| Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormality of the vertebral column, Abnormal hip bone morphology, Syndactyly, Abnor... |
ORPHA:294975 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Scoliosis, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bo... |
OMIM:619110 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Narr... |
OMIM:618435 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Short thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Talipes equinovarus, Absent thumb |
OMIM:613681 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... |
OMIM:615072 |
| Brachydactyly Type A4 |
|
Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd finger, Symphalangism aff... |
ORPHA:93394 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Scoliosis, Hip dysplasia, Short metacarpal, Limited elbow flexion, Double-layered patella, Hypopl... |
OMIM:226900 |
| Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Hip dislocation, Hip dysplasia, Abnormal heart morphology, Cleft palate, Kyphoscoliosi... |
ORPHA:93359 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Hip dysplasia, Coxa valga, Talipes equinovarus, Acetabular dysplasia, Genu valgum |
OMIM:613618 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... |
ORPHA:1891 |
| Diastrophic Dysplasia |
|
Short finger, Scoliosis, Lumbar hyperlordosis, Ulnar deviation of finger, Flattened epiphysis, Ir... |
OMIM:222600 |
| Arthrogryposis, Distal, Type 2B3 |
|
Camptodactyly, Scoliosis, Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Adducted thum... |
OMIM:618436 |
| Aase-Smith Syndrome |
|
Camptodactyly of finger, Scoliosis, Abnormal hip bone morphology, Cleft palate, Slender finger, T... |
ORPHA:916 |
| Crossed Polysyndactyly |
|
Abnormality of the philtrum, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pe... |
ORPHA:2935 |
| Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
| Gordon Syndrome |
|
High palate, Camptodactyly of finger, Scoliosis, Finger syndactyly, Cleft palate, Talipes, Clinod... |
ORPHA:376 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Cleft palate, Tapered finger, Glossoptosis, Pierre-Robin sequence... |
OMIM:311895 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormal form of the vertebral bodies, Abnormal metacarpal morpholo... |
ORPHA:3104 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Arthrogryposis, Distal, Type 7 |
|
Hip dislocation, Deep philtrum, Metatarsus adductus, Hammertoe, Talipes equinovarus, Cutaneous sy... |
OMIM:158300 |
| Multiple Synostoses Syndrome 3 |
|
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ... |
OMIM:612961 |
| Brachydactyly Type A1 |
|
Scoliosis, Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of... |
ORPHA:93388 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Scoliosis, Abnormality of the dentition, Abnormality of the elbow, F... |
ORPHA:3268 |
| Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Talipes equinovarus, Autoamputation of digits, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
| Arthrogryposis, Distal, Type 1B |
|
Camptodactyly, Rocker bottom foot, Foot joint contracture, Talipes equinovarus, Joint contracture... |
OMIM:614335 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Lumbar hyperlordosis, Dumbbell-shaped femur, Short greater sciatic notch, Short neck, ... |
OMIM:256050 |
| Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
| Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... |
OMIM:183600 |
| Cystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:214 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short 5th finger,... |
ORPHA:52056 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Phalangeal dislocation, Talipes equinovarus, Elbow dislocation |
ORPHA:85174 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, Metaphyseal irr... |
OMIM:613330 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
| Holzgreve Syndrome |
|
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip, Renal hypoplasia |
OMIM:236110 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Hypoplastic left heart, Ureteral atresia, Unilateral renal agenesis, Sacral dim... |
OMIM:618845 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Sprengel Deformity |
|
Short neck, Cleft palate, Shoulder muscle hypoplasia, Abnormal shoulder morphology, Abnormality o... |
ORPHA:3181 |
| Atelosteogenesis, Type Iii |
|
Elbow dislocation, Scoliosis, Tombstone-shaped proximal phalanges, Short neck, Widened distal pha... |
OMIM:108721 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Distal lower limb muscle weakness, Knee flexion contracture, Proximal lower limb amyot... |
OMIM:600175 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... |
OMIM:113000 |
| Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Distal lower limb muscle weakness, Pes cavus, Scapular winging, Proximal muscle weakness in upper... |
OMIM:619216 |
| Disorganization, Mouse, Homolog Of |
|
Hand polydactyly, Hip dislocation, Sacral meningocele, Cleft palate, Limb duplication, Cleft uppe... |
OMIM:223200 |
| Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Hyporeflexia of upper limbs, Intrinsic hand muscle atrophy, Knee dislocation, Talipes equinovarus... |
ORPHA:178145 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Short palm, Small hand, Talipes equinovarus, Hypoplasia of the odontoid process, I... |
ORPHA:85172 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Pes cavus, Kyphosis, Upper limb amyotrophy, Talipes equinovarus |
OMIM:617087 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, Selective too... |
OMIM:225280 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... |
OMIM:211960 |
| Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect, Postaxial polydactyly, Horseshoe kidney, Trident pelvis... |
OMIM:614815 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Hip dislocation, Kyphosis, Small hand, Talipes equinovarus, Short foot |
