| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Fryns Microphthalmia Syndrome |
|
Facial cleft, Neural tube defect |
OMIM:600776 |
| Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Short femur, Anterior encephalocele, Coloboma, Facial cleft, Omphalocele, Foot... |
OMIM:601357 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Dk Phocomelia Syndrome |
|
Encephalocele |
OMIM:223340 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Coloboma, Bifid distal phalanx of the thumb, Broad distal phalanx of the th... |
OMIM:120400 |
| Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Anxiety, Panic attack, Writer's cramp, Personality disorder, Dystonia |
ORPHA:36899 |
| Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... |
ORPHA:3246 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Encephalocele |
ORPHA:1003 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Facial cleft, Coloboma |
OMIM:600251 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele |
OMIM:213010 |
| Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology |
ORPHA:85203 |
| Cocaine Embryofetopathy |
|
Encephalocele |
ORPHA:1911 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Hydrocephalus, Congenital hip dislocation, Abnormal rib morpholog... |
ORPHA:1647 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnormal thorax mor... |
ORPHA:294975 |
| Acrofacial Dysostosis, Catania Type |
|
Clinodactyly of the 5th finger, Pectus excavatum, Inguinal hernia, Small hand, Brachydactyly, Bil... |
ORPHA:1786 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis, 1-3 toe syndactyly, Broad hallux, Umbilical hernia, Scaphocephal... |
OMIM:175700 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Triopia |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele |
OMIM:615397 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Coloboma, Iris coloboma, Clinodactyly |
OMIM:610023 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Abnormal rib cage morphology, Syndactyly, Bladder exstrophy, Facial cleft, O... |
OMIM:217100 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology,... |
ORPHA:3268 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... |
ORPHA:380 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele |
ORPHA:217 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele |
OMIM:200130 |
| Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Small hand, Overlapping fingers, Postaxial hand polydactyly, Faci... |
ORPHA:952 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation |
ORPHA:293 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Anxiety, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
| 2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Hand... |
ORPHA:1617 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Calvarial skull defect, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Short long bone, Thora... |
ORPHA:1505 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... |
ORPHA:957 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
| Oculomaxillofacial Dysostosis |
|
Adducted thumb, Camptodactyly of finger, Brachydactyly, Abnormality of the humerus, Facial cleft |
ORPHA:1794 |
| Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, 2-3 toe syndactyly, Short 5th finger, Facial cleft |
OMIM:239800 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
| Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Facial cleft, Short stature |
ORPHA:1791 |
| Huntington Disease-Like 2 |
|
Apathy, Action tremor, Depression, Anxiety, Dystonia, Irritability |
OMIM:606438 |
| Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Depression, Anxiety, Dystonia |
OMIM:616398 |
| Dystonia 12 |
|
Torticollis, Depression, Anxiety, Tremor, Emotional lability, Dystonia |
OMIM:128235 |
| Parietal Foramina 1 |
|
Encephalocele |
OMIM:168500 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Coloboma |
ORPHA:141333 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele |
OMIM:614416 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Spinal cord lesion |
ORPHA:1756 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... |
OMIM:220210 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Brachydactyly, Ulnar deviation of finger, Radioulnar synostosis, Coloboma, Iris colobo... |
ORPHA:921 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Syringomyelia, Spina bifida, Cervical myelopathy |
OMIM:207950 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Coloboma |
OMIM:614465 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:324416 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Mosaic Trisomy 9 |
|
Atrial septal defect, Endocardial fibroelastosis, Ventricular septal defect, Dextrocardia, Abnorm... |
ORPHA:99776 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Arrhinencephaly |
OMIM:218670 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Coloboma... |
OMIM:136760 |
| Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
| Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Anxiety, Dystonia, Resting tremor |
OMIM:605909 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Meckel Syndrome 13 |
|
Occipital encephalocele |
OMIM:617562 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Occipital encephalocele, Nasofrontal encephalocele, Meningocele |
ORPHA:101030 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... |
OMIM:613005 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Short stature, Brachycephaly, Midface retrusion, Turricephaly |
ORPHA:1532 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Postnatal growth retardation, Cervical spina bifida, Growth delay |
OMIM:600122 |
| Carpenter Syndrome |
|
Preaxial foot polydactyly, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Clo... |
ORPHA:65759 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Inguinal hernia, Short stature, Arachnodactyly, Brachydactyly, Syn... |
OMIM:600325 |
| Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Leber Congenital Amaurosis |
|
Encephalocele |
ORPHA:65 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Pectus excavatum, Finger syndactyly |
ORPHA:376 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
| Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
| Ring Chromosome 21 Syndrome |
|
Short stature, Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Abnormal hea... |
ORPHA:1445 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of... |
ORPHA:2839 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Short stature, Anencephaly, Mi... |
ORPHA:1908 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Facial cleft |
ORPHA:66625 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis |
OMIM:302905 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Broad hallux phalanx, Short hallux, Broad t... |
ORPHA:93258 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutaneous syndactyly, G... |
ORPHA:166024 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Bilateral single transverse palmar creases, Tapered finger, Abnormal tho... |
ORPHA:1236 |
| Meckel Syndrome, Type 8 |
|
Encephalocele |
OMIM:613885 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Iris coloboma, Facial cleft, Short palm, Foot polydactyly, Chorioretinal coloboma |
ORPHA:268249 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... |
OMIM:183802 |
| Coffin-Lowry Syndrome |
|
Drumstick terminal phalanges, Pectus excavatum, Inguinal hernia, Hyperextensibility of the finger... |
OMIM:303600 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Plagiocephaly, Dolichocephaly, Camptodactyly of finger, Dilated cardiomyopathy, Br... |
ORPHA:272 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
| Mend Syndrome |
|
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Short stature, Overlap... |
OMIM:300960 |
| Craniodigital-Intellectual Disability Syndrome |
|
Brachycephaly, Finger syndactyly, Spina bifida occulta, Short stature |
ORPHA:1514 |
| Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma |
OMIM:615665 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation, Short stature |
ORPHA:1327 |
| Distal Monosomy 13Q |
|
Abnormal cardiac septum morphology, Holoprosencephaly, Short stature, Abnormality of the hand, An... |
ORPHA:1590 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, Thin calvarium, 2-3 finger syndactyly,... |
ORPHA:2437 |
| Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... |
OMIM:300244 |
| Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of... |
ORPHA:1263 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Dolichocephaly, C... |
ORPHA:2633 |
| Joubert Syndrome 9 |
|
Encephalocele |
OMIM:612285 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Pseudoprogeria Syndrome |
|
Cranium bifidum occultum |
ORPHA:2985 |
| Summitt Syndrome |
|
Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad phalanx, Brachycephaly, Trigonocephaly, Broad metatarsal |
OMIM:275595 |
| Joubert Syndrome 23 |
|
Polydactyly, Coloboma |
OMIM:616490 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short toe, Pectus excavatum, 2-3 toe syndactyly, Cone-shaped epiphysis, Brachydactyly, Tapered fi... |
OMIM:618659 |
| Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal bo... |
ORPHA:3250 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Short toe, Holoprosencephaly, Brachydactyly, Tapered finger, Brachycephaly, Short finger |
OMIM:610680 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
| Lissencephaly 8 |
|
Occipital encephalocele |
OMIM:617255 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele |
OMIM:241800 |
| Curry-Jones Syndrome |
|
Cutaneous syndactyly of toes, Syndactyly, Duplication of thumb phalanx, Coloboma, Broad thumb, Cu... |
OMIM:601707 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele |
ORPHA:398156 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
| Pentasomy X |
|
Abnormal cardiac septum morphology, Plagiocephaly, Clinodactyly of the 5th finger, Short stature,... |
