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, Rodríguez 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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Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Thanatophoric Dysplasia, Type Ii |
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Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Polyhydramnios, ... |
OMIM:187601 |
Hypomandibular Faciocranial Dysostosis |
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Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormal trache... |
ORPHA:1790 |
Smith-Mccort Dysplasia 2 |
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Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... |
OMIM:615222 |
Coffin-Siris Syndrome 1 |
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Single transverse palmar crease, Conical tooth, Partial agenesis of the corpus callosum, Brachyce... |
OMIM:135900 |
Mietens Syndrome |
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Hypoplasia of the ulna, Talipes, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular necr... |
ORPHA:2557 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
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Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Tremor, Bradykinesia, Ataxia, Rigidity |
OMIM:617836 |
Hernia, Anterior Diaphragmatic |
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Neonatal death |
OMIM:306950 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
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Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
Marie Unna Hereditary Hypotrichosis |
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Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Infantile Dystonia-Parkinsonism |
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Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... |
ORPHA:238455 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Long ... |
OMIM:618870 |
Osteogenesis Imperfecta, Type Xiii |
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Reduced bone mineral density, Protruding ear, Pectus carinatum, Enlarged thorax, Femoral bowing, ... |
OMIM:614856 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Micrognathia, Metat... |
ORPHA:3082 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Axial Spondylometaphyseal Dysplasia |
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Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Atypical Progressive Supranuclear Palsy Syndrome |
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Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Fibrochondrogenesis |
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Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnormality, Wide ... |
ORPHA:2021 |
Mesomelic Dysplasia, Savarirayan Type |
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Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Osteoglophonic Dysplasia |
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Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Cole-Carpenter Syndrome 2 |
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Osteopenia, Microretrognathia, Wide cranial sutures, Midface retrusion, Frontal bossing, Recurren... |
OMIM:616294 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Sacral dimple, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophag... |
OMIM:314390 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... |
OMIM:619911 |
Achondrogenesis |
|
Frontal bossing, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Polyhydr... |
ORPHA:932 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Abnormality of t... |
ORPHA:1387 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi... |
ORPHA:2484 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Triangular m... |
ORPHA:166024 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Dolichocephaly, Open bite, High pala... |
ORPHA:168624 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hyp... |
OMIM:136760 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Frontal bossing, Midface retrusion, Posteriorly rotated ears, Cleft soft p... |
OMIM:618529 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi... |
OMIM:184705 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem... |
OMIM:619142 |
Muenke Syndrome |
|
Brachycephaly, Coronal craniosynostosis, High palate, Short middle phalanx of toe, Thimble-shaped... |
OMIM:602849 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Contracture of ... |
OMIM:607015 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... |
OMIM:272440 |
Pierpont Syndrome |
|
Uplifted earlobe, Short neck, Brachycephaly, Widely spaced teeth, Prominent fingertip pads, Joint... |
ORPHA:487825 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Cleft hard palate, Short neck, Clinodactyly of the... |
OMIM:300990 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Cone-shaped epiphysis,... |
ORPHA:71267 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Trigon... |
OMIM:604757 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Cutaneou... |
OMIM:211380 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, Microtia, Macroc... |
ORPHA:261295 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... |
OMIM:619719 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Prominent fingertip pads, Flat occiput, Single transverse palmar crease, Microcephaly, Supernumer... |
OMIM:617412 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Narrow foot, Tibial bowing, Tarsometa... |
OMIM:600383 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Facial edema, Reduced bone mineral density, Microdontia, Hy... |
ORPHA:2909 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Microcephaly, ... |
ORPHA:77300 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric... |
ORPHA:2050 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Protruding ear, Pectus carinatum, Tibial bow... |
ORPHA:93315 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Microcephaly, Kyphosis, Limited elbow extension, S... |
OMIM:180870 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Micrognathia, Lower ... |
ORPHA:1703 |
Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small... |
OMIM:187600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o... |
OMIM:617974 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... |
OMIM:304150 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Brachydactyly, Abnormal thorax morpho... |
ORPHA:508542 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Kyphoscolios... |
OMIM:614727 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5t... |
ORPHA:1520 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... |
OMIM:606324 |
Three M Syndrome 2 |
|
Short neck, Protruding ear, Pectus carinatum, High palate, Intrauterine growth retardation, Long ... |
OMIM:612921 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Microcephaly, Down... |
ORPHA:2107 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... |
ORPHA:2662 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Action tremor |
OMIM:606438 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ... |
ORPHA:2357 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ri... |
OMIM:300863 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesopha... |
ORPHA:2437 |
Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscolios... |
OMIM:215100 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... |
OMIM:183900 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype... |
OMIM:601492 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Oral leukoplakia, Esophageal stricture, Pulmonary fibrosis |
OMIM:224230 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hypoplas... |
OMIM:619841 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Cerebral ca... |
ORPHA:1782 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... |
OMIM:261540 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Polyhydramnios, Pectus carinatum, Vertebral ... |
OMIM:312870 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Polyhydramnios, Coxa vara, Pectus carinatum, High palate, W... |
ORPHA:800 |
Pierpont Syndrome |
|
Short neck, Brachycephaly, Large fleshy ears, Widely spaced teeth, Short palm, Prominent fingerti... |
OMIM:602342 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening, Midface retrusion |
OMIM:300261 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... |
OMIM:246560 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Oral leukoplakia, Esophageal stricture, Pulmonary fibrosis |
OMIM:613989 |
Renal Agenesis, Bilateral |
|
Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy... |
ORPHA:1848 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b... |
OMIM:126550 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Conductive hearing impairme... |
ORPHA:444077 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectus carinatum, Downturn... |
ORPHA:1507 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Pec... |
ORPHA:481152 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Underfolded helix, Cleft... |
OMIM:620107 |
Thanatophoric Dysplasia |
|
Micromelia, Polyhydramnios, Narrow chest, Cloverleaf skull, Abnormal sacroiliac joint morphology,... |
ORPHA:2655 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Triphalangeal th... |
ORPHA:794 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Beaking of vertebral ... |
OMIM:231070 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Hypoplasia of the primar... |
OMIM:257850 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Pulmonary hypoplasia |
OMIM:614096 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ... |
ORPHA:3473 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna m... |
ORPHA:178303 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve... |
ORPHA:2462 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Sensorineural hearing impairment, Uln... |
OMIM:605432 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Shuffling gait, Difficulty walk... |
ORPHA:53351 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Frontal bossing, Posteriorly rotated ears, Bowed humerus, Short li... |
OMIM:619479 |
Mesomelic Dysplasia, Nievergelt Type |
|
Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality... |
ORPHA:2633 |
Alexander Disease |
|
Death in infancy, Abnormal dentate nucleus morphology, Hydrocephalus, Death in adolescence, Death... |
OMIM:203450 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinski sign, Limb at... |
OMIM:615157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614830 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ... |
OMIM:224400 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia |
OMIM:261640 |
Cranioectodermal Dysplasia |
|
Narrow chest, Clinodactyly of the 5th finger, Microdontia, Finger syndactyly, Rhizomelia, Abnorma... |
ORPHA:1515 |
Achondrogenesis, Type Ib |
|
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Umbilical hernia, Stillbirt... |
OMIM:600972 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Micr... |
OMIM:300590 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia... |
OMIM:122860 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Microgna... |
OMIM:241800 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Mi... |
OMIM:611209 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Turricephaly, Aplasia/Hypoplasi... |
ORPHA:2167 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Hydrops fetalis, Narrow chest, Distal shortening of limbs, Increase... |
ORPHA:50945 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Death in ch... |
OMIM:613320 |
Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Microcephaly, Small han... |
ORPHA:11 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,... |
ORPHA:13 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... |
OMIM:601356 |
C Syndrome |
|
Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh... |
OMIM:211750 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li... |
ORPHA:156728 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Clinodactyly |
OMIM:615984 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Microgna... |
OMIM:224410 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Latera... |
OMIM:617895 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Anodontia, Hearing impairme... |
ORPHA:90650 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Coxa valga, Osteoporosis, Cerebral atrophy, Finger clinodactyly, Pat... |
ORPHA:2958 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Lymphedema, Reduced bone mineral densi... |
ORPHA:881 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Thoracic platyspondyly, Increased intervertebral space, Metaphyseal widening, Squa... |
OMIM:618961 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:166300 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Brachycephaly, Clinodactyly of the 5th finger, Prominent fingertip pads, T... |
OMIM:619721 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... |
ORPHA:1837 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Microcephaly, Hyperlordosis, Short neck, Short thorax, Abnormal rib morphology, Abn... |
ORPHA:1797 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis |
OMIM:275300 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... |
ORPHA:397973 |
Hypochondroplasia |
|
Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hy... |
OMIM:146000 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Spasticity |
OMIM:617435 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral... |
OMIM:613805 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Mandibular prognathia, Low-set, posteriorly rotated ears, Barrel-shaped chest, Post... |
ORPHA:171866 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Oxycephaly, Short long bone, Microtia, Limb undergrowth, Thoracic hy... |
ORPHA:221054 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Microcephaly, Adducted thumb, Notched primary central incisor, L... |
OMIM:620062 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Multiple joint dislocation, Brachycephaly, Pectus carinatum... |
OMIM:245600 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykinesia, Progre... |
ORPHA:98755 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... |
ORPHA:289560 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... |
ORPHA:2180 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly,... |
OMIM:614120 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, Short neck, Brachycephal... |
OMIM:259775 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Long clavicles, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fi... |
OMIM:608149 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Wormian bones, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Pectus ex... |
OMIM:617808 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scolio... |
ORPHA:85174 |
Mirage Syndrome |
|
Hydrocephalus, Esophageal stricture, Gastroesophageal reflux, Aspiration pneumonia, Achalasia |
OMIM:617053 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Microcephaly, Narrow mouth, ... |
ORPHA:251019 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Microcephaly, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal ... |
ORPHA:177 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,... |
OMIM:618877 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Polyhydramnios, Micrognathia, Microcephaly... |
OMIM:263210 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmo... |
ORPHA:2847 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Neoplas... |
ORPHA:142 |
Cantu Syndrome |
|
Short neck, Lymphedema, Metaphyseal widening, Narrow chest, Thick upper lip vermilion, Erlenmeyer... |
OMIM:239850 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno... |
ORPHA:2588 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Hypoplasia of the ma... |
ORPHA:2409 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Trismus, Narrow mouth, Wh... |
OMIM:277720 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal ... |
OMIM:618188 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui... |
OMIM:608710 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Esophageal stricture, High palate, Bronchiectasis |
OMIM:615816 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Polyhydra... |
ORPHA:3103 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Promin... |
OMIM:619122 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Bifid uvula, Microretrognathia, Low-set, posteriorly rotated ears, Mesoaxial polyd... |
ORPHA:672 |
Coffin-Siris Syndrome 11 |
|
Frontal bossing, Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia... |
OMIM:618779 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process m... |
ORPHA:314621 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narr... |
OMIM:269860 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of th... |
ORPHA:1240 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, Thoracic dysplasia, High palate... |
OMIM:614091 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Nonimmune hydrops feta... |
OMIM:166210 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Posteriorly rotated ears, Microcephaly, Short neck, Sensorineural hearing impairm... |
OMIM:618958 |
Serkal Syndrome |
|
Malrotation of small bowel, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... |