OMIM:300434 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Broad distal phalanx of the thumb, Hallux valgus, Short middle phal... |
ORPHA:93397 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Whistling Face Syndrome, Recessive Form |
|
Camptodactyly, High palate, Ulnar deviation of finger, Short neck, Knee flexion contracture, Shou... |
OMIM:277720 |
| Hyperekplexia 4 |
|
Camptodactyly, High palate, Umbilical hernia, Adducted thumb, Talipes equinovarus, Kyphoscoliosis |
OMIM:618011 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Scoliosis, Absent phalangeal crease, Short neck, Cleft palate, Talipes ... |
OMIM:618469 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Hallux valgus, Aplasia/Hypoplasia of the middle phalanx of the 2nd ... |
OMIM:112600 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Syndactyly, Cutaneous finger syndacty... |
OMIM:600384 |
| Arthrogryposis, Distal, Type 3 |
|
Down-sloping shoulders, Camptodactyly of finger, Scoliosis, Lumbar hyperlordosis, Camptodactyly o... |
OMIM:114300 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
| Arthrogryposis, Distal, Type 11 |
|
Camptodactyly, Limited pronation/supination of forearm, Calcaneovalgus deformity, Rocker bottom f... |
OMIM:620019 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Short 5th toe, Shor... |
ORPHA:1326 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Scoliosis, Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatars... |
ORPHA:93307 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Scoliosis, Small thenar eminence, Distal lower limb muscle weakness, Pes cavus, Small hypothenar ... |
OMIM:609311 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... |
OMIM:251450 |
| Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
| Erythema Of Acral Regions |
|
Abnormality of the dentition, Talipes equinovarus |
OMIM:227000 |
| Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... |
DECIPHER:46 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Scoliosis, Hip dysplasia, Distal lower limb muscle weakness, Pes cavus, Knee flexion contracture,... |
OMIM:615290 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Ovoid vertebral bodies, Abnormal hi... |
ORPHA:1856 |
| Arthrogryposis, Distal, Type 2E |
|
Narrow mouth, Foot joint contracture, Joint contracture of the hand, Talipes equinovarus |
OMIM:121070 |
| Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus |
OMIM:619501 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brac... |
OMIM:610140 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Polycystic kidney dysplasia, Polydactyly, Short neck, Enlarged kidney, Occipital e... |
OMIM:613885 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cleft palate, Rocker bottom foot, Talipes equinovarus |
OMIM:616570 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Classic Homocystinuria |
|
High palate, Scoliosis, Kyphosis, Esophageal varix, Dental crowding, Abnormality of amino acid me... |
ORPHA:394 |
| Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal epi... |
ORPHA:1388 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Masa Syndrome |
|
Pes cavus, Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis |
OMIM:303350 |
| Weaver Syndrome |
|
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Pes cavus, Deep philtrum, Fin... |
ORPHA:3447 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphol... |
ORPHA:1988 |
| Pseudodiastrophic Dysplasia |
|
Camptodactyly, Scoliosis, Lumbar hyperlordosis, Short neck, Tongue-like lumbar vertebral deformit... |
OMIM:264180 |
| Braddock-Carey Syndrome 1 |
|
Clinodactyly, Camptodactyly, Thick vermilion border, Anteriorly placed anus, Ventricular septal d... |
OMIM:619980 |
| Carpenter Syndrome |
|
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... |
ORPHA:65759 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Pes cavus, Cardiomyopathy, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Dislo... |
OMIM:300280 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Knee flexion contracture, Tongue atrophy, Proximal muscle weakness in upper limbs, Upper limb amy... |
ORPHA:496689 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Thoracic kyphosis, Cleft lip, Arachnodactyly, Cleft palate, Long toe, Pes planus, Large hands |
OMIM:300263 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal ossification, Triangular mouth, C... |
ORPHA:166024 |
| Arthrogryposis, Distal, Type 1A |
|
Camptodactyly, Scoliosis, Congenital hip dislocation, Calcaneovalgus deformity, Overlapping toe, ... |
OMIM:108120 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Scoliosis, Absent phalangeal crease, High ... |
OMIM:601680 |
| Aspartylglucosaminuria |
|
Macroglossia, Scoliosis, Abnormality of the dentition, Malabsorption, Umbilical hernia, Aspartylg... |
ORPHA:93 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... |
ORPHA:1837 |
| Kury-Isidor Syndrome |
|
Hydronephrosis, High palate, Scoliosis, Hip dysplasia, Ventricular septal defect, Short neck, Pro... |
OMIM:619762 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... |
OMIM:206920 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Hyperlordosis, Joint contracture of the hand, Talipes equinovarus |
OMIM:611067 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Talipes equinovarus, Upper limb amyotrophy |
ORPHA:99940 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Absent uvula, Femoral retroversio... |
OMIM:616531 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Areflexia of lower limbs, High palate, Scoliosis, Hip dysplasia, Short neck, Kyphosis, Rocker bot... |
OMIM:611890 |
| Split-Hand/Foot Malformation 6 |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Charlie M Syndrome |
|
Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Narrow mouth, Thin vermilion b... |
ORPHA:1406 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal m... |
ORPHA:2631 |
| Moebius Syndrome |
|