ORPHA:11 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Atrial septal defect, Dolichocephaly, Spina bifida occulta, Finge... |
ORPHA:2475 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Encephalocele, Broad hallux phalanx, Flat occiput, Broad thumb, Exencephaly, B... |
ORPHA:2211 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Resting tremor, Anxiety, Postural tremor |
OMIM:606324 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Syndactyly, Polydactyly |
OMIM:602501 |
| Bartsocas-Papas Syndrome 1 |
|
Talipes equinovarus, Absent thumb, Inguinal hernia, Syndactyly, Short phalanx of finger, Short th... |
OMIM:263650 |
| Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, Sagittal crani... |
OMIM:201000 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Brachyturricephaly, Ventricular septal defect, Frontal bossing, Bra... |
OMIM:218350 |
| Pfeiffer Syndrome |
|
Hydrocephalus, Elbow ankylosis, Coronal craniosynostosis, Brachyturricephaly, Short middle phalan... |
OMIM:101600 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Anencephaly, Meningocele |
OMIM:603194 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele |
OMIM:164180 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Ulnar deviation of the wrist, Clinodactyly,... |
OMIM:618577 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability |
ORPHA:3198 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Anencephaly, Meningocele |
OMIM:611134 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Brachycephaly, Midface retrusion, Metacarpal synostosis |
ORPHA:35099 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, ... |
ORPHA:2163 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... |
OMIM:173800 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Atrioventricular canal defect, Ventricular septa... |
ORPHA:7 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Occipital encephalocele |
ORPHA:60015 |
| Mental Retardation Syndrome, Belgian Type |
|
Coloboma |
OMIM:249599 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... |
ORPHA:370010 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Arrh... |
ORPHA:1788 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Facial cleft, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
| Cree Mental Retardation Syndrome |
|
Pectus excavatum, Coloboma, Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger ... |
OMIM:606851 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:615287 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Encephalocele |
OMIM:614424 |
| Muenke Syndrome |
|
Carpal synostosis, Hydrocephalus, Plagiocephaly, Coronal craniosynostosis, Cone-shaped epiphysis,... |
ORPHA:53271 |
| Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
| Joubert Syndrome 7 |
|
Encephalocele |
OMIM:611560 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Inappropriate beha... |
ORPHA:309246 |
| Triploidy |
|
Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly, Iris coloboma, Omphalocele,... |
ORPHA:3376 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele |
ORPHA:521308 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Cutaneous syndactyly, Br... |
OMIM:236500 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele |
ORPHA:280195 |
| Monosomy 5P |
|
Inguinal hernia, Short stature, Small hand, Intrauterine growth retardation, Finger syndactyly |
ORPHA:281 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Abnormality of toe, Small hand, Brachydactyly, Coloboma, Abnormal thumb morphol... |
ORPHA:94065 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... |
OMIM:617895 |
| Hypomelanosis Of Ito |
|
Syndactyly, Iris coloboma, Radial deviation of finger, Clinodactyly, Hand polydactyly |
OMIM:300337 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Short stature, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth ... |
ORPHA:1393 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Clinodactyly, Finger syndactyly |
ORPHA:251046 |
| Sclerosteosis |
|
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand |
ORPHA:3152 |
| Summitt Syndrome |
|
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachyd... |
ORPHA:3210 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele |
OMIM:603671 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Prominent fin... |
OMIM:619721 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly |
OMIM:614175 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia of the distal... |
OMIM:113000 |
| Fountain Syndrome |
|
Spina bifida, Spina bifida occulta, Short stature |
ORPHA:3219 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Pectus excavatum, Thoracic scoliosis, Absent thumb, Hypopla... |
OMIM:142900 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Pectus excavatum, Inguinal hernia, Deep palmar crease, Brachydact... |
OMIM:619451 |
| Cornelia De Lange Syndrome 2 |
|