OMIM:208230 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Truncal ataxia, Episod... |
OMIM:601338 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... |
ORPHA:157941 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib... |
ORPHA:3015 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Short neck, Flexion contracture, Brachycephaly, Protruding ear, High palate, Tapere... |
OMIM:617452 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Single transverse palma... |
OMIM:616788 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Edema, Abnormal occipital bone morphology... |
ORPHA:73 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vertebral fusi... |
ORPHA:959 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... |
ORPHA:251056 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathia, Equinovarus deformi... |
ORPHA:1143 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Cogwheel rigidity, Distal sensory impairment, Bradykinesia, Paresthesia, Shuffling gait, ... |
ORPHA:254886 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Cel... |
ORPHA:576283 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Diffuse white matter abnormalities, Flex... |
OMIM:218000 |
Cerebellofaciodental Syndrome |
|
Pes planus, Single transverse palmar crease, Tapered finger, Hypoplasia of the pons, Microcephaly... |
OMIM:616202 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thick lower lip verm... |
OMIM:618658 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Monosomy 18P |
|
Kyphoscoliosis, Micrognathia, Carious teeth, Pectus excavatum, Microcephaly, Short neck, Lymphede... |
ORPHA:1598 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Proximal placement o... |
ORPHA:1488 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... |
ORPHA:1264 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr... |
OMIM:615761 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ... |
ORPHA:93324 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Short neck, Hypoplasia of the maxilla, Upper limb perome... |
ORPHA:1299 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... |
OMIM:619725 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Bilater... |
OMIM:615582 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Abnormal cortical gyration, Hypoplasia of t... |
OMIM:610829 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe... |
ORPHA:93311 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Lymphedema... |
ORPHA:1318 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mob... |
ORPHA:3145 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling gait |
ORPHA:412066 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, P... |
ORPHA:166100 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Microcephaly, Short neck, Small hand, ... |
OMIM:300882 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly o... |
ORPHA:83 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... |
OMIM:109150 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Polyhydramnios, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narr... |
OMIM:301041 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Macroglossia, Neural tube defect, High palate, Pulmona... |
ORPHA:79321 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Microcephaly, Thick corpus callosum, Brachycephaly, Genu val... |
OMIM:617798 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contractur... |
OMIM:268300 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Microcephaly, Cleft pal... |
OMIM:615502 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Micrognathia, Microcephaly, Velopharyngeal insufficiency, High palate,... |
OMIM:608363 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Pectus ... |
ORPHA:2522 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Esophageal stenosis, Malabsorption, Anorectal anomaly, Tracheoe... |
ORPHA:1775 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Frontal bossing, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:50814 |
Agnathia-Otocephaly Complex |
|
Aglossia, Cleft palate, Pulmonary hypoplasia, Holoprosencephaly, Tracheomalacia, Microglossia |
OMIM:202650 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Hypophosphatasia, Infantile |
|
Death in infancy, Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the dentition,... |
OMIM:241500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell... |
OMIM:617604 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Narrow... |
OMIM:264090 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, Pectus carinatum, ... |
OMIM:121050 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:352682 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Cerebellar malformation, Ventriculomegaly |
ORPHA:324416 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ... |
OMIM:619131 |
Multiple System Atrophy |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:102 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Pes planus, Cerebellar vermis hypoplasia, Genu recurvatum, U... |
ORPHA:364028 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Cleft palate, Genera... |
ORPHA:994 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... |
ORPHA:399 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Brachycephaly, Abnormal dental morphology, Abnormal d... |
ORPHA:85199 |
Temple Syndrome |
|
Relative macrocephaly, Frontal bossing, Posteriorly rotated ears, Micrognathia, Flexion contractu... |
OMIM:616222 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb... |
ORPHA:3107 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Microcephaly, Micrognathia, Kyphosis, Deep philtrum, Narrow mouth, Brac... |
OMIM:615834 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, C... |
OMIM:614188 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Dysphagia |
OMIM:616029 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Recurrent patellar di... |
OMIM:619143 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Frontal bossing, Arachno... |
ORPHA:2994 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly... |
OMIM:618265 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Microcephaly, Micr... |
ORPHA:3121 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... |
ORPHA:2521 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia... |
ORPHA:94066 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Chiari malformation |
ORPHA:261102 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Polyhydramnios, Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of ... |
ORPHA:2215 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Brachycep... |
ORPHA:171839 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Pes planus, Tapered finger, Dolichocephaly, Sensorineural hearing impairme... |
OMIM:618672 |
Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig... |
ORPHA:227510 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... |
ORPHA:89842 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Polyhydramnios, Micrognathia, Short neck,... |
ORPHA:1486 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... |
OMIM:300055 |
Renpenning Syndrome |
|
Mandibular prognathia, Macrodontia, Joint stiffness, Pectus excavatum, High, narrow palate, Senso... |
ORPHA:3242 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Patellar hypoplasia, Protruding ear, High ... |
ORPHA:3041 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, ... |
ORPHA:238750 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Brachydactyly, Cloverleaf skull, Micromelia, Polyhydramnios, Kyph... |
ORPHA:93274 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Pes planus, Abnormal cortical gyration, Selective tooth agenesis, Micrognathia,... |
OMIM:613823 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p... |
OMIM:619941 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... |
ORPHA:2554 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Microcephaly, Pa... |
OMIM:613804 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyl... |
ORPHA:166277 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ... |
OMIM:606851 |
Neu-Laxova Syndrome |
|
Osteopenia, Cerebral calcification, Micromelia, Micrognathia, Polyhydramnios, Flexion contracture... |
ORPHA:2671 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia |
OMIM:616733 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... |
OMIM:613280 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia |
OMIM:619003 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h... |
ORPHA:1529 |
Vitamin D-Dependent Rickets, Type 2A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow... |
OMIM:277440 |
Opsismodysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl... |
ORPHA:2769 |
Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Polyhydramnios, Brachycephaly, High palate, Narrow ... |
OMIM:617746 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Dysphagia, Abnorma... |
OMIM:226600 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Protr... |
ORPHA:627 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, U-Shaped upper lip vermilion, Encephalocele, Optic... |
OMIM:603671 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Frontal bossing, Lumbar hyperlordosis, Broad hallux, Short thumb, Prematur... |
OMIM:165800 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Pneumothorax, Cleft palate, ... |
ORPHA:2257 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, Ar... |
ORPHA:505237 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno... |
ORPHA:249 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus, Cerebellar hypoplasia |
OMIM:619302 |
Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Long philt... |
OMIM:130720 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Microcephaly, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology... |
ORPHA:2643 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Pes planus, Beaking of vertebral bodies, Recurrent fractures, Talipes, Ost... |
ORPHA:2078 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, High, narrow palate, Sensorineural hearing impairment,... |
OMIM:604841 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Subcortical band heterotopi... |
OMIM:618737 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... |
ORPHA:98933 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Frontal open ... |
OMIM:225410 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Multiple joint contractures, Congenital hip dislocation, Cerebellar vermis hypoplasia, Single tra... |
OMIM:618291 |
Fried Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus |
ORPHA:85335 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur... |
ORPHA:240071 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Ky... |
ORPHA:263463 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Micrognathia, ... |
ORPHA:435638 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal pleura morphology, Esopha... |
ORPHA:36426 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... |
ORPHA:508488 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Microcephaly, Macrotia, Cleft palate, Femoral bowing, An... |
OMIM:616462 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Broad skull, ... |
OMIM:277600 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Conductive hearing impa... |
OMIM:617877 |
Vacterl With Hydrocephalus |
|
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... |
ORPHA:3412 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:1532 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Hypoplasia of ... |
OMIM:253310 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, ... |
OMIM:249420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Frontal bossing, Thin upper lip vermilion,... |
OMIM:309520 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Nuchal Bleb, Familial |
|
Stillbirth |
OMIM:257350 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... |
ORPHA:2345 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing... |
OMIM:109120 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint contracture, Joint laxity, Increased susceptibility to fractures, Long upper li... |
OMIM:615349 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Micr... |
OMIM:619489 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pectus excavatum, Abnormality o... |
OMIM:179613 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Congenital Tracheomalacia |
|
Bronchomalacia, Pneumonia, Anomalous tracheal cartilage, Esophageal atresia, Tracheobronchomalaci... |
ORPHA:95430 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short metatarsal, Abn... |
ORPHA:217017 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Posteriorly rotated ears, Sandal gap, Tapered finger, Microcephaly, Cleft lip, Narrow... |
OMIM:618089 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D... |
ORPHA:75567 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, Pol... |
ORPHA:508533 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... |
OMIM:139210 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ... |
OMIM:166220 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Thin upper lip vermilion, Micrognathia, Microcephaly, Brachycephaly, Pectus carinatum, Wide mouth... |
OMIM:615419 |
Occipital Horn Syndrome |
|
Osteopenia, Cerebral calcification, High, narrow palate, Coxa vara, Pectus carinatum, Humerus var... |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Brachycephaly, Plagiocephaly,... |
OMIM:618577 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow... |
OMIM:264700 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Pulmonary hypoplasia... |
ORPHA:171430 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
Hypermanganesemia With Dystonia 2 |
|
Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Opisthotonus, Clumsiness, A... |
OMIM:617013 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... |
ORPHA:96061 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign |
OMIM:619063 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Shuffling gait, Loss of ambulation, Hirsu... |
ORPHA:228346 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ... |
ORPHA:98760 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Polyhydram... |
ORPHA:2189 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Lower limb asymmetry, Crowded ma... |
ORPHA:2063 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Spatulate ribs, Diffuse white matter abnormalities, Hydrops fetalis, Pe... |
ORPHA:79255 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormi... |
OMIM:619638 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Dysplastic corpus callosum, Vertebral clefting, Brachycephaly, ... |
OMIM:616854 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Frontal bossing, Arachnodactyly, Sandal gap, Micromelia, Genu ... |
ORPHA:1035 |
Fraser Syndrome 3 |
|
Hydrocephalus, Abnormal lung lobation, Tracheal atresia |
OMIM:617667 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Encephalocele, Lumbar hyperlordosis, Camp... |
ORPHA:391474 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Frontal bossing, Rhizomelia, Talipes, Micromelia, Short... |
ORPHA:1842 |
Noonan Syndrome 13 |
|
Micrognathia, Short neck, Lymphedema, Enlarged thorax, High palate, Widely spaced teeth, Microdon... |
OMIM:619087 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology |
ORPHA:93283 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Trisomy 20P |
|
Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine... |
ORPHA:261318 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy |
OMIM:618412 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Hip subluxation, Brachycephaly, Reduced bone mineral density, Cerebral cortical atr... |
OMIM:620200 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Polyhydramnios, Microcephaly, Abnormal limb bone morphology, Hydr... |
ORPHA:2204 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Smooth philtrum, Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Oligohyd... |
ORPHA:293725 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Downturned corners of mouth, Sh... |
ORPHA:3455 |
Marshall Syndrome |
|
Frontal bossing, Thick upper lip vermilion, Cerebral calcification, Micrognathia, Hypoplasia of t... |
ORPHA:560 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Predominantly lower limb lymphedema, Microcephaly, Hypop... |
ORPHA:293939 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Chime Syndrome |
|
Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clav... |
ORPHA:3474 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Enlarged joints, Tapered finger, Pectus excavatum, Short n... |
OMIM:607131 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Megalencephaly, Kyphosis, Wide anterior fontan... |
OMIM:616482 |
Pycnodysostosis |
|
Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Delayed eru... |
OMIM:265800 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Congenital contracture, Abnormal sternum morpholog... |
OMIM:248700 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... |
ORPHA:3236 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Short neck, High, narrow palate, Brachycephaly, Ap... |
ORPHA:96149 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing ribs, Abnorma... |
ORPHA:2759 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Microcephaly, Short n... |
