Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Atelosteogenesis, Type Iii |
|
Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Tibial bowing, Knee dislo... |
OMIM:108721 |
Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narr... |
OMIM:108720 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi... |
ORPHA:3348 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Achondroplasia |
|
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... |
OMIM:100800 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Polyhydramnios, Narrow chest, Severe limb shortening, Radial bowing, Rhiz... |
OMIM:151210 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... |
OMIM:171480 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bod... |
ORPHA:1856 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ... |
OMIM:164745 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Absent forearm, Posteriorly rotated ears, Overlapping toe, Single transverse pa... |
OMIM:201170 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Protruding ear, E... |
ORPHA:2616 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... |
OMIM:154780 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Micrognathia, Multiple prenatal fractures, Beaded ribs, Short neck, F... |
OMIM:616897 |
Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag... |
OMIM:210600 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con... |
OMIM:602471 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
Femoral-Facial Syndrome |
|
Micrognathia, Orofacial cleft, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of th... |
ORPHA:1988 |
Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Midface retrusion, Micromelia, Short 4th metacarpal, Epiphyseal stippling, Short long bone, Coron... |
OMIM:118651 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca... |
ORPHA:958 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, Ab... |
ORPHA:950 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Intestinal malrotation, C... |
ORPHA:3035 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... |
ORPHA:100984 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Thickened calvaria, Pers... |
OMIM:265900 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Tracheal atresia |
ORPHA:3346 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Polyhydramnios, Narrow chest, Short phal... |
ORPHA:56304 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat... |
OMIM:617866 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Flexio... |
OMIM:222765 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia |
ORPHA:228169 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... |
ORPHA:79106 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Short neck, Simplified gyral pattern, Narrow chest, Neonatal death, Sho... |
OMIM:251230 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... |
OMIM:268305 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... |
ORPHA:3258 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Schneckenbecken Dysplasia |
|
Micromelia, Short neck, Lateral clavicle hook, Polyhydramnios, Lymphedema, Abnormal form of the v... |
ORPHA:3144 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia |
ORPHA:210571 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Atelosteogenesis Type I |
|
Joint dislocation, Polyhydramnios, Micrognathia, Narrow chest, Absent or minimally ossified verte... |
ORPHA:1190 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow disloc... |
ORPHA:2804 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl... |
OMIM:619135 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology |
ORPHA:2703 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... |
ORPHA:2563 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Post... |
OMIM:258850 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance |
OMIM:609161 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg... |
ORPHA:440354 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... |
ORPHA:2831 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:123155 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo... |
OMIM:612447 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Brachycephaly, Long thorax... |
OMIM:617925 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... |
OMIM:252100 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac... |
OMIM:300373 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance |
OMIM:600116 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Brachycepha... |
OMIM:618371 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Abnor... |
ORPHA:3268 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Hydrops fet... |
ORPHA:2879 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation... |
OMIM:128230 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... |
OMIM:311900 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Tracheal atresia |
OMIM:601612 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... |
ORPHA:1452 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co... |
OMIM:613091 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... |
OMIM:200980 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Dolichocephaly, Short neck, Mul... |
OMIM:618395 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Narrow chest, ... |
ORPHA:163649 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy |
ORPHA:98766 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Microtia, Everted l... |
ORPHA:357175 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Flat occiput, Micrognathia, Downturned corners ... |
OMIM:615162 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... |
OMIM:156510 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... |
OMIM:157980 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m... |
OMIM:277150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Falls,... |
OMIM:300423 |
Diastrophic Dysplasia |
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Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th... |
ORPHA:628 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
Cousin Syndrome |
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Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Parkinson Disease 19A, Juvenile-Onset |
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Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Odontochondrodysplasia 1 |
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Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... |
OMIM:184260 |
Alopecia Areata 1 |
