Osteolytic defects of the middle phalanges of the hand, Abnormal foot morphology... |
OMIM:259610 |
Vitamin D-Dependent Rickets, Type 2A |
|
Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, Enlargement o... |
OMIM:277440 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... |
ORPHA:1802 |
Astley-Kendall Dysplasia |
|
Micromelia |
ORPHA:85175 |
Achondrogenesis, Type Ib |
|
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Short ribs, Mic... |
OMIM:600972 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral junction, Enlargement o... |
OMIM:264700 |
Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Type A brachydactyly, Congenital talipes calcaneovalgus, Short middle pha... |
OMIM:112800 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Kyphosis, Short femoral neck, Disproportionate short-trunk short stature, Sclerotic f... |
OMIM:271530 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... |
OMIM:613091 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... |
OMIM:612310 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Mesomelic ... |
OMIM:609616 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Everted lower lip ve... |
OMIM:617877 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Shoulder dislocation, Coronal cleft vertebrae, Long philtrum, Pes planus, Widely spaced teeth, Na... |
OMIM:143095 |
Alagille Syndrome |
|
Long nose, Cholestasis, Clinodactyly of the 5th finger, Micrognathia, Abnormal rib morphology, Re... |
ORPHA:52 |
Primary Condylar Hyperplasia |
|
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Frontal bossing, Abnormality of pelvic girdle bone morphology, Abnormal rib mo... |
ORPHA:1506 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the ulna, Long philtrum, Failure to thrive in infancy, Scoliosis, Hypoplasia of th... |
ORPHA:1340 |
Rothmund-Thomson Syndrome |
|
Infertility, Abnormal trabecular bone morphology, Microdontia, Short thumb, Telangiectasia of the... |
ORPHA:2909 |
Hypochondroplasia |
|
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... |
ORPHA:429 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... |
OMIM:612964 |
Pierpont Syndrome |
|
Broad nasal tip, Cryptorchidism, Broad palm, Everted lower lip vermilion, Widely spaced teeth, Sc... |
OMIM:602342 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... |
ORPHA:2141 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Bowing of the long bones, Osteopenia, Increased bone mineral density, Kyphosis, Lateral femoral b... |
OMIM:239000 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Short stature, Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Odontochondrodysplasia |
|
Bowing of the long bones, Coxa valga, Square pelvis bone, Short palm, Delayed eruption of teeth, ... |
ORPHA:166272 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Dislocated radial head, Abnormal foot morphology, Abn... |
OMIM:605274 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... |
OMIM:619665 |
Distal Trisomy 5Q |
|
Brachydactyly, Absent thumb, Narrow mouth, Hypoplasia of the ulna, Craniosynostosis, Long philtru... |
ORPHA:96097 |
Familial Digital Arthropathy-Brachydactyly |
|
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... |
ORPHA:85169 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Microretrognathia, Short nose |
OMIM:218010 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... |
OMIM:618728 |
Roifman Syndrome |
|
Long philtrum, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Narrow nose, Microcepha... |
OMIM:616651 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, Generalized osteoporosis, Bifid uvula, Prematurely aged appearance, Progeroid ... |
ORPHA:2959 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, EMG: myotonic runs, Handgrip myotonia... |
OMIM:160800 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Genu varum, Coronal cleft vertebrae, Abnormal ilium morphology, Short greater sciatic notch, Seve... |
ORPHA:93314 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... |
ORPHA:457395 |
Florid Cemento-Osseous Dysplasia |
|
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... |
ORPHA:83451 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Broad nasal tip, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single tra... |
ORPHA:370010 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Abnormality of the vertebral column, Anosmia, Epiphyseal stippling, Short distal phalanx of finge... |
OMIM:302950 |
Hall-Riggs Syndrome |
|
Brachydactyly, Delayed eruption of teeth, Abnormality of epiphysis morphology, Wide nasal bridge,... |
ORPHA:2107 |
Amelogenesis Imperfecta |
|
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... |
ORPHA:88661 |
Oligodontia |
|
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... |
ORPHA:99798 |
3Q29 Microduplication Syndrome |
|
Biparietal narrowing, Toe syndactyly, High palate, Craniosynostosis, Abnormality of the dentition... |
ORPHA:251038 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Absent vertebral body mineralization, Short ribs, Abnormal foot morphology, Disp... |