ORPHA:236 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Brachycepha... |
ORPHA:207 |
Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Dysphagia |
OMIM:300978 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow chest, Narro... |
OMIM:250220 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Mi... |
ORPHA:99742 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Cerebella... |
OMIM:613153 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Holoprosencephaly, Pu... |
ORPHA:250999 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Thickened h... |
OMIM:608328 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Hypoplasia of the maxilla, Simplified gyral pattern, Cleft palate, Cerebral atroph... |
OMIM:614261 |
Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posterio... |
ORPHA:35107 |
Geleophysic Dysplasia 3 |
|
Tracheal stenosis, Pneumonia |
OMIM:617809 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Hydrops fetalis, Pectus carinatum, Narrow greate... |
OMIM:253220 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Microcephaly, Abnor... |
ORPHA:276422 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Prominent me... |
OMIM:613792 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Hig... |
OMIM:616866 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Micrognathia, Short neck, Brachycephaly, Short palm, Clinodactyly o... |
OMIM:620073 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... |
OMIM:613803 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Hypoplastic is... |
ORPHA:3003 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno... |
OMIM:617952 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Ab... |
OMIM:144750 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Posteriorly rotated ears, Broad hallux, Microcephaly, Wide anterior fo... |
OMIM:239710 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Death in childhood, Ventriculome... |
OMIM:610333 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal rib morphology, Slender long bone, A... |
ORPHA:1506 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis, Cleft soft palate |
OMIM:620183 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration sensation, Babi... |
OMIM:258450 |
Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Brachycephaly, Reduced bone mineral density, Glossoptosis, Rib... |
ORPHA:2108 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Duodenal stenosis |
ORPHA:2470 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Microcephaly, Brachycephaly, Downt... |
OMIM:617752 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:304100 |
Trisomy 13 |
|
High, narrow palate, Hydrops fetalis, Narrow chest, Bilateral single transverse palmar creases, A... |
ORPHA:3378 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Pes planus, Brachydactyly, Everted upper lip vermilion, Abnormality of the... |
OMIM:182290 |
Al Kaissi Syndrome |
|
Pes planus, Sacral dimple, Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotat... |
OMIM:617694 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D... |
OMIM:618622 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteriorly placed anus, Tracheomalacia, Tracheal stenosis, Cleft palate |
OMIM:217980 |
Zechi-Ceide Syndrome |
|
Cerebellar vermis hypoplasia, Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligod... |
OMIM:612916 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Gait ataxia, Clumsines... |
ORPHA:98768 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Brachycephaly, Long p... |
OMIM:212066 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
German Syndrome |
|
Camptodactyly of finger, Micrognathia, Short neck, Hearing abnormality, Lymphedema, Limitation of... |
ORPHA:2077 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Hydrops fetalis, N... |
OMIM:617022 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Brachycephaly, Abnormal form of the vertebr... |
ORPHA:175 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum... |
ORPHA:96184 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere... |
OMIM:614815 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia... |
ORPHA:453510 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly... |
OMIM:610968 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Short neck, Brachycephaly, Clinodactyly of the 5th finger, Chronic otitis ... |
ORPHA:96263 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Cleft pa... |
OMIM:619124 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Bronchitis, Pyloric ... |
ORPHA:1199 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased... |
OMIM:618476 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Short neck, Brachycephaly, Clinodactyly of the 5th finger, Chronic otitis ... |
ORPHA:96264 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Short neck, Hypoplasia of ... |
ORPHA:444072 |
Fountain Syndrome |
|
Facial edema, Abnormal form of the vertebral bodies, Spina bifida occulta, Spina bifida, Abnormal... |
ORPHA:3219 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia |
ORPHA:1528 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Flat occiput, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Ti... |
ORPHA:251028 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Single transverse p... |
OMIM:617425 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Broad finger, Supernumerary maxillary inci... |
OMIM:302350 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Brachycephaly,... |
ORPHA:2095 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination, Difficulty walking |
ORPHA:171442 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Small earlob... |
OMIM:608156 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Polyhydramnios, Hemivertebrae, Hydrops fetalis, Finger clin... |
ORPHA:99776 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Senso... |
ORPHA:79107 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Anal atr... |
ORPHA:93950 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2637 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Micrognathia, Microcephaly, Preaxial polydactyly, Retrogn... |
OMIM:618142 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Cerebellar cyst |
OMIM:615181 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia |
ORPHA:70594 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Joint laxity, Mandibular prognathia, Frontal bossing, Sacral dimple, Tented upper lip vermilion, ... |
OMIM:615828 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Sensorineural hearing impairment, Brachycephaly, Macrocep... |
ORPHA:53271 |
Fetal Trimethadione Syndrome |
|
Micrognathia, Microcephaly, Brachycephaly, High palate, Abnormal helix morphology, Low-set ears, ... |
ORPHA:1913 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... |
ORPHA:37553 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... |
ORPHA:666 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Microcephaly, Pectus excavatum, Cleft upper lip, Brachycephaly, Cleft pala... |
OMIM:268850 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Microcephaly, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Small thenar emine... |
OMIM:239800 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Hydrops fetalis, Tali... |
OMIM:265000 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ... |
ORPHA:828 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... |
ORPHA:83468 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Metaphyseal wid... |
OMIM:620083 |
Orofaciodigital Syndrome I |
|
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia... |
OMIM:311200 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Premature loss of primary teeth, Microcephaly, 2-3 toe cutaneous syndactyly, Bra... |
OMIM:617364 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:618302 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Finger... |
ORPHA:1908 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Kyphoscoliosis, Heari... |
OMIM:616507 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Sh... |
OMIM:620369 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Intestinal malrotation, Gastroesophageal reflux, Pulmonary hypo... |
OMIM:618316 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypop... |
OMIM:615191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... |
ORPHA:306682 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Hemivertebrae, Brachycephaly, ... |
OMIM:156200 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Posteriorly rotated ears, Exaggerated cupid's bow, Polyhydramnios, Mi... |
OMIM:619833 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Narrow chest, Bifid uvula, Long philtrum, Joint laxity, Wide anterior fo... |
OMIM:607812 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis |
OMIM:601427 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
Xylt1-Cdg |
|
Joint laxity, Relative macrocephaly, Pes planus, Joint dislocation, Coxa valga, Microcephaly, Fla... |
ORPHA:370930 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, Brachy... |
OMIM:612513 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Short neck, Brachycephaly, Irregular vertebral endplates, P... |
OMIM:610442 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,... |
ORPHA:233 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Encephalomalacia, ... |
ORPHA:354 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Congenital hip dislocation, Dolichocephaly, Pyloric st... |
ORPHA:457279 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p... |
ORPHA:1784 |
Fraser Syndrome |
|
Encephalocele, Anal stenosis, Myelomeningocele, Abnormal lung lobation, Ectopic anus, High palate... |
ORPHA:2052 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe... |
OMIM:101200 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Microcephaly, Polyhydramnios, Hip dislocation, High palate, Limb unde... |
OMIM:618005 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Hemivertebrae, Brachycephaly,... |
ORPHA:79500 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the cochlea, Clinodactyly of the 2nd finger, Hypoplasia ... |
ORPHA:251061 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Polyhydramnios, Talipes calcaneovalgus, Ab... |
ORPHA:818 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... |
OMIM:617140 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Anal stenosis, Cerebellar vermis hypoplasia, Irregular dentition, Microgn... |
ORPHA:314679 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Micr... |
OMIM:618644 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Par... |
OMIM:109400 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait |
OMIM:168605 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Microcephaly, Hyperlordosis, Limitation of ... |
ORPHA:3068 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Calcaneovalgus deformity, Brachycephaly, High pala... |
ORPHA:562528 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal bronchus morphology, Abnormal stomach morphology, Abnormal lung mor... |
ORPHA:141127 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of c... |
OMIM:619194 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Microcephaly, Narrow palate, Protruding ear, Plagiocephaly, Abnormal cerebral white matter morpho... |
OMIM:617481 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... |
ORPHA:264450 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Frontal bossing, Osteomalacia, Bowing of the legs, Osteoarthritis, ... |
OMIM:307800 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Aspergillosis |
|
Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Pulmonary fibrosis, Abnormal tracheobron... |
ORPHA:1163 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Dysphagia |
OMIM:615510 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Three M Syndrome 3 |
|
Frontal bossing, Microcephaly, Hyperlordosis, Increased vertebral height, Short neck, Short thora... |
OMIM:614205 |
Moebius Syndrome |
|
Micrognathia, Short neck, Hypoplasia of the brainstem, High palate, Lower limb undergrowth, Short... |
OMIM:157900 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Impaired vibration s... |
ORPHA:98808 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Frontal bossing, Tented upper lip vermilion, ... |
ORPHA:371364 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of the 3rd fi... |
OMIM:101400 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Micrognathia, Microcephaly, 2-3 toe cutaneous syndactyly, Submucous cle... |
OMIM:164220 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Missing ribs, Micrognathia, Hemivertebrae, Brachycephaly, Cleft palate, Prominent occ... |
OMIM:220210 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, P... |
OMIM:180849 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Frontal bossing, Smooth philtrum, Posteriorly rotated ears, Thin upp... |
OMIM:616801 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Bowing of the legs, Hyp... |
ORPHA:1855 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm... |
ORPHA:2412 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Radial club hand, Preaxial ha... |
ORPHA:3312 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:305450 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... |
OMIM:619708 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... |
ORPHA:251014 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Downturned corners of mouth, Wide mouth, ... |
OMIM:618067 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Pes planus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Micro... |
ORPHA:459061 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:613155 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Narrow chest, Condu... |
ORPHA:2136 |
Pelger-Huet Anomaly |
|
Frontal bossing, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingival overgro... |
OMIM:169400 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Sensorineural hearing impairment, Short toe, Cone-shaped epiphyses of the phalanges o... |
OMIM:619269 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f... |
OMIM:616894 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Cerebral calcification, Arachnodactyly,... |
ORPHA:377 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Anky... |
OMIM:275210 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis, Brachycephaly, Macrocephaly, Thicken... |
ORPHA:178377 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib ... |
ORPHA:289157 |
Pendred Syndrome |
|
Tracheal stenosis |
ORPHA:705 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking |
ORPHA:171439 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Joint stiffness, Gingival overgrowth, Cerebral atrophy, Hypoplasti... |
OMIM:230600 |
Chronic Graft Versus Host Disease |
|
Esophageal ulceration, Esophageal stricture, Pneumothorax, Xerostomia, Bronchiectasis, Flexion co... |
ORPHA:99921 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Protruding ear, Short philtrum, Aplasia/Hypoplasia of th... |
ORPHA:50 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... |
ORPHA:228396 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Br... |
ORPHA:96148 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joi... |
ORPHA:2475 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... |
OMIM:603194 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Hip disl... |
OMIM:265050 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... |
OMIM:614592 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ... |
ORPHA:819 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Long philtrum, Fused thoracic vert... |
ORPHA:97360 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Hemivertebrae, Hand monodactyly, H... |
OMIM:214800 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin... |
ORPHA:171695 |
Dpm1-Cdg |
|
Flat occiput, Sandal gap, Tented upper lip vermilion, Trigonocephaly, Micrognathia, High, narrow ... |
ORPHA:79322 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Narrow p... |
ORPHA:66637 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr... |
OMIM:613390 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtrum,... |
OMIM:615433 |
Marden-Walker Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Agenesis of corpus callosu... |
ORPHA:2461 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange... |
OMIM:105650 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec... |
OMIM:618348 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Overfolding of the superior helices, Hypoplastic ischia, Micrognathia, B... |
ORPHA:313855 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration... |
OMIM:236680 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:236500 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Poly... |
ORPHA:261344 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, High palate, Narrow mouth, Retrognathia |
ORPHA:2528 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:97349 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Pes planus, Dandy-Walker malformation, Congenital hip dislocation, Midface retrusion, Frontal bos... |
OMIM:219200 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Cleft palate, Pulmonary ... |
OMIM:612284 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Single transvers... |