Clinodactyly, Camptodactyly, High palate, Abnormality of the dentition, Pes planus, Bifid uvula, ... |
OMIM:157900 |
| Lambert Syndrome |
|
Hypospadias, Wide mouth, Talipes equinovarus |
OMIM:245550 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Abnormality of amino acid metabolism |
ORPHA:28378 |
| Cenani-Lenz Syndactyly Syndrome |
|
Scoliosis, Pulmonic stenosis, Ectopic kidney, Syndactyly, Enamel hypoplasia, Hemivertebrae, Prema... |
OMIM:212780 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Talipes equinovarus |
OMIM:181400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of lower limbs, Scoliosis, Tongue atrophy, Areflexia of upper limbs, Talipes equinovarus |
OMIM:616155 |
| 1Q21.1 Microduplication Syndrome |
|
Hip dislocation, Hip dysplasia, Tetralogy of Fallot, Talipes equinovarus, Hypospadias |
ORPHA:250994 |
| Prieto Syndrome |
|
Abnormality of the dentition, Coxa valga, Patellar subluxation, Patellar dislocation, Radial devi... |
OMIM:309610 |
| Arthrogryposis, Distal, Type 4 |
|
Camptodactyly, Scoliosis, Lumbar scoliosis, Tibial deviation of toes, Equinovarus deformity, Camp... |
OMIM:609128 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate, Toe syndactyly, Split hand, Split foot |
OMIM:183700 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, High palate, Pulmoni... |
ORPHA:3098 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Scoliosis, High palate, Cleft palate, Talipes equinovarus, Tongue fascic... |
OMIM:614399 |
| Microtriplication 11Q24.1 |
|
Irregularly spaced teeth, Scoliosis, Short neck, Cleft palate, Genu valgum, Metatarsus adductus, ... |
ORPHA:289522 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Short neck, Pes cavus, Umbilical hernia, Sacral dimple, Long philtrum, Smooth philtr... |
OMIM:613544 |
| Congenital Myopathy 24 |
|
High palate, Pes cavus, Cardiomyopathy, Scapular winging, Talipes equinovarus |
OMIM:617336 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Scoliosis, Anterior bowing of long bones, Shoulder flexion contracture, Narrow mouth, Bowing of t... |
OMIM:255800 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Finger symphalangism, Carpal synostosis, Humeroradial synostosis, Talipes equin... |
OMIM:610017 |
| Arthrogryposis, Distal, Type 5D |
|
Camptodactyly, Scoliosis, Congenital hip dislocation, Open mouth, Furrowed tongue, Short neck, Ca... |
OMIM:615065 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Scoliosis, Talipes equinovarus |
OMIM:601382 |
| Bruck Syndrome 1 |
|
Scoliosis, Vertebral wedging, Knee flexion contracture, Kyphosis, Platyspondyly, Protrusio acetab... |
OMIM:259450 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Micropenis, Short middle phalanx of finger, Talipes equinovarus, Hypospadias, Abnormal cardiac se... |
OMIM:612626 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Hip dislocation, Lumbar hyperlordosis, Kyphosis, Talipes equinovarus |
OMIM:616756 |
| 2Q32Q33 Microdeletion Syndrome |
|
Oligodontia, High palate, Clinodactyly of the 5th finger, Cleft palate, Broad thumb, Narrow mouth... |
ORPHA:251019 |
| Roussy-Lévy Syndrome |
|
Scoliosis, Intrinsic hand muscle atrophy, Pes cavus, Urinary bladder sphincter dysfunction, Talip... |
ORPHA:3115 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Clinodactyly, Pes planus, Scoliosis, Club-shaped proximal femur, Cleft palate, Platyspondyly, Bra... |
OMIM:184250 |
| Contractural Arachnodactyly, Congenital |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Patellar dislocation, Congenital fing... |
OMIM:121050 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... |
ORPHA:370010 |
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Scoliosis, Bilateral talipes equinovarus, Flexion contracture of finger, Long philtrum, Adducted ... |
ORPHA:319332 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Tooth agenesis, Flattened epiphysis, Advanced ossification of carpal bones, Cleft pala... |
OMIM:618363 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Scoliosis, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper ... |
OMIM:613091 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Hip dislocation, Delayed calcaneal ossifica... |
OMIM:183900 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... |
OMIM:223800 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Scoliosis, Tooth agenesis, Low levels of vitamin K, Microdontia, ... |
ORPHA:1248 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Macroglossia, Camptodactyly, Scoliosis, High palate, Oligosacchariduria, Broad philtrum, Dental c... |
OMIM:616354 |
| Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
3-4 finger syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypopl... |
OMIM:609432 |
| Fibular Hemimelia |
|
Oligodactyly, Short tibia, Increased laxity of ankles, Abnormal heart morphology, Toe syndactyly,... |
ORPHA:93323 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615683 |
| Myopathic Ehlers-Danlos Syndrome |
|
Scoliosis, Knee flexion contracture, Kyphosis, Joint contracture of the hand, Tapered finger, Hig... |
ORPHA:536516 |
| 15Q11Q13 Microduplication Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:238446 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Camptodactyly, Scoliosis, Hypoplasia of teeth, Osteolysis involving bones of the lower limbs, Syn... |
ORPHA:88630 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft palate, Single transverse palmar crease, Cleft upper lip, Short ne... |
ORPHA:915 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Thoracic scolio... |
OMIM:142900 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Pes cavus, Ulnar claw, Hammertoe, Talipes equinovarus, Kyphoscoliosis, Split hand |
OMIM:604563 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Triangular tongue, Dilated cardiomyopathy, Talipes equinovarus, Calf muscle hypertr... |
OMIM:616827 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Hydranencephaly, Renal cyst, Renal hypoplasia, Cutaneous syndactyly, Clinodactyly of ... |