Short stature, Hypertrophic cardiomyopathy, Small hand, Brachydactyly, Limited elbow movement, Cl... |
OMIM:300590 |
| Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Inguinal hernia, Short stature, Small... |
ORPHA:459061 |
| Holt-Oram Syndrome |
|
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sloping shou... |
ORPHA:392 |
| Muenke Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Plagiocephaly, Thimble-shaped middle phalange... |
OMIM:602849 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Slender finger, Inguinal hernia, Coloboma, Sing... |
ORPHA:329224 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Cranium bifidum occultum, Pectoral m... |
ORPHA:306542 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Hydrocephalus, Craniosynostosis, Radioulnar synostosis, Umbilical hernia, Bowing o... |
ORPHA:171839 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... |
ORPHA:959 |
| Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Rhizomelia, E... |
ORPHA:63259 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Pai Syndrome |
|
Encephalocele |
ORPHA:1993 |
| Verheij Syndrome |
|
Hip dislocation, Short 5th finger, Clinodactyly, Coloboma |
OMIM:615583 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft |
OMIM:613451 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:607361 |
| Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Meningocele |
ORPHA:1759 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short stature, Brachydactyly, Shor... |
OMIM:614701 |
| 2Q31.1 Microdeletion Syndrome |
|
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Inguinal hernia, Broad... |
ORPHA:251014 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Brachydactyly, Frontal bossing, Abnormal metacarpal morphology, Brachycephaly, Tur... |
ORPHA:93262 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma |
OMIM:274270 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Charlie M Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly |
ORPHA:1406 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Short stature, Craniosynostosis, Micromelia, Brachydactyly, Split hand, Turricepha... |
ORPHA:2145 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Triphalangeal thumb, Palmoplantar keratoderma, Short ... |
ORPHA:2251 |
| Laurence-Moon Syndrome |
|
Short stature, Brachydactyly, Bilateral single transverse palmar creases, Iris coloboma, Hand pol... |
ORPHA:2377 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Craniosynostosis, Dolichocephaly,... |
ORPHA:1515 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Atrial septal defect, Coronal craniosynostosis, Femoral bowing, Arachnodactyly, Ca... |
OMIM:207410 |
| Coach Syndrome 2 |
|
Hydrocephalus, Chorioretinal coloboma, Coloboma |
OMIM:619111 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Plagiocephaly, Talipes equinovarus, Adducted thumb, Cutaneous syn... |
OMIM:617822 |
| Frontorhiny |
|
Encephalocele, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Massively thickened long bone cortices, Short stature, Thin calvarium, Brachydactyly, Micromelia,... |
OMIM:122900 |
| Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly |
ORPHA:2440 |
| Bresek Syndrome |
|
Hydrocephalus, Plagiocephaly, Postaxial hand polydactyly, Iris coloboma, Growth delay, Intrauteri... |
ORPHA:85284 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Griscelli Syndrome |
|
Hydrocephalus, Encephalocele |
ORPHA:381 |
| Craniofrontonasal Dysplasia |
|
Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Clinodactyly of the 5th finger,... |
ORPHA:1520 |
| Gorlin Syndrome |
|
Hydrocephalus, Arachnodactyly, Brachydactyly, Frontal bossing, Iris coloboma, Palmar pits, Brachy... |
ORPHA:377 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Severe short stature, Large iliac wing, Cone-shaped epiphysis, Abnormality... |
ORPHA:2511 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly, Camptodactyly, Frontal boss... |
OMIM:615539 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
| Apert Syndrome |
|
Hydrocephalus, Craniosynostosis, Cutaneous syndactyly, Brachyturricephaly, Rhizomelic arm shorten... |
OMIM:101200 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele |
ORPHA:228390 |
| Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Short distal phalanx of finger, Hydrocephalus, Calvarial sku... |
ORPHA:974 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Dolichocephaly, Plagiocephaly, Brachycephaly, Alobar holoprosencephaly |
OMIM:615433 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe, Midface retrusion |
OMIM:612581 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Coloboma |
OMIM:120433 |
| Cousin Syndrome |
|
Hydrocephalus, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma |
OMIM:602499 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele |
OMIM:216360 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Facial cleft, Encephalocele |
ORPHA:861 |
| Crouzon Syndrome |
|