OMIM:619720 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Periorbital edema, Brachycephaly, Pectus carinatum, Short palm, Clino... |
ORPHA:363659 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... |
OMIM:607361 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Progres... |
OMIM:615108 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,... |
OMIM:600081 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Frontal bossing, Sacral dimple, Tented upper lip vermilion, Rocker bottom foot... |
OMIM:619762 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Microcephaly, Pierre-Rob... |
OMIM:619184 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Prune1-Related Neurological Syndrome |
|
Microcephaly, Micrognathia, Cerebral atrophy, Plagiocephaly, Bilateral talipes equinovarus, Tongu... |
ORPHA:544469 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Short neck, Sensorineural hearing impairment, Alveolar ridge overgrowth, Cleft... |
OMIM:612938 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Micrognathia, Microcephaly, Short n... |
OMIM:616038 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... |
ORPHA:1512 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb... |
ORPHA:404440 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Brachycephaly, Anter... |
ORPHA:247262 |
Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in... |
ORPHA:52429 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Diastema, Open bite, G... |
OMIM:619698 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Conductive hearing impairm... |
ORPHA:254346 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Subcortical cerebral atrophy, High palate, Lumbar hemivertebrae, Abnormal bone ossifi... |
ORPHA:2463 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Short neck, De... |
OMIM:115150 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis... |
OMIM:611812 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Macrocephaly, ... |
ORPHA:1193 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Posteriorly rotated ears, Microcephaly, Hyperlordosis, Clinodactyly... |
OMIM:619980 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Flexion contracture, Short philtrum, Widely spaced teeth, Microdontia, Cl... |
OMIM:619293 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hemivert... |
ORPHA:85284 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai... |
OMIM:150250 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T... |
ORPHA:583 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Microcephaly, Cleft palate, Macr... |
OMIM:181180 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Conductive hearing impairment, Velopharyngeal i... |
ORPHA:199302 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of... |
ORPHA:861 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Cerebral atrophy, Downturned corners of ... |
OMIM:618729 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, B... |
OMIM:619148 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu... |
ORPHA:2502 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Bronchomalacia, Morgagni diaphragmatic hernia, Atelectasis, ... |
OMIM:613177 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... |
OMIM:615948 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Micrognathia, Malabso... |
ORPHA:1225 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Arachnodactyly, Dental crowdi... |
OMIM:615539 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Abnormal peri... |
ORPHA:488632 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, High, narrow palate, Brachycep... |
OMIM:613776 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Microcephaly, Elbow dislocation, Coxa vara, Aplasia/Hypopl... |
ORPHA:1824 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal insufficiency... |
OMIM:129400 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Supernumerary t... |
OMIM:617088 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Sensorineu... |
ORPHA:17 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Edema, Micrognathia, Short neck, Short metatarsal, High palate, Narrow chest, Widely ... |
OMIM:266920 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Microcephaly, ... |
OMIM:612940 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Flat occiput, Micrognathia, Partial agenesis of... |
ORPHA:300570 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait |
OMIM:168600 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Cerebral calcification, Increased intervertebral space, Metaphyseal widening, Irregular vertebral... |
OMIM:607944 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Long thorax, Short philtrum,... |
OMIM:616268 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Microcephaly, Congenital sensorineural hearing impairment, Sensorineural hearing im... |
ORPHA:500159 |
Phaver Syndrome |
|
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Pterygium, Joint stiffne... |
ORPHA:2876 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Scoliosis, Midfa... |
OMIM:617768 |
Ivic Syndrome |
|
Hearing impairment, Joint stiffness, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, H... |
ORPHA:2307 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Midface... |
ORPHA:93258 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, C... |
ORPHA:309282 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, P... |
ORPHA:1101 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Craniosynostosis, Non-midline cleft lip, Split ... |
ORPHA:2117 |
Fanconi Anemia, Complementation Group W |
|
Microcephaly, Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology, Intrauterin... |
OMIM:617784 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... |
OMIM:612953 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... |
ORPHA:99772 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Progres... |
OMIM:615109 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short n... |
ORPHA:263508 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... |
ORPHA:284984 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Microcephaly, Abnormal rib mo... |
ORPHA:2772 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ... |
ORPHA:95699 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Hearing impairment, Brachycephaly, Metacarpal synostosis, Midface retrusion, Brachydactyly |
ORPHA:35099 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Frontal bossing, Sclerotic scapulae, Broad clavicles, Dental m... |
OMIM:269500 |
Distal Duplication 17Q |
|
Micrognathia, Protruding ear, Pectus carinatum, High palate, Short philtrum, Joint laxity, Low-se... |
ORPHA:3379 |
Cdags Syndrome |
|
Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula... |
OMIM:603116 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cle... |
ORPHA:2990 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Bloom Syndrome |
|
Syndactyly, Microcephaly, Agenesis of maxillary lateral incisor, Protruding ear, Hand polydactyly... |
OMIM:210900 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste... |
OMIM:619718 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Turricephaly, Abnormal scapula morphology, Iliac crest serration, Metaphyseal c... |
ORPHA:93317 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Abnormal curvature of th... |
ORPHA:168572 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increas... |
OMIM:616034 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Apl... |
ORPHA:1834 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Frontal polymicrogyria, Focal cortical dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Bro... |
OMIM:614563 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypoplasi... |
OMIM:620157 |
Malan Overgrowth Syndrome |
|
Frontal bossing, Pectus excavatum, Narrow mouth, Scaphocephaly, Plagiocephaly, Slender long bone,... |
ORPHA:420179 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnorma... |
ORPHA:93932 |
Laron Syndrome |
|
Limb undergrowth, Abnormal joint morphology, Short long bone |
OMIM:262500 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Prominent metopic ridge, Single transverse palmar crease, Micrognathia,... |
OMIM:619188 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Pyloric stenosis, Cleft palate, Ulcera... |
OMIM:617137 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Short neck, Brachycephaly, High palate, Clinodactyly... |
OMIM:612582 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Dental crowding, Abnormality of the hand, Micrognathia, Pectus excavatum, Unilateral ... |
ORPHA:476126 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma... |
ORPHA:69087 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Microcephaly, Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Synd... |
OMIM:227330 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... |
ORPHA:436 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Hemangioblastoma |
|
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma |
ORPHA:252054 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum... |
OMIM:610759 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... |
ORPHA:466722 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Hydrocephalus, Abnormal lung lobation, Tracheoesophageal fistula, Duodenal at... |
OMIM:300514 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Pulmonary hypoplasia, Anal atresia |
ORPHA:3027 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Microcephaly, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occ... |
OMIM:619227 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, Short neck, Polyhydramnios, High palate, Biparietal ... |
ORPHA:1308 |
2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Brachycephaly, Protruding ear, Enlarged thorax, High palate, Bilateral single tra... |
ORPHA:261349 |
Orofaciodigital Syndrome Type 14 |
|
Short neck, Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Lobulated tongue,... |
ORPHA:434179 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Microce... |
OMIM:616362 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia |
OMIM:313850 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology |
OMIM:611890 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Grant Syndrome |
|
Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Plantar pits, Orofacial cleft, Long philtrum, Odontogenic keratocysts of... |
ORPHA:77301 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Abnormal cartilage matrix, Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
ORPHA:86822 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Broad hallux, Overlapping toe, Micrognathia, Cerebral ... |
ORPHA:293967 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of th... |
ORPHA:306542 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Abnormal pinna morphology, Tapered finger, Microcephaly, Brachycephaly,... |
ORPHA:352530 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Micrognathia, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, Pericar... |
OMIM:617822 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... |
OMIM:239300 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Widel... |
ORPHA:369891 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar ... |
OMIM:230650 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Micrognathia, Short neck, Hydrops fetalis, Fused teeth, High palate, Narrow chest... |
OMIM:613610 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Abnormal morphology of ulna, Short neck, Pect... |
ORPHA:1340 |
Pentalogy Of Cantrell |
|
Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Cleft palate, Pulmona... |
ORPHA:1335 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Frontal bossing, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submu... |
OMIM:612863 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo... |
ORPHA:3206 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Sandal gap, Macrodontia, Microcephaly, Brachycephaly, Hip dysplasia, ... |
ORPHA:228402 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Pulmonary hypoplasia |
OMIM:263200 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Short thumb, Abnormal thora... |
ORPHA:1708 |
Neuhauser Syndrome |
|
Osteopenia, Pes planus, Frontal bossing, Arachnodactyly, Genu recurvatum, Micrognathia, Microceph... |
OMIM:249310 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pulmonary hypoplasia, Extrapulmonary seques... |
OMIM:200995 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Microcephaly, Short neck, Incre... |
OMIM:609460 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo... |
ORPHA:503 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar verm... |
OMIM:601853 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Potocki-Shaffer Syndrome |
|
Micrognathia, Parietal foramina, Brachycephaly, Downturned corners of mouth, Short philtrum, Decr... |
ORPHA:52022 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Microce... |
ORPHA:1236 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Polyhydramnios, ... |
OMIM:609465 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls |
ORPHA:683 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Parietal foramina... |
OMIM:601224 |
Den Hoed-De Boer-Voisin Syndrome |
|
Brachycephaly, Widely spaced teeth, Amelogenesis imperfecta, 2-3 toe syndactyly, Scoliosis, Midfa... |
OMIM:619229 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Posteriorly rotated ears, Patchy osteosclerosis, Micro... |
OMIM:241410 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, Anotia, High palate, Agenes... |
ORPHA:261112 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hearing impairment, Rib fusion, C... |
ORPHA:261197 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Frontal bossing, Midface retrusion, Flat occiput, Corpus callosum atrophy,... |
OMIM:248500 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con... |
OMIM:300166 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Cleft palate, High palate, Holoprosencephaly, Pulmonary hypoplasia |
OMIM:612530 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebra... |
OMIM:601076 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Smooth philtrum, Tented upper lip vermilion, Microcephaly, Micrognathia, Flexion contracture, Bra... |
OMIM:620240 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Single transverse palmar crease, Edema, Micrognathia, Pectus carinatu... |
OMIM:617527 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall muscula... |
ORPHA:3309 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Wide cranial sutures, Thin upper lip vermilion, Scaphocephaly, Dental malocclusi... |
OMIM:619149 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Posteriorly rotated ears, Single transverse palmar crease, Cranios... |
OMIM:613174 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Micrognathia, Pectus excavatum, Long fingers, Microcephaly, Short neck,... |
OMIM:156610 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd... |
OMIM:106260 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Rocker bottom foot, Micrognathia, Microcephaly, Antecubital pteryg... |
OMIM:616258 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Flat occiput, Recurrent fractures,... |
OMIM:241530 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow palate, Congenital cont... |
OMIM:208150 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Ect... |
ORPHA:2059 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Cerebral calcification, Hydranencephaly, Spina bifida, Micrognathia, Microcepha... |
ORPHA:1393 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Micrognathia, Conical tooth, Oligodontia, High palate, A... |
OMIM:612313 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia |
OMIM:173650 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti... |
ORPHA:2062 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, High... |
ORPHA:436003 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... |
ORPHA:157846 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Tracheal calcification |
OMIM:302960 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Mandibular prognathia, Plagiocephaly, Sandal gap, Narrow palate |
OMIM:615516 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Aplasia/Hypoplasia of the tibia, Meningocele, Brachycephaly, Pat... |
ORPHA:1827 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Micrognathia, Microcephaly, Flexion contracture, Brachycephaly, Narrow palate, An... |
OMIM:614222 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Midface retrusion, Turricephaly, Broad hallux, Micrognathia, Pectus excavatum, Tapere... |
OMIM:620224 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Edema, Microcephaly, Short neck, Kyphosis, Pericardial effusion, Hip dislocation... |
OMIM:608776 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... |
OMIM:220220 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Protruding ear, High palate, Tali... |
ORPHA:169186 |
Marbach-Rustad Progeroid Syndrome |
|
Wormian bones, Femur fracture, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Red... |
OMIM:619322 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S... |
OMIM:611174 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Kyphosis, Progres... |
OMIM:158350 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... |
OMIM:182250 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me... |