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Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Clark-Baraitser syndrome |
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Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Tapered finger,... |
OMIM:300602 |
Spastic Paraplegia 78, Autosomal Recessive |
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Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Acromesomelic Dysplasia 1 |
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Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Spinocerebellar Ataxia Type 20 |
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Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Cerebrocostomandibular Syndrome |
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Congenital hip dislocation, Polyhydramnios, Micrognathia, Porencephalic cyst, Anteriorly placed a... |
OMIM:117650 |
Orofaciodigital Syndrome Type 10 |
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Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Polyhydramnios, Aplasia/Hypoplasia of... |
ORPHA:2256 |
Autosomal Dominant Omodysplasia |
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Short humerus, Frontal bossing, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation... |
ORPHA:93328 |
Thanatophoric Dysplasia Type 1 |
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Micromelia, Polyhydramnios, Femoral bowing, Narrow chest, Cloverleaf skull, Abnormal sacroiliac j... |
ORPHA:1860 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Microcephaly, Coxa ... |
OMIM:616716 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Greenberg Dysplasia |
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Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Lymphedema, Calvarial skull ... |
ORPHA:1426 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos... |
ORPHA:93267 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
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Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Osteogenesis Imperfecta, Type Xii |
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Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Pyknoachondrogenesis |
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Stillbirth |
OMIM:265880 |
Schneckenbecken Dysplasia |
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Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Kinsship Syndrome |
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Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... |
OMIM:619297 |
Cleidocranial Dysplasia 2 |
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Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavi... |
OMIM:620099 |
Postaxial Acrofacial Dysostosis |
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Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Brachydactyly Type A1 |
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Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Abnormality of the epiphysis of the femoral head, Polyhydramnios, Micrognathia, Coxa vara, Narrow... |
ORPHA:93316 |
Marshall-Smith Syndrome |
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Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m... |
OMIM:602535 |
Dandy-Walker Syndrome |
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Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... |
OMIM:220200 |
Spinocerebellar Ataxia 41 |
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Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:616410 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Death in infancy, Micromeli... |
ORPHA:166272 |
Endosteal Hyperostosis, Worth Type |
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Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Parkinson Disease 22, Autosomal Dominant |
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Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Nphp3-Related Meckel-Like Syndrome |
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Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Spastic Paraplegia 80, Autosomal Dominant |
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Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Gait disturb... |
OMIM:618418 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
Chudley-Mccullough Syndrome |
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Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia |
OMIM:604213 |
Dystonia 16 |
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Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait... |
OMIM:612067 |
Ichthyosis-Hypotrichosis Syndrome |
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Sparse hair |
ORPHA:91132 |
Parkinson Disease 17 |
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Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Tricho-Dento-Osseous Syndrome |
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Frontal bossing, Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, En... |
ORPHA:3352 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Frontal bossing, Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis,... |
OMIM:311895 |
Orofaciodigital Syndrome Iv |
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Toe syndactyly, Hamartoma of tongue, Micrognathia, Pectus excavatum, Postaxial polydactyly, Acces... |
OMIM:258860 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Osteogenesis Imperfecta, Type Xix |
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Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Pec... |
OMIM:301014 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Boomerang Dysplasia |
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Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed... |
OMIM:616583 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Ectodermal Dysplasia 6, Hair/Nail Type |
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Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Dysostosis, Stanescu Type |
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Persistent open anterior fontanelle, Cerebral calcification, Micromelia, Short neck, Hypoplasia o... |
ORPHA:1798 |
Cornelia De Lange Syndrome 1 |
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Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar... |
OMIM:122470 |
Corticobasal Syndrome |
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Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... |
ORPHA:454887 |
Hypertrichosis, Congenital Generalized |