OMIM:200610 |
Ivic Syndrome |
|
Small thenar eminence, Carpal synostosis, Short thumb, Scoliosis, Short 1st metacarpal, Hypoplasi... |
OMIM:147750 |
Isotretinoin Syndrome |
|
Biparietal narrowing, Micrognathia, Depressed nasal bridge, Spina bifida occulta, Cleft palate |
ORPHA:2305 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly |
OMIM:228940 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Depressed nasal ridge, Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly |
OMIM:601016 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Brachydactyly, Lateral clavicle hook, Polydactyly, Short stature, Narrow chest |
OMIM:617405 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... |
ORPHA:432 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Micrognathia, Micromelia, Abnormality of the radius, Depressed nasal bridge, Abnormal... |
ORPHA:93329 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... |
ORPHA:93352 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Bidirectio... |
OMIM:170390 |
Peho Syndrome |
|
Biparietal narrowing, Abnormal palate morphology, Open mouth, Tapered finger, Feeding difficultie... |
ORPHA:2836 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Absent ossification of capital femoral epiphysis, Large for gestational age, Feeding difficulties... |
ORPHA:226313 |
Larsen-Like Syndrome |
|
Absent nasal bridge, Dental malocclusion, Bipartite calcaneus, Clinodactyly of the 5th finger, Ky... |
OMIM:608545 |
Ruvalcaba Syndrome |
|
Short palm, Underdeveloped nasal alae, Short metacarpal, Narrow nose, Short phalanx of finger, Mi... |
OMIM:180870 |
Mcdonough Syndrome |
|
Clinodactyly, Short philtrum, Single transverse palmar crease, Micrognathia, Pulmonic stenosis, P... |
OMIM:248950 |
Intellectual Disability And Myopathy Syndrome |
|
Left ventricular systolic dysfunction, Broad nasal tip, Achilles tendon contracture, Cutis marmor... |
OMIM:619719 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, Percussion myotonia, Dy... |
ORPHA:34516 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Ovoid vertebral bodies,... |
OMIM:132400 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Kyphosis, Externally rotated hips, Hypoplastic scapulae, Macroglossia, Micromelia, Sho... |
ORPHA:79107 |
Crane-Heise Syndrome |
|
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Aplastic clavicle, Hypoplasti... |
ORPHA:1512 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Short palm, Coxa vara |
ORPHA:168555 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Short stature, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:614129 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... |
ORPHA:168563 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Acrorenal-Mandibular Syndrome |
|
Missing ribs, Foot polydactyly, Micrognathia, Narrow chest, Hemivertebrae, Hip dislocation, High ... |
OMIM:200980 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor |
OMIM:158580 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... |
ORPHA:166002 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... |
OMIM:204700 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Convex nasal ridge, Oral cleft, Microcephaly, Lower limb undergrowth, Forearm u... |
OMIM:218650 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... |
OMIM:191440 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... |
OMIM:606835 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia,... |
OMIM:190351 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Small for gestational age, Abnormal thorax morphology, Polydactyly,... |
ORPHA:294975 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly |
OMIM:314360 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Narrow chest... |
OMIM:611263 |
Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth |
OMIM:119540 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... |
ORPHA:93356 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, High palate, Abnormal form of the vertebral bodies, Bulbous nose, Sandal gap, Obes... |
ORPHA:2180 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Feeding difficulties in infancy, Short philtrum, Intrauterine growth retardation, ... |
OMIM:614257 |
Jeune Syndrome |
|
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... |
ORPHA:474 |
Microphthalmia With Limb Anomalies |
|
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... |
ORPHA:1106 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... |
ORPHA:93307 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... |
ORPHA:3268 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux |
OMIM:113200 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... |
OMIM:615300 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Long philtrum, Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachy... |
OMIM:611717 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic platyspondyly, Metaphyseal spurs, Pedal edema, Arthralgia of the hip, Genu valgum, Hip d... |
ORPHA:166011 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Brachydactyly, Long philtrum, Protuberant abdomen, Narrow chest, Widely spaced teeth, Wide nasal ... |