OMIM:236500 |
| Ulnar Hypoplasia With Mental Retardation |
|
Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus |
OMIM:276821 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Scoliosis, Bilateral coxa valga, Finger clinodactyly, Talipes equinovarus, Type II transferrin is... |
OMIM:611182 |
| Aminopterin Syndrome Sine Aminopterin |
|
Rudimentary postaxial polydactyly of hands, Oligodontia, High palate, Short thumb, Umbilical hern... |
OMIM:600325 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Camptodactyly of finger, Abnormality of the lower limb, Abnormal foot bone ... |
OMIM:300244 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Knee flexion contracture, Contracture of the proximal interphalangeal ... |
OMIM:617201 |
| Mehmo Syndrome |
|
Micropenis, Tapered finger, Hypoplasia of penis, Downturned corners of mouth, Thick vermilion bor... |
ORPHA:85282 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cleft palate, Narrow mouth, Thoracic scoliosis, Smooth philtrum, Single transverse palmar crease,... |
OMIM:611209 |
| Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Hydronephrosis, Camptodactyly of finger, Lumbar hyperlordosis, Sp... |
ORPHA:2839 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Kyphoscoliosis, Split hand, Talipes equinovarus |
OMIM:607831 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Abnormality of the vertebral column, Ectopic kidney, Abnormal heart morpho... |
OMIM:239800 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Camptodactyly, High palate, Bilateral talipes equinovarus, Arachnodactyly, Dental crowding, Narro... |
OMIM:615539 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot |
OMIM:313350 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Limited elbow extension, Camptodactyly, High palate, Pes planus, Short neck, Tapered finger, Narr... |
OMIM:272430 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Scoliosis, Proximal placement of thumb, Deep philtrum, Abnormality of the wrist, Finger syndactyl... |
ORPHA:1825 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Polydactyly, Renal cyst, Syndactyly, Brachydactyly |
OMIM:615982 |
| Hypomelanosis Of Ito |
|
Irregularly spaced teeth, Hand polydactyly, Scoliosis, Syndactyly, Kyphosis, Radial deviation of ... |
OMIM:300337 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Abnormal foot m... |
ORPHA:64754 |
| Sillence Syndrome |
|
Scoliosis, Pes cavus, Broad thumb, Brachydactyly, Broad metatarsal, Camptodactyly, Flat acetabula... |
ORPHA:3168 |
| Autosomal Recessive Centronuclear Myopathy |
|
High palate, Bifid uvula, Left ventricular hypertrophy, Pes cavus, Abnormal heart valve morpholog... |
ORPHA:169186 |
| Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Abnormal finger morphology, Movement abnormality of the tongue, Bilateral talipes equinovarus |
ORPHA:2560 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Scoliosis, Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Bilateral talipes equino... |
ORPHA:99948 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Metaphyseal cupping, Pes cavus, Irregular capital femoral epiphysis, Short femoral... |
OMIM:616716 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Finger syndactyly, Cleft palate, Toe syndactyly, Tracheoesophageal fistula,... |
ORPHA:261272 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hip dysplasia, Pyloric stenosis, Hydroureter, Tapered finger, Nephrolithiasis, Talipes equinovaru... |
OMIM:617219 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Scoliosis, Hip dislocation, Lumbar hyperlordosis, Genu varum, Ovoid vertebral bodies... |
OMIM:619451 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Hip dislocation, Tetralogy of Fallot, Horseshoe kidney, Cleft palate, Patellar disloca... |
ORPHA:3320 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Abnormal form of the vertebral bodies, Horseshoe kidney, Short tibia, Abnormalit... |
ORPHA:1106 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
High palate, Genu recurvatum, Talipes equinovarus, Pes planus, Acetabular dysplasia, Short philtr... |
OMIM:614066 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:616329 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
| Limb-Mammary Syndrome |
|
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... |
OMIM:603543 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation and fus... |
OMIM:244600 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Talipes equinovarus |
OMIM:130010 |
| Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Abnormality of the dentition, Abse... |
ORPHA:2053 |
| Monosomy 5P |
|
High palate, Scoliosis, Short neck, Finger syndactyly, Small hand |
ORPHA:281 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Oligodontia, Anodontia, Short thumb, Proximal placement of thumb,... |
ORPHA:90650 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Short metatarsal, Deep philtrum, Syndactyly, Short metacarpal, Talon cusp, Cleft palate... |
OMIM:605282 |
| Prune Belly Syndrome |
|
Anal atresia, Scoliosis, Congenital hip dislocation, Atrial septal defect, Tetralogy of Fallot, V... |
ORPHA:2970 |
| Juberg-Hayward Syndrome |
|
Scoliosis, Anteriorly placed anus, Short thumb, Horseshoe kidney, Abnormal finger morphology, Abn... |
ORPHA:2319 |
| Orofaciodigital Syndrome Viii |
|
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip |
OMIM:300484 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Micropenis, Bilateral talipes equinovarus, Atrial septal defect, Overlapping toe, Pr... |
OMIM:618142 |
| Lethal Kniest-Like Dysplasia |
|
Hypoplastic ilia, Atrial septal defect, Coronal cleft vertebrae, Short neck, Hypoplastic vertebra... |
ORPHA:2347 |
| Schneckenbecken Dysplasia |
|
Bilateral talipes equinovarus, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Advanced... |