OMIM:146510 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Pectus excavatum, 2... |
OMIM:618162 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Short palm, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodact... |
ORPHA:2176 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebra... |
OMIM:216340 |
Dyskeratosis Congenita, X-Linked |
|
Oral leukoplakia, Esophageal stricture, Pulmonary fibrosis, Anal mucosal leukoplakia |
OMIM:305000 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Brachycephaly, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint l... |
OMIM:250250 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... |
OMIM:610217 |
Peho Syndrome |
|
Edema of the dorsum of feet, Tented upper lip vermilion, Edema, Tapered finger, Edema of the dors... |
OMIM:260565 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Short philtrum, Microdontia,... |
OMIM:617360 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Brachycephaly, Downturned ... |
OMIM:619950 |
Igg4-Related Thyroid Disease |
|
Tracheal stenosis, Sialadenitis, Dysphagia |
ORPHA:64744 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus |
ORPHA:363717 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... |
OMIM:609128 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Brachycephaly, Micrognathia |
ORPHA:1514 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration... |
OMIM:157640 |
3Mc Syndrome 1 |
|
Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Microcephaly, Clef... |
OMIM:257920 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... |
ORPHA:3353 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Bronchomalacia, Pulmonary hypoplasia, Ileal atresia |
OMIM:619351 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly, Clinodactyly of the 5th finger |
OMIM:167730 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Microcephaly, Increased skull ossification, Abnor... |
ORPHA:1422 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne... |
ORPHA:1300 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Brachycephaly, Bifid uvula, Dandy-Walker malformation, Joint laxity, Tapered finger, Low-set ears... |
OMIM:300968 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech |
OMIM:619827 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Short neck, Swollen lip, Polyhydramnios, Calcaneovalgus deformity, Neon... |
OMIM:256520 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Brachydactyly, Thin upper lip vermilion, Posteriorly rotate... |
OMIM:601353 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
Image Syndrome |
|
Metaphyseal dysplasia, Frontal bossing, Micromelia, Low-set ears, Intrauterine growth retardation |
ORPHA:85173 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microcephaly, Short thumb, Short ... |
OMIM:609053 |
Intellectual Disability-Strabismus Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, High palate, Agenesis of corpus callosum, Thick vermili... |
ORPHA:363528 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Midface retrusion, Cerebellar vermis hypoplasia, Polyhydramnio... |
ORPHA:1394 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Diaphanospondylodysostosis |
|
Tracheomalacia, Pulmonary hypoplasia, Cleft palate |
OMIM:608022 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... |
OMIM:105830 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypopla... |
ORPHA:2570 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypo... |
OMIM:607597 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Short ... |
ORPHA:1752 |
Loeys-Dietz Syndrome 6 |
|
Pes planus, Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Inte... |
OMIM:619656 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Chopra-Amiel-Gordon Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Brachy... |
OMIM:619504 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Overlapping toe, Flat occiput, Tented upper lip vermilion, Flexion ... |
OMIM:619383 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty... |
ORPHA:2920 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Narrow ... |
OMIM:618268 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat... |
ORPHA:536532 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Esophageal stricture, Pneumothorax, Pneumonia, Gastrointestinal inflammation |
ORPHA:79404 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Microcephaly |
ORPHA:2435 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, External ear malformation, ... |
ORPHA:1647 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture... |
OMIM:615656 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Pectus excavatum, Abnormal globus pallidus morphology, Brachycephaly, Cleft palate,... |
OMIM:618603 |
19P13.13 Microdeletion Syndrome |
|
Brachycephaly, High palate, Macrocephaly, Deep plantar creases, Low-set ears, Narrow mouth, Hypop... |
ORPHA:357001 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep... |
OMIM:612289 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Mandibular prognathia, Short metatarsal, Long philtrum, Short metacarpal, Rhizomelia,... |
OMIM:614813 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Arachnodactyly, Long foot, Microcephaly, Micrognathia, High, narrow palate, Brachyc... |
ORPHA:2707 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High... |
OMIM:616364 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Microcephaly, Submucous cleft... |
OMIM:619680 |
Ritscher-Schinzel Syndrome 4 |
|
Dandy-Walker malformation, Ulnar deviation of the hand, Tapered finger, Hip dislocation, Brachyce... |
OMIM:619435 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Cleft upper lip, Pectus excava... |
OMIM:201180 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
Renal Agenesis |
|
Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Short neck, Abnormal rib morphology, Small hand, Spina bif... |
ORPHA:488434 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Dental crowding, Cutaneous finger syndactyly, Conductive hearing... |
OMIM:219000 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Long toe, Arachnodactyly, Hypoplasia of the maxilla, Sensorine... |
ORPHA:96129 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... |
ORPHA:289176 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced... |
ORPHA:581 |
Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate... |
OMIM:619314 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Micrognathia, Short thumb, Microcephaly, Hypoplasia of the radius, Hearing impairment |
OMIM:613951 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban... |
ORPHA:93256 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Pectus excavatum,... |
ORPHA:1812 |
Craniofrontonasal Syndrome |
|
Short neck, Brachycephaly, Coronal craniosynostosis, Clinodactyly of the 5th finger, Agenesis of ... |
OMIM:304110 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing... |
ORPHA:798 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Protruding ear, Hypoplasia of the brainstem, Widely spaced teeth, Cleft soft palate, Tapered fing... |
ORPHA:268261 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp... |
OMIM:102500 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Distal clavicular thinning, Micromelia, Microceph... |
OMIM:600092 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Co... |
ORPHA:1071 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl... |
OMIM:616580 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Cleft palate, Myopathy, Distal arthrogryposis, High palate, Pulmonar... |
OMIM:618975 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Birk-Barel Syndrome |
|
Microretrognathia, Sacral dimple, Tented upper lip vermilion, Single transverse palmar crease, Hi... |
OMIM:612292 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Brachydactyly, U-Shaped upper lip vermilion, Abnormal pinna m... |
OMIM:610253 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth |
OMIM:276950 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Duodenal ulcer, Posteriorly rotated ears, Arachnodactyly, Femur... |
OMIM:605822 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormality ... |
ORPHA:1794 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, ... |
OMIM:618430 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, High, narrow palate, Increased head circumference, Short philtrum, Widely spaced... |
OMIM:300967 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Brachycephaly, Femoral bowing, Anteriorly placed anus, Conductive hearing impairme... |
OMIM:201750 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Schisis Association |
|
Encephalocele, Micromelia, Microcephaly, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cl... |
ORPHA:63862 |
Distal Triplication 15Q |
|
Hydrocephalus, Flexion contracture, High palate, Pulmonary hypoplasia, Camptodactyly |
ORPHA:314588 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Microcephaly, 2-3 toe syndactyly, Brachycepha... |
ORPHA:3306 |
Primrose Syndrome |
|
Cerebral calcification, Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexi... |
OMIM:259050 |
Penile Agenesis |
|
Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilateral lung agenesis, Pulmonary ... |
ORPHA:49 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thickened calvaria, Metaphyseal dysplasia, Thick upper lip vermilion, Broad femoral neck, Dolicho... |
OMIM:619727 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Generalized joint laxity, B... |
ORPHA:2962 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Microcephaly, Tapered finger, Short umbilical cord, Hypoplasia of the... |
OMIM:618367 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Polydactyly, Talipes equinovarus |
OMIM:613885 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Bilateral single transverse palmar creases, Palpebral edema, Micromelia, Short ... |
ORPHA:50810 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pr... |
ORPHA:534 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Intestinal malrotation, Aplasia of the abdominal wall musculatu... |
ORPHA:2970 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Uplifted earlobe, Tapered finger, Microcephaly, Abnormality of the dentition, Thick ... |
ORPHA:261652 |
Walker-Warburg Syndrome |
|
Posteriorly rotated ears, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pol... |
ORPHA:899 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Brachycephaly, Protrudin... |
OMIM:148050 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Joint stiffness, Abnormality of cartilage of external ear, Brachycephaly, Umbi... |
ORPHA:324313 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with... |
ORPHA:411602 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Macrodontia, Microcephaly, Protruding ear, Plagiocephaly, Downturned corn... |
OMIM:618731 |
Recon Progeroid Syndrome |
|
Joint laxity, Attached earlobe, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pr... |
OMIM:620370 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Edema, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolys... |
ORPHA:324964 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten... |
ORPHA:86818 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth |
OMIM:183300 |
Genitopatellar Syndrome |
|
Hip contracture, Knee flexion contracture, Gastroesophageal reflux, Pulmonary hypoplasia, Arthrog... |
ORPHA:85201 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachycephaly, Orofacial cleft, High palate, Thickened helices, Conductive hearing impairment, Cl... |
OMIM:607872 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Cerebral atrophy |
OMIM:620306 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Aplastic clavicle, Hamartoma of tongue, Postaxial polydactyly, Micr... |
OMIM:616546 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... |
ORPHA:163961 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cerebral white matter atrophy, Multiple joint contractures, Short neck, Abnormal globus pallidus ... |
ORPHA:99646 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Pes cavus, Talipes, Single transverse palmar crease, Microcephaly, Partial agenesis of the corpus... |
ORPHA:79243 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Esophageal stricture, Flexion contracture, Inflammation of the large int... |
ORPHA:2908 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Posteriorly rotated ears, Dental crowding, Single transverse palmar crease, Protruding tongue, Mi... |
OMIM:618106 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High palate, Conductive... |
OMIM:605627 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Hypertrichosis Cubiti |
|
Rhizomelia, Micromelia, Microcephaly, Abnormality of the elbow, Joint hyperflexibility |
ORPHA:2220 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Frontal bossing, Death in infancy, Camptodactyly of finger, Short n... |
ORPHA:93473 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, External ear... |
ORPHA:438216 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Peg-... |
OMIM:610706 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Lo... |
ORPHA:2399 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Micrognathia, Short neck, Tooth malposition, Upper limb u... |
ORPHA:529962 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho... |
OMIM:163200 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
Aymé-Gripp Syndrome |
|
Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered fing... |
ORPHA:1272 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Hydrocephalus, Cleft palate |
ORPHA:163979 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, Gastroesophageal reflux, High palat... |
OMIM:614080 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Hippocampal atrophy, Simple ear, Joint laxity, Dolicho... |
OMIM:619325 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu... |
OMIM:304050 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Deep philtrum, Conductive hearing impairment, Premat... |
ORPHA:99843 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Single transverse palmar crease, Br... |
OMIM:614800 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos... |
OMIM:174300 |
Carey-Fineman-Ziter Syndrome 1 |
|
Micrognathia, Tapered finger, Trismus, Sensorineural hearing impairment, Flexion contracture, Mic... |
OMIM:254940 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Tapered finger, Microtia, Low-set ears, Narrow mouth, Crani... |
OMIM:601088 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Brachydactyly, Extra concha fold, Micrognathia,... |
OMIM:209885 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Overlapping toe, Exaggerated cupid's bow, Single transverse palmar crease... |
ORPHA:254528 |
Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibi... |
ORPHA:85194 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Microcephaly, Narrow mouth, 2-3 toe cutaneous syndactyly, Brachycepha... |
OMIM:300260 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation |
OMIM:207950 |
Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Cleft palate |
OMIM:300712 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Microcephaly, Cleft upper lip, Brachycephaly, Cleft palate, Hypoplasia of the corpus callosum, Sc... |
OMIM:300958 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Downturned co... |
ORPHA:500150 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Arachnodactyly, Edema, Micrognathia, Hiatus hernia, Pectus excavatum, Microcepha... |
OMIM:617729 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Abnorma... |
ORPHA:1830 |
Alg9-Cdg |
|
Villous atrophy, Micrognathia, Short neck, Brachycephaly, Hydrops fetalis, Large fleshy ears, Nar... |
ORPHA:79328 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Brachycephaly, Pectus carinatum, High palate, Short philt... |
ORPHA:3063 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Diastema, Brachycephaly, High palate, Short philtrum,... |
OMIM:609757 |
Trisomy 18 |
|
Pointed helix, Bilateral single transverse palmar creases, Microretrognathia, Low-set, posteriorl... |
ORPHA:3380 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Pectus excavatum, Fractures of the long... |
ORPHA:496641 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus |
ORPHA:1516 |
8Q12 Microduplication Syndrome |
|
Sensorineural hearing impairment, Brachycephaly, Short foot, Everted lower lip vermilion, Narrow ... |
ORPHA:228399 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, S... |
OMIM:613603 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Cavum... |
OMIM:614008 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Nonimmune hydrops fetalis, Micrognathia, Absent thumb, Short thumb, Partial du... |
ORPHA:124 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Narrow mouth... |
OMIM:219150 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Brachycephaly, High pa... |
OMIM:244450 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Talipes, Microcephaly, Sensorineural hearing impairment, Submucous cleft h... |
OMIM:617660 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Postaxial hand polydactyly, Brachycephaly, Abnormal tragus mor... |
ORPHA:66625 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Intestinal malrot... |