OMIM:619479 |
Cohen Syndrome |
|
Pes planus, Tapered finger, Micrognathia, High, narrow palate, Microcephaly, Genu valgum, Thoraci... |
OMIM:216550 |
Aminopterin Syndrome Sine Aminopterin |
|
Brachydactyly, Clinodactyly, Thoracic scoliosis, Decreased body weight, High palate, Intrauterine... |
OMIM:600325 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Long foot, Increased density of long bone diaphyses, Scoliosis, Scapular ... |
OMIM:305620 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Cone-shaped epiphys... |
ORPHA:3237 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Coxa valga, Osteopenia, ... |
ORPHA:356961 |
Smith-Lemli-Opitz Syndrome |
|
Long philtrum, Micrognathia, Abnormal rib morphology, Microcephaly, Scoliosis, Cleft palate, Hip ... |
ORPHA:818 |
Lethal Kniest-Like Dysplasia |
|
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Hypoplastic vertebral bodies, Short... |
ORPHA:2347 |
Diastrophic Dysplasia |
|
Micrognathia, Abnormal rib morphology, Micromelia, Scoliosis, Macrocephaly, Hip dysplasia, Cleft ... |
ORPHA:628 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the ulna, Bone marrow hypocellularity, Hypoplasia of the radius, Radi... |
OMIM:614900 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... |
OMIM:268305 |
Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Narrow palate, Thick upper lip vermilion, Microcephaly, Anemia, Failure to thrive, ... |
OMIM:617883 |
Summitt Syndrome |
|
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Depressed nasal ri... |
ORPHA:3210 |
Acromicric Dysplasia |
|
Narrow mouth, Ovoid vertebral bodies, Short palm, Bulbous nose, Long philtrum, Short metacarpal, ... |
OMIM:102370 |
Harrod Syndrome |
|
Narrow mouth, Long nose, High palate, Abnormality of pelvic girdle bone morphology, Kyphosis, Int... |
ORPHA:2115 |
Opsismodysplasia |
|
Hypoplastic vertebral bodies, Severe short stature, Tapered finger, Squared iliac bones, Narrow c... |
ORPHA:2746 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal perforation, Intermittent diarrhea, Constipation, Gastrointestinal dysmotility, Ragged... |
OMIM:603041 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Broad nasal tip, Cone-shaped capital femoral epiphysis, Broad palm, Metaphyseal widening, Brachyd... |
OMIM:300232 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Microcephaly, Short stature, Scoliosis, Slender long bone, Dental malocclusion, T... |
OMIM:616202 |
Seckel Syndrome 7 |
|
Clinodactyly, Primary amenorrhea, Intrauterine growth retardation, Central hypothyroidism, Severe... |
OMIM:614851 |
Brachydactyly, Type A1, B |
|
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... |
OMIM:607004 |
Anauxetic Dysplasia 3 |
|
Severe short stature, Squared iliac bones, Retrognathia, Narrow chest, Genu valgum, Brachydactyly... |
OMIM:618853 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Bone Dysplasia, Lethal Holmgren Type |
|
Abnormal thumb morphology, Talipes, Micromelia, Anemia, Narrow chest, Diarrhea, Abnormality of ep... |
ORPHA:1842 |
Hallermann-Streiff Syndrome |
|
Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, Micrognathia, High, narrow p... |
OMIM:234100 |
Dystonia, Juvenile-Onset |
|
Achalasia, Cleft upper lip, Small for gestational age, Externally rotated hips, Hypoplastic scapu... |
OMIM:607371 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... |
ORPHA:363417 |
Nicolaides-Baraitser Syndrome |
|
Long philtrum, Sandal gap, Everted lower lip vermilion, Widely spaced teeth, Microcephaly, Scolio... |
OMIM:601358 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Abnormal thorax morphology, Anemia, Broad clavicles, Thrombocytopenia,... |
ORPHA:508542 |
Martsolf Syndrome 1 |
|
Broad nasal tip, Cardiac arrest, Broad fingertip, Micrognathia, Microcephaly, Short toe, Tooth ma... |
OMIM:212720 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Abnormality of the dentition |
OMIM:300604 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly, Dolichocephaly, Wide nasal bridge, Relative macrocephaly, Mandibular prognathia, M... |
OMIM:617169 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Clinodactyly, High palate, Shortening of all distal phalanges of the fingers, Anteverted nares, 2... |
OMIM:616809 |
Cri-Du-Chat Syndrome |
|
Bifid uvula, Pes planus, Microcephaly, Scoliosis, High palate, Single transverse palmar crease, S... |
OMIM:123450 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perfora... |
OMIM:277320 |
Fetal Alcohol Syndrome |
|
Biparietal narrowing, Intrauterine growth retardation, Non-midline cleft lip, Microdontia, Microg... |
ORPHA:1915 |
Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Maxillary lateral incisor microdontia, Short stature, Macroorchidism... |
ORPHA:1193 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Premature ovarian ... |
ORPHA:2928 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Brachydactyly, Intrauterine growth retardation, Small for gestational age, Wide nasal bridge, Mic... |
OMIM:612626 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... |