OMIM:269250 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:613162 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Marden-Walker Syndrome |
|
Camptodactyly, Dextrocardia, Scoliosis, High palate, Pyloric stenosis, Short neck, Micropenis, Ky... |
OMIM:248700 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hip dysplasia, Short thumb, Atrial septal defect, Thoracolumbar scoliosis, Overlapping toe, Abnor... |
ORPHA:436003 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Scoliosis, Bilateral talipes equinovarus, Kyphosis, Flexion contracture of finger, Adducted thumb... |
OMIM:618484 |
| Aase-Smith Syndrome I |
|
Open mouth, Ventricular septal defect, Cleft palate, Slender finger, Talipes equinovarus |
OMIM:147800 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Anal atresia, Thoracolumbar scoliosis, Urethral obstruction, Preaxial hand polydactyly, Renal hyp... |
OMIM:601389 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, High palate, Overlapping toe, Short tibia, Narrow mouth, Absent forearm, Single tra... |
OMIM:201170 |
| Holt-Oram Syndrome |
|
Down-sloping shoulders, Scoliosis, Abnormality of the humerus, Hypoplastic left heart, Absent thu... |
ORPHA:392 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Camptodactyly, High palate, Knee flexion contracture, Scapular winging, Dental crowding, Hip cont... |
OMIM:617468 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Ventricular septal defect, Fl... |
OMIM:143095 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
ORPHA:93409 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Tapered finger, Short palm, Talipes equinovarus, Clinodactyly |
ORPHA:85279 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Scoliosis, Ventricular septal defect, Atrial septal defect, Short neck, Overlapping ... |
ORPHA:505237 |
| Obsolete: Early-Onset Schizophrenia |
|
Emotional lability, Abnormal emotion/affect behavior, Suicidal ideation, Cognitive impairment, Un... |
ORPHA:96369 |
| Perrault Syndrome 1 |
|
Pes cavus, High palate, Scoliosis, Talipes equinovarus |
OMIM:233400 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Scoliosis, Pes cavus, Ulnar claw, Hammertoe, Talipes equinovarus |
OMIM:608340 |
| Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Grayish enamel, Scoliosis, Hip dysplasia, Cervical subluxation, Widely space... |
OMIM:253010 |
| Mucopolysaccharidosis, Type Vii |
|
Scoliosis, Cardiomyopathy, Widely spaced teeth, Heparan sulfate excretion in urine, Short neck, N... |
OMIM:253220 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Low levels of vitamin E, Abnormality of amino acid metabolism, Esophageal varix, Hypertrophic car... |
ORPHA:309854 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Scoliosis, Lumbar scoliosis, Advanced ossification of carpal bones, Coxa valga, Cleft palate, Kne... |
OMIM:620269 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Scoliosis, Cleft palate, Carpal synostosis, Bowed humerus, Coxa vara, Brachydactyly, Short neck, ... |
OMIM:272460 |
| Nail-Patella Syndrome |
|
Scoliosis, Hypoplastic radial head, Iliac horns, Cleft palate, Patellar dislocation, Triceps apla... |
OMIM:161200 |
| Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Scoliosis, Preaxial foot polydactyly, Cleft p... |
OMIM:252100 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Scoliosis, Tooth malposition, Short thumb, Solitary median maxillary central incisor... |
ORPHA:2712 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Bilateral talipes equinovarus |
OMIM:616486 |
| Teebi-Shaltout Syndrome |
|
Hydronephrosis, Camptodactyly, Oligodontia, Ureteral stenosis, Ventricular septal defect, Horsesh... |
OMIM:272950 |
| Acrorenal Syndrome |
|
Renal insufficiency, Cleft palate, Abnormal morphology of ulna, Abnormality of tibia morphology, ... |
ORPHA:971 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,... |
ORPHA:2141 |
| Myopathy, Centronuclear, 2 |
|
High palate, Scoliosis, Pes cavus, Kyphosis, Scapular winging, Talipes equinovarus, Hyperlordosis |
OMIM:255200 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Cleft palate, Anencephaly, Ectop... |
ORPHA:2476 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Coxa valga, Patellar subluxation, Finger clinodactyly, Abnormal nu... |
ORPHA:2958 |
| Nail-Patella Syndrome |
|
Spondylolysis, Scoliosis, Talipes calcaneovalgus, Iliac horns, Patellar dislocation, Spondylolist... |
ORPHA:2614 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Clinodactyly of the 5th toe, Bifid uvula, Villous atrophy, Long fingers, Type I tran... |
OMIM:601110 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Hip dysplasia, Capitate-hamate fusion, Short metacarpal, Irregular epiph... |
OMIM:614078 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Clinodactyly, Scoliosis, Hip dysplasia, Peroneal muscle atrophy, Peroneal muscle weakness, Kyphos... |
OMIM:181405 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
| Crane-Heise Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Hypoplastic scapulae, Cleft palate, Hypoplasia... |
ORPHA:1512 |
| Kbg Syndrome |
|
Oligodontia, Scoliosis, Vertebral fusion, Thoracic kyphosis, Short neck, Finger clinodactyly, Cut... |
ORPHA:2332 |
| Atelosteogenesis Type Ii |
|
Increased femoral anteversion, Cleft palate, Hypoplastic cervical vertebrae, Short phalanx of fin... |
ORPHA:56304 |
| Constricting Bands, Congenital |
|
Encephalocele, Hand polydactyly, Scoliosis, Syndactyly, Cleft palate, Bladder exstrophy, Ectopia ... |
OMIM:217100 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis, Clinodact... |
ORPHA:3306 |
| Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Short thumb, Finger syndactyly, Abnormality of dental morphology, Everte... |
ORPHA:2251 |
| Nescav Syndrome |
|
Talipes equinovarus |
OMIM:614255 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Scoliosis, Ventricular septal defect, Widely spaced teeth, Deep philtrum, 3-4 finger... |