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Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
Spinocerebellar Ataxia 45 |
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Cerebellar atrophy |
OMIM:617769 |
Woolly Hair, Autosomal Recessive 3 |
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Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, P... |
OMIM:263750 |
Codas Syndrome |
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Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Generalized... |
OMIM:600373 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Baller-Gerold Syndrome |
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Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... |
OMIM:614078 |
Melnick-Needles Syndrome |
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Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Maxillonasal Dysplasia |
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Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Dystonia 12 |
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Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia |
OMIM:128235 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Orofaciodigital Syndrome Type 3 |
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Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Smooth philtrum, Ulnar deviation of the hand, Posteriorly rotated ears, Proximal placement of thu... |
OMIM:620113 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
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Alopecia, Alopecia of scalp |
OMIM:260910 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Thin upper lip vermilion, Short femur, Abnormal pinna morphology, Sandal gap, Rhiz... |
OMIM:607143 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, E... |
OMIM:274000 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... |
ORPHA:314632 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly ... |
ORPHA:2886 |
Pycnodysostosis |
|
Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... |
ORPHA:3404 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... |
OMIM:618363 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Otoonychoperoneal Syndrome |
|
Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f... |
OMIM:259780 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... |
ORPHA:949 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Atelosteogenesis Type Iii |
|
Polyhydramnios, Micrognathia, Short tubular bones of the hand, Knee dislocation, High palate, Sho... |
ORPHA:56305 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... |
OMIM:190351 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Posteriorly rotated ears, Intestinal malrotation, Broad hallux, Micrognathia, Carious... |
OMIM:613684 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Edema, Macroglossia, Short ... |
ORPHA:1423 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Joint sti... |
ORPHA:1801 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... |
OMIM:616531 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:1538 |
Anauxetic Dysplasia 3 |
|
Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Thoracolumbar kyphosco... |
OMIM:618853 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing mo... |
ORPHA:1427 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... |
ORPHA:916 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract... |
OMIM:601559 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Premature osteoarthri... |
OMIM:184840 |
Trichorhinophalangeal Syndrome Type 1 |
|
Frontal bossing, Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of t... |
ORPHA:77258 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis |
OMIM:619052 |
Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate... |
ORPHA:314795 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:776 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Lethal Kniest-Like Dysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Mesomelic/rhizomel... |
ORPHA:2347 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum... |
OMIM:615398 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... |
OMIM:119600 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Abnormal form of the vertebral b... |
ORPHA:3134 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala... |
ORPHA:1277 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... |
OMIM:223800 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:605388 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Narrow chest, ... |
OMIM:218330 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Micrognathia, Microcephaly, Cleft palate, Cerebellar hypoplasia, Low-s... |
OMIM:616570 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Absent septum pellucidum, Bilateral cleft lip, Cleft upper l... |
OMIM:601357 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Loss of ambulation... |
ORPHA:521406 |
Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Microcephaly, Kyphosis, Thick lower lip verm... |
OMIM:234250 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... |
ORPHA:2501 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va... |
OMIM:269300 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Pelviscapular Dysplasia |
|
Frontal bossing, Brachydactyly, Hypoplastic scapulae, Abnormal pinna morphology, Congenital hip d... |
ORPHA:93333 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Cleft palate |
OMIM:615524 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Br... |
OMIM:607136 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Anal a... |
ORPHA:3301 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... |
ORPHA:2635 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cerebral calcification, Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large ili... |
ORPHA:2780 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatu... |
OMIM:259440 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... |
OMIM:156550 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... |
ORPHA:915 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Vacterl/Vater Association |
|
Occipital encephalocele, Congenital diaphragmatic hernia, Anorectal anomaly, Anencephaly, Tracheo... |
ORPHA:887 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontanel, Sensorineural hearing i... |
OMIM:222448 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia |
OMIM:618824 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... |
ORPHA:2980 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, J... |