Hydrocephalus, Frontal bossing, Multiple suture craniosynostosis, Iris coloboma, Brachycephaly, M... |
ORPHA:207 |
| Fraser Syndrome 1 |
|
Myelomeningocele, Hydrocephalus, Wide pubic symphysis, Aplasia/Hypoplasia of the sternum, Facial ... |
OMIM:219000 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Intrauterine growth retardation, Clinodactyly of the 5th finger... |
ORPHA:1292 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Slender finger, Abnormal heart morphology |
OMIM:615656 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Short stature, Arachnodactyly, Camptodactyly of finger, Frontal b... |
ORPHA:2994 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Inguinal hernia, Short stature, Camptodactyly of finger, Promi... |
ORPHA:2311 |
| Mohr Syndrome |
|
Metaphyseal irregularity, Hydrocephalus, Clinodactyly of the 5th finger, Bilateral postaxial poly... |
OMIM:252100 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist |
ORPHA:1825 |
| Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis, Small hand, Broad hallux phalanx, Short hallux, Deviation of ... |
ORPHA:93259 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Short stature, Abnormality of the hand, Syndactyly, Camptodactyly, Ventricular sep... |
ORPHA:369891 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Short stature, Syndactyly, Frontal bossing, Flat occiput |
OMIM:181510 |
| Weaver Syndrome |
|
Talipes equinovarus, Inguinal hernia, Camptodactyly of finger, Large hands, Broad thumb, Sandal g... |
ORPHA:3447 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma, Patellar hypoplasia, Brachydactyly, Short fourth metatarsal |
ORPHA:464288 |
| Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Finger syndactyly, Optic disc coloboma, Broad thumb, Iris coloboma,... |
ORPHA:1553 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Pectus excavatum, Arachnodactyly, Syndactyly, Thoracic kyphosis, Clinodactyly |
OMIM:619092 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Ulnar deviation of the hand, Holoprosencephaly, Postaxial polydactyly, Preaxial po... |
OMIM:612651 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Short stature, Micromelia, Brachydactyly, Syndactyly, Single transverse palmar crease, Sandal gap... |
OMIM:614800 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Inguinal hernia, Syndactyly, Polydactyly, Short 5th... |
ORPHA:397590 |
| Craniosynostosis 2 |
|
Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Triphalangeal thumb, Bicoro... |
OMIM:604757 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Prominent fingertip pads, Hyperextensibility of the finger joints, Clinodactyly of... |
OMIM:618821 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial polydactyly, Prea... |
OMIM:618142 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Mesomelia, Syndactyly, Neonatal death |
OMIM:228940 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Talipes equinovarus, Coloboma |
OMIM:617695 |
| Diaphanospondylodysostosis |
|
Myelomeningocele |
ORPHA:66637 |
| Filippi Syndrome |
|
Cutaneous syndactyly, Finger clinodactyly, Ventricular septal defect, Single transverse palmar cr... |
OMIM:272440 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:370959 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Tethered cord, Short stature |
OMIM:617660 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Talipes equinovarus, Clinodactyly, Coloboma |
OMIM:616789 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Flat occiput, Bicoronal synostosis, Brachycephaly, Lambdoidal craniosynostosis |
OMIM:618736 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Omphalocele, Toe syndactyly |
OMIM:601163 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Overlapping toe, Broad phalanx, Clinodactyly of the 5th finger, Pectus excavatum, Thoracic scolio... |
ORPHA:508498 |
| Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Frontal bossing, Hand polydactyly, Foot polydactyly, Finger syndactyly, Toe syndac... |
ORPHA:60040 |
| Alg3-Cdg |
|
Abnormality of limb bone morphology, Cardiomyopathy, Neural tube defect, Metaphyseal chondrodyspl... |
ORPHA:79321 |
| Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Tethered cord, Neural tube defect, Meningocele, Lipomyelome... |
ORPHA:268810 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... |
OMIM:300963 |
| Microphthalmia, Syndromic 13 |
|
Coloboma |
OMIM:300915 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bo... |
ORPHA:1106 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Plagiocephaly, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly,... |
OMIM:605282 |
| Craniosynostosis 6 |
|
Brachycephaly, Plagiocephaly, Craniosynostosis, Spina bifida occulta, Turricephaly |
OMIM:616602 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Tethered cord |
OMIM:612918 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad hallux, Broad thumb, Syndactyly |
OMIM:613684 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Encephalocele |