OMIM:612530 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Conical tooth, High palate, Scoliosis, Pes cavus, Tapered finger, Long fingers, Prominent fingert... |
OMIM:617773 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Scoliosis, Distal lower limb muscle weakness, Pes cavus, Pes valgus, Abnormality of the hand, Abn... |
ORPHA:99953 |
| Cousin Syndrome |
|
Cleft palate, Fibular aplasia, Microglossia, Joint contracture of the hand, Hydronephrosis, Campt... |
OMIM:260660 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsulinemia, Maturity... |
ORPHA:99886 |
| Boomerang Dysplasia |
|
Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Poorly... |
ORPHA:1263 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Myelomeningocele, Multiple renal cysts... |
ORPHA:66637 |
| Acromesomelic Dysplasia 3 |
|
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, W... |
OMIM:609441 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar... |
ORPHA:363417 |
| Congenital Myopathy 13 |
|
High palate, Scoliosis, Bilateral talipes equinovarus, Cleft palate, Downturned corners of mouth,... |
OMIM:255995 |
| Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis, Talipes equinovarus |
ORPHA:212 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Cardiomegaly, Thin upper lip vermilion |
OMIM:613576 |
| Poland Syndrome |
|
Dextrocardia, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Unilateral brachydactyly, Hypop... |
OMIM:173800 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Open mouth, Short neck, Everted lower lip vermilion, Patent foramen ovale, Talipes ... |
OMIM:616789 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus, Ventricular septal defect |
OMIM:209770 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus |
OMIM:606176 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Abnormality of amino acid metabolism |
ORPHA:220295 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Hip dislocation, Congenital hip dislocation, Femur fracture, Ulnar deviation of the ha... |
OMIM:618291 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial foot polydactyly, Umbilical hernia, Finger syndactyly, Preaxial foot polydactyly, Toe s... |
ORPHA:380 |
| Caudal Regression Syndrome |
|
Abnormal iliac wing morphology, Anal atresia, Scoliosis, Vesicoureteral reflux, Ectopic kidney, A... |
ORPHA:3027 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Down-sloping shoulders, High palate, Scoliosis, Ventricular septal defect, Atrial septal defect, ... |
OMIM:617452 |
| Ellis-Van Creveld Syndrome |
|
Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Abnormality of the alveola... |
OMIM:225500 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Genu varum, Finger syndacty... |
ORPHA:2633 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Scoliosis, Abnormality of fibula morphology, Absent or minimally ossified v... |
ORPHA:1190 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Atr... |
OMIM:220210 |
| Tarp Syndrome |
|
Hydronephrosis, High palate, Bilateral talipes equinovarus, Tetralogy of Fallot, Atrial septal de... |
OMIM:311900 |
| Isolated Osteopoikilosis |
|
Abnormal long bone morphology, Abnormality of limb bone, Abnormal pelvis bone morphology, Syndact... |
ORPHA:166119 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Agenesis of permanent teeth, Ventricular septal defect, Cleft palate, Broad thumb, Narrow mouth, ... |
ORPHA:251028 |
| Galloway-Mowat Syndrome 7 |
|
Minimal change glomerulonephritis, High palate, Proteinuria, Hallux valgus, Diffuse mesangial scl... |
OMIM:618348 |
| Wieacker-Wolff Syndrome |
|
Camptodactyly, Scoliosis, Hip dislocation, High palate, Short neck, Proximal placement of thumb, ... |
OMIM:314580 |
| Desbuquois Dysplasia 2 |
|
Hip dislocation, Bifid uvula, Advanced ossification of carpal bones, Cleft palate, Broad thumb, K... |
OMIM:615777 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... |
OMIM:602418 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Syndactyly, Microdontia, Cleft palate, Everted lower lip vermilion, Delayed eruption... |
OMIM:619736 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Cleft palate,... |
OMIM:147891 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Lumbar scoliosis, Thoracic scoliosis, Talipes equinovarus |
OMIM:616171 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Kyphosis, Clinodactyly of the... |
ORPHA:2635 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Deep palmar crease, Talipes calcaneovalgus, Cleft palate |
OMIM:600251 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... |
ORPHA:2019 |
| Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvul... |
OMIM:268305 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... |
OMIM:612576 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormal form of the vertebral bodies, Arrhinencephaly, Finger syndactyly, Abnormal pelvic girdle... |
ORPHA:1788 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Long philtrum, Talipes equinovarus |
OMIM:619972 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Scoliosis, Hip dislocation, Short neck, Radial deviation of the hand, Urinary incontinence, Kypho... |
OMIM:301041 |
| Larsen Syndrome |
|
Spondylolysis, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal defect, Short... |
OMIM:150250 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, High palate, Scoliosis, Ulnar deviation of finger, Aplasia/Hypoplasia of the tong... |
ORPHA:1358 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Oligodontia, Scoliosis, Atrial septal defect, Ventricular septal defect, Horseshoe kidney, Protei... |
OMIM:235510 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Macroglossia, Camptodactyly, High palate, Atrial septal defect, Oligosacchariduria, Broad philtru... |
ORPHA:397709 |
| Pfeiffer Syndrome |
|
Open mouth, High palate, Hip dysplasia, Short neck, Finger syndactyly, Synostosis of carpal bones... |