ORPHA:457193 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Short neck, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted lowe... |
OMIM:616789 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Brachycephaly, Protruding ear, Oligodontia, High palate, Short... |
OMIM:309590 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Shor... |
ORPHA:2044 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Copper beaten skull, H... |
OMIM:617063 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Kyphoscoliosis, Microcephaly, Cleft upper lip, Brachycephaly, ... |
OMIM:601701 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Partial ... |
OMIM:619512 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Vertebral compression fracture, R... |
OMIM:112240 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e... |
OMIM:614816 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Abnormal lung morphology, Pa... |
ORPHA:185 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Micromelia, Short neck, Brachycephaly, Downturned corn... |
ORPHA:199 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Sacral dimple, Micrognathia, Microcephaly, Short neck, Postaxi... |
ORPHA:1620 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, Generalized joint laxity, B... |
OMIM:619472 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Spina ... |
ORPHA:1120 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral ... |
ORPHA:85165 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... |
OMIM:118100 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:380 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly |
OMIM:602501 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Frontal bossing, Abnormal rib morphology, Hemivertebrae, Low-set ears, Ma... |
OMIM:118450 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... |
OMIM:301043 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Periventricular cysts, Abnormal form of the verteb... |
OMIM:194190 |
Sifrim-Hitz-Weiss Syndrome |
|
Trigonocephaly, Tapered finger, Cupped ear, Flat acetabular roof, Macrocephaly, Anteriorly placed... |
OMIM:617159 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Polyhydramnios, Short neck, High, narrow palat... |
ORPHA:373 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... |
OMIM:611561 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Kagami-Ogata Syndrome |
|
Frontal bossing, Pursed lips, Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Polyhydramnio... |
ORPHA:254519 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk... |
OMIM:611134 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
6Q Terminal Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Talipes calcaneovalgus, Joint laxity, Aplasia/Hypo... |
ORPHA:75857 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Microcephaly, Cle... |
OMIM:614749 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Narrow mouth, Pierre-Robin sequence, Brachycephaly, Downturned corners ... |
OMIM:611961 |
Fucosidosis |
|
Barrel-shaped chest, Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlo... |
OMIM:230000 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Wide ante... |
OMIM:614886 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Protruding ear... |
OMIM:613458 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Cleft palate |
ORPHA:3305 |
Septopreoptic Holoprosencephaly |
|
Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal rib mo... |
ORPHA:280195 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Microcephaly, Abnormality of the ... |
ORPHA:513456 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia, Hearing im... |
ORPHA:195 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Hydrops fetalis, Narrow chest, Absent or minimally ossified vertebral b... |
ORPHA:93271 |
Coach Syndrome 2 |
|
Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity |
ORPHA:2828 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Pectus carinatum, Anterior beaking of lumbar vertebrae, Chronic otitis med... |
ORPHA:93 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking |
ORPHA:778 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus |
OMIM:617542 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1046 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Brachycephaly, Ankle clonus, High palate, Pes valgus, Scoliosis, Recurrent otitis ... |
OMIM:619995 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Polyhydramnios, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius,... |
OMIM:603467 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Frontal bossing, Posteriorly rotated ears, Down-sloping shoulders, Micrognathi... |
ORPHA:1974 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Sensorineural hearing impairment, Short toe, Brachycep... |
OMIM:600430 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:2181 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Gapo Syndrome |
|
Frontal bossing, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micr... |
OMIM:230740 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pectus excavatum, Pyloric stenosis, ... |
ORPHA:314575 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p... |
OMIM:619127 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Beck-Fahrner Syndrome |
|
Pes planus, Microcephaly, Brachycephaly, Protruding ear, Hip dysplasia, High palate, Macrocephaly... |
OMIM:618798 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Microcephaly, Short neck, Microtia, Submucous cleft soft palate,... |
ORPHA:2282 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate... |
OMIM:273395 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Short neck, Abnormal soft p... |
ORPHA:884 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Loc... |
ORPHA:73223 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Sub... |
OMIM:618971 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Kyphosis, Clinodactyl... |
ORPHA:1724 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Broad metacarpals, Tapered finger, Hyperlordosis, Cleft lip, Thick vermilion border, ... |
OMIM:301066 |
Glutamine Deficiency, Congenital |
|
Micromelia, Flexion contracture, Thin vermilion border, Hypoplasia of the corpus callosum, Low-se... |
OMIM:610015 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Pulmonary hypoplasia, Anal atresia, Rectovaginal fistula |
OMIM:236700 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Pectus excavatum, Kyphosis, Sensorineural hearing impairment, High palate, Short ph... |
OMIM:609944 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:105400 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty... |
ORPHA:397590 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Recta... |
ORPHA:2538 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Otitis media, Conductive hearing imp... |
ORPHA:353281 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate,... |
ORPHA:453499 |
Down Syndrome |
|
Short neck, Brachycephaly, Downturned corners of mouth, Clinodactyly of the 5th finger, Conductiv... |
ORPHA:870 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Midface retrusion, Micrognathia, Abnormality of the elbow, Small hand, Bra... |
ORPHA:85276 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Microcephaly, Abnormality of... |
ORPHA:3130 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Polyhydramnios, Rhizomelic arm shortening, Posterior plagiocephaly, Abnormal fibu... |
ORPHA:96190 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Geleophysic Dysplasia 1 |
|
Tracheal stenosis, Joint contracture of the hand, Wrist flexion contracture, Camptodactyly of finger |
OMIM:231050 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Uplifted earlobe, Micrognathia, Pectus excavatum, Wide anterior fontane... |
OMIM:618548 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Death in infancy, Thickened ribs, Joint stiffness, Short neck, Kyphosis, Gingiva... |
OMIM:230500 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Single transverse palmar crease... |
OMIM:223370 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Talipes equinovarus |
OMIM:614209 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Microcephaly, Short neck, Deep philt... |
ORPHA:1675 |
Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Osteoporosis, Brachycephaly,... |
OMIM:309400 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... |
ORPHA:401973 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Congenital Myopathy 13 |
|
Kyphoscoliosis, Micrognathia, Microcephaly, Flexion contracture, Brachycephaly, Cleft palate, Dow... |
OMIM:255995 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Mandibular prognathia, Pes planus, Overlapping toe, Dental crowding, Kyphoscoliosis... |
OMIM:617402 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyp... |
OMIM:242900 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the vertebral column, High p... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the vertebral column, High p... |
ORPHA:353277 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Cleft palate... |
ORPHA:1692 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm... |
ORPHA:2907 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bil... |
OMIM:601186 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Overlapping toe, Abnormality of the dentition, Carious teeth, Dysplastic corpus ... |
ORPHA:363444 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Microcephaly, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Microtia, Limb under... |
ORPHA:319675 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... |
OMIM:609454 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Pneumothorax, Pulmonary hypoplasia |
OMIM:619879 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, Gait distur... |
ORPHA:309854 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... |
ORPHA:306674 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Micrognathia, Microcephaly, Narrow mouth, Thin corpus callosum, Macroglo... |
OMIM:613457 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Joint contractur... |
OMIM:229850 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation |
OMIM:225790 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Cloverleaf skull, Micromelia |
OMIM:156830 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Microcephaly, Brachycephaly, Symphalangism affecting the phalanges of the hand, ... |
ORPHA:1292 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Missing ribs, Short neck, Esophageal atresia, Tracheoesophageal fistula, Brachyce... |
OMIM:619859 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2260 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Micro... |
ORPHA:521445 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Thin upper lip vermilion, Metatarsus adductus, Cubitus valgus, Sensorineura... |
OMIM:611962 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, M... |
ORPHA:782 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Microcephaly, Flexion contract... |
OMIM:301072 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Short philtrum, Clinodacty... |
ORPHA:1449 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Agenesis ... |
ORPHA:261323 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Smooth philtrum, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the pons, Microcephaly, Sens... |
OMIM:300749 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Isolated Childhood Apraxia Of Speech |
|
Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph... |
ORPHA:209908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... |
OMIM:613154 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia, Anal atresia |
OMIM:271520 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Frontal bossing, Thin upper lip vermilion, Micrognathia, Microcephaly, Cleft lip, Sen... |
OMIM:301022 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Polyhydramnios, Micrognathia, Microcephaly, Su... |
ORPHA:3047 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus |
ORPHA:251046 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb p... |
ORPHA:59315 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Pes planus... |
OMIM:614557 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Frontal bossing, Dental crowding, Micrognathia, Kyphosis, Increased femoral anteversion, Plagioce... |
OMIM:619005 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... |
ORPHA:667 |
Gaucher Disease, Perinatal Lethal |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Dysphagia |
OMIM:608013 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Meningocele, Pulmonary artery hypop... |
ORPHA:991 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Clinodact... |
OMIM:113620 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Microcephaly, Brachycephaly, Hypoplastic vertebral bodies, Plagioce... |
ORPHA:2163 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ... |
OMIM:616602 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... |
ORPHA:369837 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cerebellar dysplasia, Death in infancy, Hydrocephalus, Partial absence of cerebell... |
OMIM:613150 |
Osteogenesis Imperfecta, Type Xv |
|
Schizencephaly, Recurrent fractures, Hypoplasia of the pons, Thin ribs, Platyspondyly, Bowing of ... |
OMIM:615220 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Met... |
OMIM:259770 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Widely spa... |
OMIM:619539 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Death in childhood |
OMIM:269920 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Narrow foot, Protruding ear, High palate, Sho... |
OMIM:309500 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Polyhydramnios, Micrognathia, Structural foot deformity,... |
ORPHA:1662 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Pulmonary hypoplasia |
OMIM:231680 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia, Dysphagia |
OMIM:615636 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Thick vermilion border, Hypoplasia of the corpus callosum, Macrodontia of permanent maxillary cen... |
OMIM:620114 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Abnormal metaphysis morphology, Limb undergrowth, Narrow chest |
ORPHA:1861 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Micrognat... |
ORPHA:79474 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Low-set ears, T... |
OMIM:619910 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag... |
OMIM:619103 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... |
ORPHA:254892 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Protruding tongue, High, narrow palate, Macroglossia, High palate, Pulmonary hypoplasia, Dysphagia |
OMIM:214100 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Intestinal malrotation, Pulmonary hypoplasia |
OMIM:208540 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, 2-3 toe syndactyly,... |
OMIM:261990 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna |
OMIM:276822 |
Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Microcephaly, Cleft upp... |
OMIM:615465 |
Craniofacial Dyssynostosis With Short Stature |
|
Chiari type I malformation, Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin... |
ORPHA:371428 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Ascites, Decreased skull ossif... |
OMIM:602361 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Brachycep... |
OMIM:614976 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Thin upper lip vermilion, Lumbar hyperlordosis, Broad hallux, Sandal gap, Dental... |
OMIM:616078 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Posteriorly rotated ears, Sandal gap, Microcephaly, Small hand, Brach... |
OMIM:618885 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... |
OMIM:164210 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Brachycephaly, ... |
OMIM:612474 |
Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Hydrocephalus, Esophageal varix, Pulmonary artery atr... |
ORPHA:974 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Lymphatic Malformation 6 |
|
Generalized edema, Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Edema, Mi... |
OMIM:616843 |
Meester-Loeys Syndrome |
|
Relative macrocephaly, Pes planus, Joint dislocation, Frontal bossing, Arachnodactyly, Dolichocep... |
OMIM:300989 |
Cardiac-Urogenital Syndrome |
|
Bronchomalacia, Intestinal malrotation, Tracheomalacia, Congenital diaphragmatic hernia, Partial ... |
OMIM:618280 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis |
OMIM:617892 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Kleefstra Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Brachycephaly, Downturned corners of mouth, Th... |
ORPHA:261494 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Supernumerary tooth, Sensorineural hearing impairment, Aplasia of th... |
ORPHA:90024 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:453504 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Abnormal pinna morphology, Single transverse palmar crease, Microcephaly... |
ORPHA:495818 |
Faundes-Banka Syndrome |
|
Pes planus, Frontal bossing, Thin upper lip vermilion, Fetal ascites, Micrognathia, Cupped ear, C... |
OMIM:619376 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... |
ORPHA:352665 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation |
OMIM:614219 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, Cardiac total anom... |
OMIM:608978 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Spontaneous pneumothorax, Recurrent pneumonia, E... |
ORPHA:731 |
Charge Syndrome |
|
Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, A... |
ORPHA:138 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Short philtrum, Everted lower li... |
OMIM:601499 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced bone mineral density, Long fibula... |
ORPHA:935 |
Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Brachycephaly, Protruding ear, H... |
OMIM:607932 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Dysplastic corpus cal... |
ORPHA:544488 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re... |
OMIM:601104 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Duplication of the distal phalanx of the hallux, P... |
OMIM:180750 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Missing r... |
OMIM:613686 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Pulmonary edema, Edema, Polyhydramnios, ... |
ORPHA:79330 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognath... |
OMIM:150230 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Kyph... |
OMIM:619244 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261537 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Holoprosencephaly, Hydrocephalus, Tracheoesophageal fistula |
ORPHA:77298 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Beaulieu-Boycott-Innes Syndrome |
|
Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Dental malocclusion |
OMIM:613680 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... |
OMIM:617247 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Microcephaly, Flexion contract... |
OMIM:619321 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Bilateral single transverse palmar c... |
ORPHA:264200 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Cerebral white matter atrophy, Microcephaly, Kyphosis, Flexion contracture... |
ORPHA:500055 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Polyhydramnios, Thin ribs, High palate, Neonatal death, Retrognathia, Joint hyp... |
OMIM:300219 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, P... |
ORPHA:137634 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Polyhydramnios, Brachycephaly, Widely spaced teeth, Clinoda... |
ORPHA:709 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology... |
ORPHA:217093 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Reduced cerebral white matter volume, Brachycephaly, Palmoplantar hyperkeratosi... |
OMIM:280000 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia |
OMIM:613706 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:2152 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly |
OMIM:217090 |
Digeorge Syndrome |
|
Pilonidal sinus, Micrognathia, Microcephaly, High, narrow palate, Cleft palate, Umbilical hernia,... |
OMIM:188400 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Microcephaly, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula,... |
OMIM:301030 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus |
ORPHA:99947 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co... |
ORPHA:3042 |
Lig4 Syndrome |
|
Microcephaly, Malabsorption, Micrognathia, Brachycephaly, Thin vermilion border, Biparietal narro... |
ORPHA:99812 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Adnp Syndrome |
|
Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Protruding ear, Advan... |
ORPHA:404448 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia,... |
OMIM:270400 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Frontal bossing, Diffuse cerebral atrophy, Microcephaly, Micrognathia, Plagiocephaly, Secondary m... |
OMIM:617193 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Polyhydramnios, Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly |
ORPHA:60040 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Microcephaly, Hypoplasia of th... |
OMIM:129900 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Cerebellar vermis hypoplasia, Brachycephaly, Abnormal per... |
ORPHA:480880 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sensorineural ... |
ORPHA:217085 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cerebral calcification, Micrognathia, Prominent floating ribs, Basal ganglia calcification, Brach... |
ORPHA:2785 |
Shwachman-Diamond Syndrome 2 |
|
Death in infancy, Anterior rib cupping, Microcephaly, Metaphyseal widening, Death in childhood, H... |
OMIM:617941 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus |
ORPHA:398189 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly |
OMIM:615630 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Esophageal atresia, Short thumb... |
OMIM:192350 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Flexion contracture, High palate, Anomalous tracheal cartilage |
ORPHA:35173 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Velocardiofacial Syndrome |
|
Talipes, Abnormality of the hand, Microcephaly, Velopharyngeal insufficiency, Submucous cleft har... |
OMIM:192430 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Hypoplastic sacrum, Selective tooth agene... |
OMIM:604292 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Short neck, Tr... |
OMIM:614083 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph... |
OMIM:154500 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Esophageal varix |
OMIM:232500 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Brachydactyly, Sacral dimple, Dental crowding, Polyhydramnios,... |
OMIM:617157 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... |
ORPHA:3016 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Intestinal malrotation, Camptodactyly of finger, Large placenta, Hydroce... |
OMIM:249000 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
B4Galt1-Cdg |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:79332 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Holoprosencephaly 7 |
|
Flat occiput, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Parietal boss... |
OMIM:610828 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Brachycephaly, Narrow palate, Cleft p... |
OMIM:618223 |
Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261552 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carinatum, ... |
OMIM:619525 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Enlarged cerebellum |
ORPHA:65285 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism |
ORPHA:1926 |
Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palm... |
ORPHA:83617 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Recurrent pneumonia, Bronchi... |
ORPHA:980 |
Joubert Syndrome 14 |
|
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Malar flattening |
OMIM:614424 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Abnormal pinna morphology, Arachnodactyly, Micrognathia, Pectus exc... |
OMIM:614437 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalu... |
OMIM:619895 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Bradykinesia, Babinski sign, Spastic tetraparesis |
OMIM:614924 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly |
OMIM:272200 |
Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Hydrocephalus |
OMIM:617244 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebellar atrophy, Death in infancy, Hydrocephalus, Ventriculomegaly |
OMIM:614576 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, Protruding ear, High palate, Long phi... |
OMIM:601776 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... |
ORPHA:99050 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Thin upper lip vermilion, Cerebral white matter hypoplasia, Tapered finger, Shor... |
OMIM:616728 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Hydrocephalus, Cerebellar dysplasia |
ORPHA:8 |
Tetrasomy 9P |
|
Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... |
ORPHA:3310 |
Laryngomalacia |
|
Abnormal tracheal morphology |
OMIM:150280 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar cyst |
OMIM:616538 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus |
ORPHA:2701 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Keutel Syndrome |
|
Sinusitis, Calcification of the auricular cartilage, Cerebral calcification, Short hallux, Miscar... |
OMIM:245150 |
Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Microtia, Hypopla... |
ORPHA:920 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Hypohidrotic Ectodermal Dysplasia |
|
Frontal bossing, Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia ... |
ORPHA:238468 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Structural foot deformity, Protruding ear, Hypoplasia of the brainst... |
ORPHA:464306 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn... |
ORPHA:60030 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Flexion contracture, Pulmonary hypoplasia |
OMIM:308050 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Aspartylglucosaminuria |
|
Joint laxity, Microcephaly, Kyphosis, Hypoplastic frontal sinuses, Thick lower lip vermilion, Bra... |
OMIM:208400 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Hemimegalencephaly |
|
Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white... |
ORPHA:99802 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616355 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Diastasis recti, Esophageal atresia, Pulmonary artery stenosis, Partial a... |
OMIM:265380 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary window, Pulmonary artery hypoplasia, Aplasia of the left hemidiaphragm, Pulmonary ... |
OMIM:620025 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Absent radius, Rectal atresi... |
OMIM:115470 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Microcephaly, Sensorineural hearing impairment, Tooth malposition, Simplified gyral pattern, Limb... |
OMIM:616541 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Tapered finger,... |
OMIM:619480 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Perive... |
OMIM:309000 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Pectus excavatum, Short toe, Brachycephaly, Orofacial cleft, Long philtrum, Th... |
ORPHA:1519 |
Oxoglutaric Aciduria |
|
Hydrocephalus |
ORPHA:31 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Death in... |
OMIM:614643 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness |
ORPHA:1345 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Plummer-Vinson Syndrome |
|
Glossitis, Tongue atrophy, Esophageal web, Dysphagia |
ORPHA:54028 |
Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... |
OMIM:304340 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Esophageal varix, Abnormal muscle glycogen content,... |
ORPHA:367 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... |
OMIM:122880 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Short neck, Brachycephaly, Protruding ear, P... |
OMIM:620330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Cerebellar hypoplasia |
OMIM:615249 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Subcortical cerebral atrophy, Abnormal vertebral morphology, Agenesis of corpus callosum, Abnorma... |
ORPHA:2273 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Bifid tongue, Pulmonary hypoplasia, Cleft palate |
ORPHA:1596 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:614846 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Tented upper lip vermilion, Single trans... |
OMIM:601803 |
Down Syndrome |
|
Joint laxity, Short palm, Aganglionic megacolon, Sandal gap, Single transverse palmar crease, Pro... |
OMIM:190685 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognathia, Rhi... |
ORPHA:397715 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... |
ORPHA:63259 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Esophageal varix |
OMIM:216360 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Congenital diaphragmatic hernia, Anal atresia, Cleft palate |
ORPHA:95706 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontoc... |
ORPHA:457284 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Frontal bossing, Lymphedema |
OMIM:300291 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
1P36 Deletion Syndrome |
|
Brachycephaly, Clinodactyly of the 5th finger, Conductive hearing impairment, Agenesis of corpus ... |
ORPHA:1606 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Midface retrusion, Long foot, Abnormal thumb morphology, Metatarsus adductus, Sensorineural heari... |
ORPHA:500095 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Dy... |
OMIM:608091 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Anterior rib cupping, Horizontal inferior border of scapula, Abnormal pelvic girdle bo... |
OMIM:102700 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... |
ORPHA:3384 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:600274 |
Mend Syndrome |
|
Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Hydrocephalus, 2-3 ... |
OMIM:300960 |
Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Malrotation of small bowel, Knee flexion contracture, Anteriorly ... |
OMIM:606170 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft hard palate, Absent nasal sep... |
OMIM:157170 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar atrophy, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia |
OMIM:618590 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:2318 |
3C Syndrome |
|
Death in infancy, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation,... |
ORPHA:7 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Hypoplasia of the radius, Clinodactyly of the 5th finge... |
ORPHA:140952 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment |
ORPHA:2578 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Eosinophilic infiltration of the es... |
OMIM:609192 |
Peho Syndrome |
|
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly |
ORPHA:2836 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi... |
OMIM:616263 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:220497 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Edema, Malabsorption, Abnormal sacroiliac joint morphology, A... |
ORPHA:793 |
Ogden Syndrome |
|
Torticollis, Pulmonary artery stenosis, Narrow palate, High palate, Pulmonary hypoplasia, Dysphag... |
OMIM:300855 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:614969 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Microcephaly, Submucous cleft hard palate, Flexion contracture, Cerebral atrophy, Ankle clonus, H... |
OMIM:618891 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:620156 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:475 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... |
ORPHA:2754 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus |
ORPHA:381 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Micrognathia, High palate, Agenesis of corpus callosum, Syndactyly, H... |
OMIM:619488 |
Rabin-Pappas Syndrome |
|
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia |
OMIM:620155 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ... |
OMIM:119500 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Frontal bossing, Optic nerve hypoplasia, Missing ribs, Microcephaly, Esophageal... |
OMIM:206900 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Clinodactyly of the 5t... |
ORPHA:466791 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... |
ORPHA:276244 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormal parotid gland morphology, Abnormal ... |
ORPHA:252164 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Microcephaly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, S... |
ORPHA:2519 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Dental crowding, Ankle flexion contracture, Elbow flexion contracture, ... |
OMIM:618175 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar cyst |
OMIM:253800 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Craniosynostosis, Aplasia/Hypoplasia involving bones of the s... |
ORPHA:1521 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, Rib fusion, Cone... |
OMIM:157800 |
Stromme Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Stillbirth, Cerebellar hypoplasia |
OMIM:243605 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Arthrogryposis multiplex congenita, Congenital pyloric atresia |
OMIM:226730 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:97339 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus |
ORPHA:2720 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Esophageal varix, Abnormal pulmonary interstitial morphology, Gastroesoph... |
OMIM:613658 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Palpebral edema, Abnormal cortical gyration, Narrow mouth, Thick lower lip vermilion, ... |
ORPHA:314647 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Camptodactyly of finger, Aplasia/... |
ORPHA:2092 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:220493 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Frontal bossing, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hyp... |
OMIM:305100 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Tympanosclerosis, Enamel hypoplasia, Malabsorption, Atrophic gastritis |
OMIM:240300 |
Dpagt1-Cdg |
|
Flexion contracture, Pulmonary hypoplasia, Camptodactyly |
ORPHA:86309 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Chiari malformation |