ORPHA:2318 |
| Meckel Syndrome 14 |
|
Holoprosencephaly, Postaxial polydactyly, Single ventricle, Decreased calvarial ossification, Syn... |
OMIM:619879 |
| Treacher Collins Syndrome 3 |
|
Coloboma |
OMIM:248390 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Spina bifida occulta, Short stature |
OMIM:613686 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Encephalocele |
ORPHA:220497 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Coloboma |
OMIM:613153 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Finger clinodactyly |
OMIM:616489 |
| Filippi Syndrome |
|
Clinodactyly of the 5th finger, Severe short stature, Short stature, Bilateral single transverse ... |
ORPHA:3255 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Hip dislocation, Brachycephaly, Coxa valga |
OMIM:109120 |
| Joubert Syndrome |
|
Hydrocephalus, Encephalocele |
ORPHA:475 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| Opitz-Kaveggia Syndrome |
|
Hydrocephalus, Plagiocephaly, Joint contracture of the hand, Inguinal hernia, Short stature, Prom... |
OMIM:305450 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of F... |
ORPHA:1335 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... |
OMIM:609638 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, Femoral... |
OMIM:615503 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Sandal... |
OMIM:607323 |
| Joubert Syndrome 8 |
|
Occipital encephalocele |
OMIM:612291 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Craniosynostosis, Metacarpophalangeal joint hyperextensibility, Radioulnar synosto... |
OMIM:245600 |
| Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety |
OMIM:184850 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Short stature, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morphology, Iris col... |
OMIM:268850 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Ventricular sept... |
ORPHA:2256 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Hydrocephalus, Plagiocephaly, Postaxial polydactyly, Broad hallux, H... |
OMIM:616362 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Talipes equinovarus, Short stature, Pulmonic stenosis, Left ventricular hypertro... |
OMIM:619148 |
| Otodental Dysplasia |
|
Coloboma |
OMIM:166750 |
| Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Narrow chest, Short ribs, Micromelia, Abnormal pelvis bone ossification, Postaxial hand polydacty... |
ORPHA:93271 |
| Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Inguinal hernia, Small hand, Camptodactyly of f... |
ORPHA:915 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Intrauterine growth retardation, Hydrocephalus, Disproportionate short-limb short stature, Cone-s... |
OMIM:101800 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Postaxial polydactyly, Short ribs, Brachydactyly, P... |
OMIM:614091 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short stature, Small hand, Spina bifida occulta, Short 4th metacarpal, Midface retrusion, Finger ... |
ORPHA:1787 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
| Adams-Oliver Syndrome 6 |
|
Calvarial skull defect, Syndactyly, Brachydactyly, Ventricular septal defect, Foot oligodactyly, ... |
OMIM:616589 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Encephalocele |
ORPHA:220493 |
| Stevenson-Carey Syndrome |
|
Coloboma, Hip dysplasia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
| Desbuquois Dysplasia 2 |
|
Narrow chest, Epiphyseal dysplasia, Advanced ossification of carpal bones, Pectus excavatum, Toe ... |
OMIM:615777 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand |
OMIM:603543 |
| Moebius Syndrome |
|
Talipes equinovarus, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Radial de... |
OMIM:157900 |
| Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Abnormality of limb bone, Syndactyly, Abnormal pelvis bone ossif... |
ORPHA:166119 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defect, Hip dysplasia, Tetralogy of ... |
OMIM:612582 |
| Fetal Trimethadione Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Bilateral single transverse palmar creases... |
ORPHA:1913 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Encephalocele |
OMIM:224400 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly, Cardiomegaly |
OMIM:613576 |
| Treacher Collins Syndrome 2 |
|
Coloboma |
OMIM:613717 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Short stature, Single ventricle, Ethmocephaly, Facial cleft |
OMIM:236100 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Small hand, Broad hallux phalanx, Brachyturricephaly, Short hallux, Broad th... |
ORPHA:93260 |
| Camptobrachydactyly |
|
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly |
OMIM:114150 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Coloboma |
OMIM:167730 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Encephalocele |