ORPHA:710 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Abnormal distal phalanx morphology of finger, Bowing of the long bones, Abnormal hip bone morphol... |
ORPHA:2725 |
| Atelosteogenesis Type Iii |
|
Abnormality of the humerus, Hip dislocation, Short tibia, Patellar dislocation, Knee dislocation,... |
ORPHA:56305 |
| Central Core Disease |
|
Congenital hip dislocation, Talipes equinovarus, Pes planus, Mitral valve prolapse, Kyphoscoliosi... |
ORPHA:597 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Short distal phalanx of finger, High palate, Polydactyly, Postaxial ... |
OMIM:614091 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Talon cusp, Syndactyly, Increased overbite, Broad thumb, Narrow palate, Dental maloc... |
OMIM:613684 |
| Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, High palate, Ventricular septal defect, Short neck, Overriding aorta, Short long bo... |
OMIM:617022 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Intrinsic hand muscle atrophy, Distal lower limb muscle weakness, Abnormality of the vertebral co... |
ORPHA:101097 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Perimembranous ve... |
OMIM:600987 |
| Arthrogryposis, Distal, Type 2A |
|
Scoliosis, Hip dislocation, Rocker bottom foot, Flexion contracture of finger, Shoulder flexion c... |
OMIM:193700 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Intestinal malrotation, Tetralogy of Fallot, Submucous cleft hard palate, Syndactyly, Clinodactyl... |
OMIM:614701 |
| Czeizel-Losonci Syndrome |
|
Hydronephrosis, High palate, Dextrocardia, 2-3 finger syndactyly, 3-4 finger syndactyly, Tracheoe... |
ORPHA:2437 |
| Martsolf Syndrome 1 |
|
Tooth malposition, Cardiomyopathy, Short toe, Thoracic scoliosis, Short phalanx of finger, Osteop... |
OMIM:212720 |
| Eem Syndrome |
|
Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Finger syndactyly, Microdontia, Abno... |
ORPHA:1897 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Overlapping fingers, Rocker bottom foot, Talipes equinovarus |
OMIM:618266 |
| Split-Hand/Foot Malformation 3 |
|
Camptodactyly, High palate, Cleft palate, Narrow mouth, Renal hypoplasia, Split hand |
OMIM:246560 |
| Atelosteogenesis, Type I |
|
Clubbing, Short metatarsal, Cleft palate, Multinucleated giant chondrocytes in epiphyseal cartila... |
OMIM:108720 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Ventricular septal defect, Serrated incisors, Abnormality of dental morpholog... |
OMIM:272440 |
| Arthrogryposis, Distal, Type 5 |
|
Absent phalangeal crease, Scoliosis, High palate, Bilateral talipes equinovarus, Limited wrist ex... |
OMIM:108145 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Penoscrotal transposition, Single transverse palmar crease, Camptodactyly, Irregular... |
OMIM:619148 |
| Lethal Congenital Contracture Syndrome 11 |
|
Camptodactyly, Flexion contracture of finger, Bilateral talipes equinovarus, Elbow flexion contra... |
OMIM:617194 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Cleft palate, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Syndactyly, Abnormal he... |
ORPHA:1445 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Pes planus, Atrial septal defect, Ventricular septal defect, Pes valgus, Abnormal heart morpholog... |
ORPHA:477817 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip dislocation, Ventricular septal defect, Atrial septal defect, Advanced ossification of carpal... |
OMIM:271640 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Camptodactyly, Scoliosis, Pursed lips, Short neck, Calcaneovalgus deformity, Umbilical hernia, Kn... |
OMIM:616266 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the dentition, Short neck... |
ORPHA:2994 |
| Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, High palate, Proteinuria, Diffuse mesangial sclerosis, Stage 5... |
OMIM:616730 |
| Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Scol... |
ORPHA:1520 |
| Laing Early-Onset Distal Myopathy |
|
Abnormality of the calf musculature, High palate, Scoliosis, Toe extensor amyotrophy, Dilated car... |
ORPHA:59135 |
| Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Cleft palate, Dental malocclusion, Talipes equinovarus, Kypho... |
OMIM:608545 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal palate morphology, Short neck, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Abnormality of the tibial plateaux, Cleft palate, Hump-shaped mound of bone in central... |
ORPHA:93284 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, High palate, Hip dislocation, Lumbar hyperlordosis, Dislocated radial head, Hypopl... |
OMIM:602471 |
| Verheij Syndrome |
|
Scoliosis, Vertebral fusion, Hip dislocation, Ventricular septal defect, Short neck, Renal cyst, ... |
OMIM:615583 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Spina bifida occulta, Vertebral segmentation defect, Brachydactyly |
ORPHA:2956 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Anal atresia, Short neck, Abnormality of the vertebral col... |
ORPHA:2345 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus |
OMIM:613710 |
| Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Scoliosis, Hip dislocation, Selective tooth agenesis, Abnormality... |
OMIM:311300 |
| Chromosome 18Q Deletion Syndrome |
|
Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Ventricular septal defect, Atrial septal defe... |
OMIM:601808 |
| Spastic Paraplegia 86, Autosomal Recessive |
|
Talipes equinovalgus, Scoliosis, Bilateral talipes equinovarus |
OMIM:619735 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Decreased sialylation of O-lin... |
ORPHA:356961 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Scoliosis, Open mouth, Atrial septal defect, Ventricular septal defect, Talipes eq... |
OMIM:301039 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Narrow mouth, Downturned corners of mouth, Long philtrum, Talipes equinovarus, Cer... |
OMIM:617333 |
| Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Camptodactyly, Scoliosis, High palate, Hip dysplasia, Talipes equinovarus, Pes planus, Arachnodac... |
OMIM:617146 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Scoliosis, Hip dislocation, Hallux valgus, Hyperextensibility of the finger joints, Kyphosis, Bla... |
OMIM:617821 |
| Myopathy, Myofibrillar, 7 |
|
Enuresis nocturna, Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Pes cavus, Urinary inconti... |
OMIM:617114 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Median cleft palate, Absent tibia, Bilateral talipes equinovarus, Patellar hypoplasia, Preaxial f... |
OMIM:119800 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Hip dislocation, Talipes calcaneovalgus, Rocker bottom foot, Cleft palate, Narrow mout... |
OMIM:265000 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Scoliosis, Pes cavus, Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations |
OMIM:601596 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Atrial septal defect, Proximal placement of thumb, Horseshoe kidney, Short metat... |
OMIM:609945 |
| Morgagni-Stewart-Morel Syndrome |
|
Cognitive impairment, Abnormal metabolism, Suicidal ideation, Memory impairment |
ORPHA:77296 |
| Cantú Syndrome |
|
Deep plantar creases, Short distal phalanx of finger, Broad hallux phalanx, Abnormal metaphysis m... |
ORPHA:1517 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal def... |
ORPHA:99776 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615035 |
| Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Short distal phalanx of finger, Scoliosis, Camptodactyly, High palate, A... |
OMIM:300963 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Thoracic kyphosis, Ovoid vertebral bodies, Short neck, Flattened epiphysis, Flat ace... |
ORPHA:163649 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hypoplastic ilia, Short neck, Broad long bones, Abnormal heart morphology, Anisosp... |
ORPHA:1865 |
| Catel-Manzke Syndrome |
|
Scoliosis, Bifid uvula, Ventricular septal defect, Cleft palate, Narrow mouth, Short toe, Single ... |
OMIM:616145 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| 3C Syndrome |
|
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of ... |
ORPHA:7 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Scoliosis, Short neck, Meningocele, Umbilical hernia, Abnormality of the... |
ORPHA:2311 |
| Aarskog-Scott Syndrome |
|
Scoliosis, Cleft palate, Short 5th finger, Single transverse palmar crease, Pes planus, Cleft upp... |
OMIM:305400 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Cervical spine instabilit... |
OMIM:615349 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Umbilical hernia, 1-3 to... |
OMIM:175700 |
| Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Selective tooth agenesis, Hy... |
OMIM:305620 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... |
OMIM:258860 |
| Van Den Ende-Gupta Syndrome |
|
Cleft palate, Narrow mouth, Narrow foot, Joint contracture of the hand, Camptodactyly of toe, Hal... |
OMIM:600920 |
| Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Cervical kyphosis, Kyphoscoliosis, Talipes equinovarus |
OMIM:617662 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Hamar... |
OMIM:217085 |
| Developmental And Epileptic Encephalopathy 91 |
|
Short philtrum, Thick vermilion border, Talipes equinovarus, Single transverse palmar crease |
OMIM:617711 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Broad distal phalanges of all fingers, Scoliosis, Hip dislocation, Atrial septal defect, Shoulder... |
OMIM:245600 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus, Syndactyly |
OMIM:215850 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Tetralogy of Fallot, Atrial septal defect, Atrioventricular canal d... |
OMIM:274000 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enuresis, Short distal phalanx of finger, Scoliosis, Hip dysplasia, Widely spaced teeth, Microdon... |
OMIM:619293 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Narrow palate, Scoliosis, Talipes equinovarus |
OMIM:617481 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Short neck, Horseshoe kidney, Cystic renal dysplasia, Cleft palate, Unossified s... |
OMIM:608022 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Micropenis, Bifid uvula, Postaxial polydactyly, Renal ... |
OMIM:614175 |
| Cardiospondylocarpofacial Syndrome |
|
Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carpal bones, High, narro... |
ORPHA:3238 |
| Moebius Syndrome |
|
Open mouth, Absent hand, Tooth agenesis, High palate, Aplasia/Hypoplasia of the tongue, Aplasia/H... |
ORPHA:570 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Hydronephrosis, Postaxial foot polydactyly, Butterfly vertebrae, Vesicoureteral reflu... |
OMIM:301056 |
| Giant Axonal Neuropathy |
|
Scoliosis, Pes cavus, Abnormal hand morphology, Abnormality of the Achilles tendon, Talipes equin... |
ORPHA:643 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Ventricular septal defect, Short neck, Fused cervical vertebrae, Cleft palate, Cervica... |
OMIM:214300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Scoliosis, Bifid uvula, Narrow palm, Short neck, Vertebral compression fracture, Cleft palate, Lo... |
OMIM:309583 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| White Forelock With Malformations |
|
Abnormal palate morphology, Atrial septal defect, Deep philtrum, Finger syndactyly, Spina bifida ... |
ORPHA:2475 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Radial club hand, Abnormality of the vertebral column, Abnormal heart morphology, A... |
OMIM:276950 |
| Dystonia, Dopa-Responsive |
|
Pes cavus, Scoliosis, Talipes equinovarus |
OMIM:128230 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... |
ORPHA:3258 |
| Bruck Syndrome |
|
Scoliosis, Kyphosis, Platyspondyly, Talipes equinovarus, Bowing of the long bones |
ORPHA:2771 |
| Multiple Synostoses Syndrome 1 |
|