OMIM:614837 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pectus excavatum |
OMIM:607278 |
Short Syndrome |
|
Clinodactyly, Delayed eruption of teeth, Underdeveloped nasal alae, Small for gestational age, In... |
OMIM:269880 |
Müllerian Aplasia And Hyperandrogenism |
|
Brachydactyly, Short philtrum, Primary amenorrhea, Abnormality of the ovary, Increased serum test... |
ORPHA:247768 |
Hamamy Syndrome |
|
Microcytic anemia, Clinodactyly, Long philtrum, Tapered finger, Micrognathia, Dysphagia, Mitral r... |
OMIM:611174 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Brachydactyly, Narrow mouth, Coronal craniosynostosis, Short metacarpal, Wide nasal bridge, Micro... |
OMIM:614078 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Decreased body weight, Delayed ossification of carpal bones, Kyphosis, Small for g... |
OMIM:618392 |
Premature Ovarian Failure 18 |
|
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... |
OMIM:619203 |
Turnpenny-Fry Syndrome |
|
Clinodactyly, Tapered finger, Widely spaced teeth, Microdontia, Pes cavus, Microcephaly, Small ha... |
OMIM:618371 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Foot polydactyly, Fibular hypoplasia, Bile duct proliferation, Hypoplastic iliac... |
OMIM:208500 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... |
OMIM:614841 |
Atkin-Flaitz Syndrome |
|
Exaggerated median tongue furrow, Short palm, Tapered finger, Thick lower lip vermilion, Maxillar... |
OMIM:300431 |
Keipert Syndrome |
|
Brachydactyly, Clinodactyly, Thick upper lip vermilion, Broad hallux, Exaggerated cupid's bow, Mi... |
OMIM:301026 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disproportionate s... |
ORPHA:99642 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Squared iliac bones, Micromelia, Hypertension, Narrow chest, Severe platyspondyly, Short nose, Sm... |
OMIM:613320 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Accessory oral frenulum, Short philtrum, Cervical ribs, Single transverse palmar c... |
OMIM:617927 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... |
OMIM:601957 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Biparietal narrowing, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Short stature, C... |
ORPHA:2031 |
Orofaciodigital Syndrome Ix |
|
Accessory oral frenulum, Toe syndactyly, Broad nasal tip, High palate, Hand polydactyly, Microcep... |
OMIM:258865 |
Joubert Syndrome |
|
Biparietal narrowing, Feeding difficulties in infancy, Foot polydactyly, Abnormal form of the ver... |
ORPHA:475 |
W Syndrome |
|
Clinodactyly, Broad nasal tip, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Pes planus, El... |
ORPHA:2804 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Cryptorchidism, Cone-shaped epi... |
OMIM:614613 |
Auriculocondylar Syndrome 2 |
|
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... |
OMIM:614669 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Coronal cleft vertebrae, Long philtrum, Pes planus, Micromelia, Scoliosis, Macrocephaly, Scapular... |
OMIM:618870 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... |
OMIM:609325 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Brachydactyly, Pectus excavatum, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Mas... |
OMIM:122900 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly |
OMIM:212780 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the clavicles, Micrognathia, Aplasia/Hypoplasia of the ribs, Cleft palate, ... |
ORPHA:2839 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Square... |
OMIM:618961 |
Craniofrontonasal Dysplasia |
|
Sandal gap, Clinodactyly of the 5th finger, Microcephaly, Scoliosis, Midline defect of the nose, ... |
ORPHA:1520 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology |
ORPHA:1078 |
Spinocerebellar Ataxia Type 15/16 |
|
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... |
ORPHA:98769 |
Otospondylomegaepiphyseal Dysplasia |
|
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... |
ORPHA:1427 |
Sclerosteosis 1 |
|
Abnormality of pelvic girdle bone morphology, Deviation of finger, Wide nasal bridge, Cortically ... |
OMIM:269500 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Cleft upper lip, Azoospermia, Micrognathia, Short stature, Bicornuate uterus, Hypoplasia of the u... |
OMIM:601076 |
Ulnar Hypoplasia-Split Foot Syndrome |
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Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius |
ORPHA:1122 |
Taurodontism, Microdontia, And Dens Invaginatus |
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Dens in dente, Microdontia, Taurodontia, Pulp calcification |
OMIM:313490 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Wide nasal bridge,... |
ORPHA:1278 |
Non-Syndromic Bicoronal Craniosynostosis |
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Brachydactyly, Metacarpal synostosis, Brachycephaly, Midface retrusion |
ORPHA:35099 |
Macrocephaly/Autism Syndrome |
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Biparietal narrowing, Long philtrum, Obesity, Splenomegaly, Hepatomegaly, Frontal bossing, Depres... |