ORPHA:40 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... |
OMIM:613135 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Frontal bossing, Posteriorly rotated ears, Rhizomelia, Cranios... |
ORPHA:93329 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Wide anterior fon... |
OMIM:207410 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... |
ORPHA:96334 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Pectus... |
ORPHA:1388 |
Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Flat occiput, Abnormality of the ear, Abnormal finger morphology, Brachyce... |
ORPHA:2511 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Hypoperis... |
ORPHA:1018 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon... |
OMIM:239000 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Short thorax, Abnorma... |
ORPHA:85166 |
Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, G... |
OMIM:616145 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... |
OMIM:609324 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t... |
ORPHA:2491 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super... |
ORPHA:1787 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:605909 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Posteriorly rotated ears, Micrognathia, Hypodysplasia of the corpus callosum, Microcephaly, Short... |
OMIM:257300 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... |
ORPHA:2751 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectu... |
OMIM:609223 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... |
ORPHA:2140 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal ... |
ORPHA:163966 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Carious teeth, Absent thumb, Microcephaly... |
ORPHA:96097 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... |
OMIM:221820 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Microcephaly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, ... |
ORPHA:2319 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... |
ORPHA:319195 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy |
OMIM:619333 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... |
OMIM:182212 |
Immunodeficiency 12 |
|
Recurrent lower respiratory tract infections, Esophageal stricture, Bronchiectasis |
OMIM:615468 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Scarf Syndrome |
|
Barrel-shaped chest, Posteriorly rotated ears, Short neck, Abnormal form of the vertebral bodies,... |
OMIM:312830 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Short ne... |
OMIM:210710 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Abnormal dental en... |
ORPHA:582 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Frontal bossing, Microcephaly, Hypoplasia of the odontoid proce... |
ORPHA:85172 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Barrel-shaped chest, Relative macrocephaly, Posteriorly rota... |
OMIM:612813 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Trigonocephaly... |
ORPHA:79113 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Aminopterin Syndrome Sine Aminopterin |
|
Thoracic scoliosis, Micrognathia, Brachycephaly, Oligodontia, High palate, Syndactyly, Rudimentar... |
OMIM:600325 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome... |
OMIM:258315 |
Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Pulmonary hypoplasia, Tracheomalacia |
OMIM:245650 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... |
OMIM:277170 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Flexion contracture, Hydrops fetalis, N... |
ORPHA:1865 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:617384 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Short metatar... |
ORPHA:439822 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Frontal bossing, Recurrent fractures, Micromelia, Micrognathia, Abnormal ... |
ORPHA:93299 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Dolichocephaly, Carious teeth... |
OMIM:617102 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Micrognathia, Abnormal rib morphology, Brachycephaly, Ab... |
ORPHA:52 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... |
OMIM:617967 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... |
ORPHA:364577 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Cohen Syndrome |
|
Pes planus, Thoracic scoliosis, Short metacarpal, Lumbar hyperlordosis, Single transverse palmar ... |
OMIM:216550 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... |
OMIM:142900 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Microretrognathia, Multiple rib fractures, Angulated humerus, Bowing of the long bone... |
OMIM:616229 |
Achondrogenesis Type 1B |
|
Frontal bossing, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Polyhydr... |
ORPHA:93298 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Grant Syndrome |
|
Joint dislocation, Frontal bossing, Bowing of the long bones, Micrognathia, Open bite, Abnormal r... |
ORPHA:2097 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... |
ORPHA:1597 |
Anauxetic Dysplasia 2 |
|
Short neck, Flexion contracture, Coxa vara, Hypoplasia of the femoral head, Thoracolumbar kyphosc... |
OMIM:617396 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Midface retrusion, Polyhydramnios, Short neck, Kyphosis, Par... |
ORPHA:420794 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... |
OMIM:615777 |
Pseudodiastrophic Dysplasia |
|
Smooth philtrum, Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micro... |
OMIM:264180 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia |
ORPHA:71517 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormality of the e... |
ORPHA:457395 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... |
ORPHA:250984 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wid... |
OMIM:614524 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragma... |
OMIM:601163 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Frontal bossing, Kyphoscoliosis, Wide anterior fontanel, Dental ... |
OMIM:608545 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop... |
ORPHA:1540 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender lon... |
OMIM:608154 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, F... |
OMIM:200610 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Death in infancy, Polyhyd... |
OMIM:616809 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor... |
OMIM:255800 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe... |
ORPHA:1327 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barr... |