ORPHA:1865 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Intrauterine growth retardation |
ORPHA:1914 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Short stature, Scaphocephaly,... |
OMIM:614886 |
| Monosomy 13Q14 |
|
Trigonocephaly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Short stature, H... |
ORPHA:1587 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Severe short stature, Large iliac wing, High iliac wing, Spina bifida occu... |
ORPHA:2780 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Nail-Patella Syndrome |
|
Hypoplasia of first ribs, Pectus excavatum, Clinodactyly of the 5th finger, Disproportionate prom... |
OMIM:161200 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Broad thumb, Syndactyly |
OMIM:617364 |
| Trisomy 18 |
|
Short stature, Holoprosencephaly, Anencephaly, Growth delay, Spina bifida, Intrauterine growth re... |
ORPHA:3380 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... |
OMIM:618316 |
| Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... |
OMIM:601005 |
| Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Aplasia/Hypoplasia involving bones of the thorax, Thoracoabdomin... |
ORPHA:2369 |
| Kury-Isidor Syndrome |
|
Talipes equinovarus, Brachydactyly, Ventricular septal defect, Frontal bossing, Rocker bottom foo... |
OMIM:619762 |
| Fg Syndrome Type 1 |
|
Hydrocephalus, Plagiocephaly, Atrial septal defect, Inguinal hernia, Craniosynostosis, Short stat... |
ORPHA:93932 |
| Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Cooper-Jabs Syndrome |
|
Short stature, Abnormal hip bone morphology, Camptodactyly of finger, Ventricular septal defect, ... |
ORPHA:1488 |
| Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
OMIM:264480 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Tibial bowing, Clinodactyly of the 5th finger, Talipes equinovarus, Slender finger, Abnormal hip ... |
ORPHA:251028 |
| Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Short clavicles, Abnormal palmar dermatoglyphics, Inguinal he... |
ORPHA:2092 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Camptodactyly, Adducted thumb, ... |
OMIM:121050 |
| Grange Syndrome |
|
Short palm, Syndactyly |
ORPHA:79094 |
| Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
| Poland Syndrome |
|
Cone-shaped epiphysis, Abnormality of the humerus, Pectus carinatum, Encephalocele, Sprengel anom... |
ORPHA:2911 |
| Arthrogryposis, Distal, Type 4 |
|
Talipes equinovarus, 2-5 finger cutaneous syndactyly, Camptodactyly of 2nd-5th fingers, Deviation... |
OMIM:609128 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Congenital hip dislocation, Syndactyly, Mitral valve prolapse, Cubitus valgus, Umb... |
OMIM:104350 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Short ... |
OMIM:600987 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Syndactyly, Clinodactyly, Postnatal growth retardation, Intrauterine growth retard... |
ORPHA:2169 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Finger syndactyly, Occipital encephalocele, Anencephaly, Apla... |
ORPHA:887 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly |
OMIM:263630 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Biparietal narrowing, Short stature, Abnormal hip bone morphology, Camptodactyly of finger, Synos... |
ORPHA:1323 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Syndactyly, Pericardial lymphangiectasia, Camptodactyly |
OMIM:616006 |
| Basal Cell Nevus Syndrome |
|
Sprengel anomaly, Bifid ribs, Short distal phalanx of the thumb, Abnormal sternum morphology, Hyd... |
OMIM:109400 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
| Apert Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Brachyturricephaly, Micromelia, Acrobrachycephaly... |
ORPHA:87 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... |
ORPHA:3258 |
| Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Inguinal hernia, Right ventricular hypertrophy, Pulmonic stenosis, Brac... |
OMIM:616028 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short clavicles, Finger syndactyly, Short ribs, Absent middle phalanx of 3rd finger, Absent middl... |
OMIM:308050 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Hydrocephalus, Tethered cord, Meningocele, Myeloschisis, Hydromyelia |
OMIM:600145 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Plagiocephaly, Abnormality of finger, Hiatus hernia, Atrial septal defect, Ectrodact... |
ORPHA:2538 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Short stature, Meningocele |
ORPHA:991 |
| Cleidocranial Dysplasia |
|
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Short stature, Down-sloping shoulders... |
ORPHA:1452 |
| Anauxetic Dysplasia 3 |
|
Plagiocephaly, Metaphyseal cupping, Severe short stature, Femoral bowing, Broad middle phalanx of... |
OMIM:618853 |
| Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Inguinal hernia, Brachydactyly, Duplication of... |
OMIM:200990 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