ORPHA:93259 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Hydrocephalus, Cerebellar hypopl... |
OMIM:236670 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Mal... |
OMIM:229400 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Abnormal cerebellum morphology, Hydrocephalus, C... |
ORPHA:2356 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2169 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease, Vertigo, Esop... |
OMIM:301068 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:238769 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hydrocephalus, Esophageal varix, Abnormal pulmonary interstitial morphology, Gastric ulcer, Pulmo... |
ORPHA:2072 |
Gardner Syndrome |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:79665 |
Isolated Exencephaly |
|
Polyhydramnios, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Low-set ears, ... |
ORPHA:563612 |
Emanuel Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:609029 |
Tooth Agenesis, Selective, 4 |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr... |
OMIM:150400 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix, Steatorrhea |
OMIM:278000 |
Emanuel Syndrome |
|
Hydrocephalus, Chiari malformation, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:96170 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:613001 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl... |
ORPHA:3426 |
Microsporidiosis |
|
Myositis, Pneumonia, Bronchitis, Abnormal tracheal morphology, Bronchiolitis, Glossitis |
ORPHA:2552 |
Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Agenesis of corpus c... |
ORPHA:857 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hypoplastic pelvis, Hyperplasi... |
OMIM:612731 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes... |
OMIM:600145 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
Choanal Atresia |
|
Chronic sinusitis, Polydactyly |
ORPHA:137914 |
Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Hydrocephalus, Polydactyly |
ORPHA:93400 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ... |
ORPHA:2250 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Deep palmar crease, Pol... |
OMIM:247200 |
Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia |
ORPHA:2268 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus |
OMIM:619320 |
Humeroradial Synostosis |
|
Brachycephaly, Small earlobe, Humeroradial synostosis, Microtia |
OMIM:236400 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hydrocephalus |
OMIM:259710 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:608627 |
Medulloblastoma |
|
Hydrocephalus, Cerebellar calcifications, Cerebellar cyst |
ORPHA:616 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Occipital encephalocele, Hydrocephalus, Cerebellar vermis h... |
ORPHA:1454 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Micrognathia |
ORPHA:314655 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood |
OMIM:612301 |
Tenorio Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... |
ORPHA:733 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Esophageal varix, Hepatocellular adenoma, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Holoprosencephaly |
|
Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Spinal dysraphism, Aplasia/Hypopla... |
ORPHA:2162 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... |
ORPHA:247806 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Microcephaly, Pectus excavatu... |
OMIM:235730 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendon contracture, Cere... |
ORPHA:404454 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus |
ORPHA:398124 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Umbilical hernia |
ORPHA:2166 |
Feingold Syndrome |
|
Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas... |
ORPHA:3097 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Microcephaly, Sensorineural hearing impairment, Flexion contracture,... |
ORPHA:93924 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus |
ORPHA:2969 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Hydrocephalus |
OMIM:104350 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Normal pressure hydrocephalus |
OMIM:620351 |
Trisomy 17P |
|
Hydrocephalus |
ORPHA:261290 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Microcephaly, Cleft palate, Orofacial cleft, Short philtrum, Scoliosi... |
ORPHA:280200 |
Culler-Jones Syndrome |
|
Postaxial polydactyly, Midface retrusion, Cleft palate, Cleft upper lip |
OMIM:615849 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus |
ORPHA:2075 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hydrocephalus |
OMIM:259700 |
Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord |
ORPHA:79139 |
Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Cleft palate |
OMIM:610536 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus |
ORPHA:1555 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus |
ORPHA:585 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus |
OMIM:619951 |
Pmm2-Cdg |
|
Osteopenia, Mandibular prognathia, Multiple joint contractures, Cerebellar vermis hypoplasia, Lym... |
ORPHA:79318 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Esophageal varix, Recurrent sinusitis |
OMIM:615688 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Chiari malformation |
ORPHA:3205 |
Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Hydrocephalus |
OMIM:309900 |
Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Abnormal foot morphology, Abnormal rib morpho... |
ORPHA:1666 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Chiari malformation, Ventriculomegaly |
OMIM:123790 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis |
OMIM:615911 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Cerebellar vermis hypoplasia |
ORPHA:157 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Stillbirth, Ventriculomegaly |
OMIM:259720 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus |
ORPHA:91348 |
Bardet-Biedl Syndrome 1 |
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Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly |
ORPHA:228308 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Lateral ventricular asymmetry, Hydrocephalus |
OMIM:616914 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology |
ORPHA:100070 |
Fanconi Anemia, Complementation Group D2 |
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Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula |
OMIM:227646 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Long toe, Pes planus, Posteriorly rotated ears, Hearing impairment, Microcephaly, Long fingers, P... |
OMIM:613355 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
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Hydrocephalus, Ventriculomegaly |
ORPHA:395 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
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Postaxial polydactyly |
OMIM:615824 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Hereditary Hemorrhagic Telangiectasia |
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Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:774 |
Helsmoortel-Van Der Aa Syndrome |
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Broad hallux, Sandal gap, Tapered finger, Carious teeth, Small hand, Genu valgum, Polydactyly, Cl... |
OMIM:615873 |
X-Linked Cerebral Adrenoleukodystrophy |
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Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Whipple Disease |
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Hydrocephalus |
ORPHA:3452 |
Monosomy 18Q |
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Hydrocephalus, Cerebellar hypoplasia |
ORPHA:1600 |
Glomuvenous Malformation |
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Gastrointestinal arteriovenous malformation, Abnormal tracheal morphology |
ORPHA:83454 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Esophageal varix, High palate |
ORPHA:394 |
Hurler Syndrome |
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Umbilical hernia, Hydrocephalus |
OMIM:607014 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Caroli Disease |
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Cholangiocarcinoma, Esophageal varix |
ORPHA:53035 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Microtia With Meatal Atresia And Conductive Deafness |
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Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment |
OMIM:251800 |
Renal, Genital, And Middle Ear Anomalies |
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Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Neurooculorenal Syndrome |
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Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Ventric... |
OMIM:620305 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus |
OMIM:244400 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:637 |
Desmosterolosis |
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Hydrocephalus, Ventriculomegaly |
OMIM:602398 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology, Edema |
ORPHA:97330 |
Feingold Syndrome Type 1 |
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Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Congenital Total Pulmonary Venous Return Anomaly |
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Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona... |
ORPHA:99125 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Senior-Loken Syndrome 8 |
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Polydactyly |
OMIM:616307 |
Axenfeld-Rieger Syndrome, Type 1 |
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Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... |
OMIM:180500 |
Arima Syndrome |
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Occipital meningocele, Esophageal varix |
OMIM:243910 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Cerebellar atrophy, Ventriculomegaly |
OMIM:617011 |
Rabson-Mendenhall Syndrome |
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Mandibular prognathia, Advanced eruption of teeth, Polydactyly |
ORPHA:769 |
Wilson Disease |
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Limb muscle weakness, Esophageal varix, Dysphagia, Hepatocellular carcinoma |
OMIM:277900 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Hydrocephalus |
ORPHA:220295 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal spinal cord morphology |
ORPHA:88628 |
Knobloch Syndrome |
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Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar cyst |
OMIM:253280 |
Bardet-Biedl Syndrome 20 |
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Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Senior-Boichis Syndrome |
|
Esophageal varix |
ORPHA:84081 |
Caroli Syndrome |
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Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis |
ORPHA:480520 |
Cardiac Diverticulum |
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Umbilical hernia, Aplasia/Hypoplasia of the sternum |
ORPHA:1686 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology |
OMIM:614298 |
Alexander Disease |
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Aqueductal stenosis, Hydrocephalus |
ORPHA:58 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Anencephaly, Hydr... |
ORPHA:2369 |
Mucopolysaccharidosis Type 1 |
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Hydrocephalus |
ORPHA:579 |
1Q21.1 Microdeletion Syndrome |
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Hydrocephalus |
ORPHA:250989 |
Meckel Syndrome |
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Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation |
ORPHA:564 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Steatorrhea |
ORPHA:275761 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Hydrocephalus |
OMIM:277400 |
H Syndrome |
|
Hydrocephalus |
ORPHA:168569 |
Isotretinoin-Like Syndrome |
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Hydrocephalus |
ORPHA:2306 |
Ane Syndrome |
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Motor neuron atrophy |
ORPHA:157954 |
Maternal Phenylketonuria |
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Esophageal atresia, High palate |
ORPHA:2209 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Recurrent respiratory infections, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Bronchial... |
OMIM:619534 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus |
ORPHA:268249 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Communicating hydrocephalus |
OMIM:616084 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus |
ORPHA:1780 |
Acute Disseminated Encephalomyelitis |
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Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Histiocytoid Cardiomyopathy |
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Cerebellar malformation, Hydrocephalus |
ORPHA:137675 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Postaxial polydactyly, Micrognathia |
OMIM:618460 |
Jacobsen Syndrome |
|
Hydrocephalus, Holoprosencephaly |
OMIM:147791 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Hypoglycorrhachia |
ORPHA:168577 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Retrognathia, Polydactyly |
OMIM:619869 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
Coccidioidomycosis |
|
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr... |
ORPHA:228123 |
Hajdu-Cheney Syndrome |
|
Umbilical hernia, Hydrocephalus, Chiari malformation |
ORPHA:955 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Heterotaxy, Visceral, 1, X-Linked |
|
Aqueductal stenosis, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus |
OMIM:306955 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus |
ORPHA:137667 |
Oeis Complex |
|
Myelomeningocele, Chiari malformation, Hydrocephalus |
OMIM:258040 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Colpocephaly |
OMIM:309801 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hydrocephalus |
ORPHA:505248 |
Craniopharyngioma |
|
Hydrocephalus |
ORPHA:54595 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... |
ORPHA:573278 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Chiari type I malformation, Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Chiari type I malformation, Hydrocephalus, Ventriculomegaly, Spina bifida |
ORPHA:363958 |
Costello Syndrome |
|
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly |
OMIM:218040 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus |
ORPHA:79282 |
Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
Amoebiasis Due To Free-Living Amoebae |
|
Respiratory tract infection, Abnormal spinal cord morphology, Pneumonia |
ORPHA:68 |
Kabuki Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2322 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus |
OMIM:261740 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly |
ORPHA:457359 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Hydrocephalus |
ORPHA:261337 |
Meningioma |
|
Abnormal cerebellum morphology, Hydrocephalus |
ORPHA:2495 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:216400 |
Gaucher Disease |
|
Death in infancy, Hydrocephalus, Ventriculomegaly |
ORPHA:355 |
Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Cerebellar calcifications, Death in childhood |
OMIM:133540 |
22Q11.2 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical hernia |
ORPHA:567 |
Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration |
OMIM:176690 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Oral-pharyngeal dysphagia, Esophageal atresia, Di... |
ORPHA:506358 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Anal fissure, Flexion contracture, Gastrointestinal inflammation, Gastroe... |
ORPHA:79408 |
Lymphangioleiomyomatosis |
|
Hydrocephalus |
ORPHA:538 |
Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly |
OMIM:619475 |
Legius Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia |
ORPHA:137605 |
Primary Sjögren Syndrome |
|
Lymphocytic interstitial pneumonia, Bronchitis, Abnormal spinal cord morphology, Abnormal pulmona... |
ORPHA:289390 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis |
ORPHA:2396 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Myelomeningocele, Chiari malformation, Umbilical hernia, Spina bifida occulta |
OMIM:305600 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Holoprosencephaly |
ORPHA:95494 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:175780 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus |
ORPHA:2556 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Umbilical hernia |
ORPHA:580 |
Neurofibromatosis Type 1 |
|
Hydrocephalus |
ORPHA:636 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Subependymal nodules |
ORPHA:805 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:147920 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Hydrocephalus, Holoprosencephaly |
OMIM:107480 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydrocephalus |
ORPHA:363700 |
Okamoto Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:2729 |
Alström Syndrome |
|
Recurrent upper respiratory tract infections, Esophageal varix, Recurrent pneumonia, Gastroesopha... |
ORPHA:64 |