OMIM:607095 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ... |
OMIM:212720 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short... |
OMIM:602152 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... |
ORPHA:101150 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas... |
OMIM:614900 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Cerebral calcification, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry,... |
ORPHA:85198 |
Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement |
OMIM:276821 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal... |
ORPHA:2145 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn... |
ORPHA:1307 |
Mesomelia-Synostoses Syndrome |
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Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Frontal bossing, Turricephaly, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the maxilla, A... |
ORPHA:93262 |
Endocrine-Cerebroosteodysplasia |
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Single transverse palmar crease, Micromelia, Micrognathia, Polyhydramnios, Preaxial polydactyly, ... |
OMIM:612651 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
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Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Non-Distal Duplication 10Q |
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Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Pectus excavatum, Microcephaly,... |
ORPHA:1695 |
Stickler Syndrome, Type I |
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Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac... |
OMIM:108300 |
Van Maldergem Syndrome 2 |
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Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
Trichorhinophalangeal Syndrome Type 2 |
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Low-set, posteriorly rotated ears, Joint dislocation, Thin upper lip vermilion, Bilateral single ... |
ORPHA:502 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
Osteogenesis Imperfecta, Type Iii |
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Frontal bossing, Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple pre... |
OMIM:259420 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis |
OMIM:615643 |
Intellectual Disability, Birk-Barel Type |
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Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... |
ORPHA:166108 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Abnormal motor neuron morphology |
DECIPHER:29 |
Orofaciodigital Syndrome Ix |
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Toe syndactyly, Median cleft lip, Accessory oral frenulum, Microcephaly, Abnormality of the denti... |
OMIM:258865 |
Coffin-Lowry Syndrome |
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Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... |
ORPHA:192 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Orofaciodigital Syndrome Type 5 |
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High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... |
ORPHA:2919 |
Mesomelic Dysplasia, Savarirayan Type |
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Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Orofaciodigital Syndrome X |
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Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Chondrodysplasia, Blomstrand Type |
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Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Fetal ascites, Squared ilia... |
OMIM:215045 |
Slc35A2-Cdg |
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Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Sho... |
ORPHA:356961 |
Edinburgh Malformation Syndrome |
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Death in infancy, Hydrocephalus |
OMIM:129850 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Protruding ear,... |
ORPHA:85279 |
Achondrogenesis Type 2 |
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Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Edema, Hypoplas... |
ORPHA:93296 |
Craniodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Frontal bossing, Abnormal rib morphology, Macrocephaly, Conductive hea... |
ORPHA:1513 |
Camptosynpolydactyly, Complex |
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Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur... |
OMIM:610967 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... |
ORPHA:90653 |
Epiphyseal Dysplasia, Multiple, 2 |
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Epiphyseal dysplasia, Frontal bossing, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, ... |
OMIM:600204 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Cerebellar vermis hypoplasia, Lateral clavicle hook, Brachycephaly, Hydrops fetalis, Pectus carin... |
OMIM:263520 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Carpenter Syndrome 1 |
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Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Midface retrusion, Short dis... |
ORPHA:2776 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
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Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Clino... |
OMIM:614701 |
Keutel Syndrome |
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Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren... |
ORPHA:85202 |
Meier-Gorlin Syndrome 1 |
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Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flexion contract... |
OMIM:224690 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Pectus c... |
OMIM:300676 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
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Bradykinesia, Lower limb spasticity |
OMIM:618878 |
Spinocerebellar Ataxia 10 |
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Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal sensory impairment, D... |
OMIM:603516 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
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Pulmonary hypoplasia |
OMIM:615228 |
Congenital Myopathy 1B, Autosomal Recessive |
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Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking |
ORPHA:306669 |
Trichodysplasia-Xeroderma Syndrome |
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Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Pseudoachondroplasia |
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