OMIM:605309 |
Van Maldergem Syndrome 2 |
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Clinodactyly, Tented upper lip vermilion, Micrognathia, Scoliosis, Narrow chest, High palate, Abn... |
OMIM:615546 |
Dens Evaginatus |
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Abnormality of the dentition, Talon cusp |
OMIM:125280 |
Dens In Dente And Palatal Invaginations |
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Dens in dente, Abnormality of the dentition |
OMIM:125300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Horizontal ribs, Decreased calvarial ossification, Fibular hypoplasia, Micrognathia, Hamartoma of... |
OMIM:617925 |
Osteogenesis Imperfecta |
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Prominent occiput, Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, ... |
ORPHA:666 |
Jackson-Weiss Syndrome |
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Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... |
ORPHA:1540 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Short palm, Tapered finger, Thick lower lip vermilion, Maxillar... |
OMIM:300602 |
Mesomelic Dysplasia, Kantaputra Type |
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Synostosis of carpal bones, Talipes, Clinodactyly of the 5th finger, Abnormality of fibula morpho... |
ORPHA:1836 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Minimal subcutaneous fat, Pes planus, Micrognathia, Microcephaly, Scoliosis, Metaphyseal widening... |
OMIM:182212 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
Orofaciodigital Syndrome Iv |
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Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... |
OMIM:258860 |
20P12.3 Microdeletion Syndrome |
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Narrow mouth, Long philtrum, Wolff-Parkinson-White syndrome, Wide nasal bridge, Hypoplasia of the... |
ORPHA:261295 |
Postaxial Acrofacial Dysostosis |
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Hypoplasia of the ulna, Cleft upper lip, Conical tooth, Abnormal foot morphology, Supernumerary v... |
OMIM:263750 |
Amelogenesis Imperfecta, Type Iiia |
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Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Genu varum, Rachitic rosary, Osteomalacia, Rickets, Enlargement of the wrists, Enamel hypoplasia,... |
ORPHA:289157 |
Joubert Syndrome With Ocular Defect |
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Biparietal narrowing, Foot polydactyly, Feeding difficulties, Hand polydactyly, Abnormal vertebra... |
ORPHA:220493 |
Paramyotonia Congenita Of Von Eulenburg |
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Paradoxical myotonia, Feeding difficulties, Skeletal muscle hypertrophy, Percussion myotonia, Han... |
OMIM:168300 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
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Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Osteopenia, Intrauterine gro... |
OMIM:211920 |
Potocki-Lupski Syndrome |
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Feeding difficulties in infancy, Trigonocephaly, High palate, Small for gestational age, Gastroes... |
OMIM:610883 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Pes planus, Short me... |
ORPHA:93351 |
Omodysplasia 1 |
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Long philtrum, Fibular hypoplasia, Cryptorchidism, Increased fibular diameter, Micrognathia, Limi... |
OMIM:258315 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... |
ORPHA:2631 |
Van Maldergem Syndrome 1 |
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Clinodactyly, Tented upper lip vermilion, Micrognathia, Scoliosis, Narrow chest, High palate, Abn... |
OMIM:601390 |
Satoyoshi Syndrome |
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Brachydactyly, Amenorrhea, Short metacarpal, Osteolytic defects of the phalanges of the hand, Sho... |
OMIM:600705 |
Grant Syndrome |
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Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormal p... |
ORPHA:2097 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Brachydactyly, Wormian bones, Osteoporosis, Microcephaly, Short distal phalanx of finger, Frontal... |
ORPHA:2787 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
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Babinski sign, Spasticity, Ataxia, Tremor |
OMIM:611105 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Brachydactyly, Broad columella, Underdeveloped nasal alae, Micrognathia, Short stature, Malar fla... |
ORPHA:436245 |
Pseudoachondroplasia |
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Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... |
OMIM:177170 |
Ulna And Fibula, Hypoplasia Of |
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Neonatal short-limb short stature, Disproportionate short-limb short stature, Hypoplasia of the u... |
OMIM:191400 |
Trochlea Of The Humerus, Aplasia Of |
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