Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
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 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormal hip bone morphology, Upper limb phocom... |
ORPHA:294975 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Narrow mouth, Talipes equinovarus, Adducted thumb, Talipes equinovalgus, Overlapping f... |
OMIM:618435 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Memory impairment |
ORPHA:79234 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... |
OMIM:619110 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... |
OMIM:615072 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... |
OMIM:226900 |
Brachydactyly Type A4 |
|
Talipes equinovarus, Shortening of all middle phalanges of the toes, Short middle phalanx of the ... |
ORPHA:93394 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... |
ORPHA:93359 |
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 |
Aase-Smith Syndrome |
|
Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone morphology, Camptodactyly of... |
ORPHA:916 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia |
OMIM:613618 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Scoliosis, Ta... |
ORPHA:376 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hypoplastic cervica... |
OMIM:222600 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Crossed Polysyndactyly |
|
Hypoplasia of penis, Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia ... |
ORPHA:2935 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Cognitive impairment |
ORPHA:673 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Cleft palate, Bifid humerus, ... |
OMIM:256050 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
Pseudodiastrophic Dysplasia |
|
Talipes equinovarus, Platyspondyly, Scoliosis, Phalangeal dislocation, Rhizomelia, Elbow dislocation |
ORPHA:85174 |
Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
Arthrogryposis, Distal, Type 7 |
|
Talipes equinovarus, Cutaneous syndactyly of toes, Hammertoe, Deep philtrum, Metatarsus adductus,... |
OMIM:158300 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the dentition, Scoliosis, Radioulnar synostosis, A... |
ORPHA:3268 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Horizontal sac... |
OMIM:108721 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Arthrogryposis, Distal, Type 1B |
|
Rocker bottom foot, Talipes equinovarus, Joint contracture of the hand, Camptodactyly |
OMIM:614335 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... |
OMIM:618845 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate, Renal hypoplasia, Hand polydactyly |
OMIM:236110 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Micropenis, Cutaneous finger syndactyly, Hypoplastic sacrum, Hemiv... |
OMIM:113000 |
Sprengel Deformity |
|
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Short n... |
ORPHA:3181 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Rocker bottom foot |
OMIM:616570 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Platyspondyl... |
ORPHA:85172 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Arthrogryposis, Distal, Type 2B3 |
|
Talipes equinovarus, Overlapping fingers, Scoliosis, Camptodactyly, Hallux valgus |
OMIM:618436 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Distal upper limb muscle weakness, Talipes equinovarus, Pes cavus, Tongue fasciculations, Scapula... |
OMIM:619216 |
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... |
OMIM:300209 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Pes plan... |
OMIM:600175 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Sacral meningocele, Limb duplication, Hand polydactyly, Hip disloc... |
OMIM:223200 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Knee dislo... |
ORPHA:178145 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation |
OMIM:300434 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Vertebral segmentation defect, Butterfly vertebrae, Abnormal isoelectric focusing of... |
OMIM:611209 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... |
OMIM:211960 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Hyperekplexia 4 |
|
High palate, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Camptodactyly, Umbilical hernia |
OMIM:618011 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Knee flexion contracture, Tongue atrophy, Upper limb amyotro... |
ORPHA:496689 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Cystinuria |
|
Nephrolithiasis, Abnormality of amino acid metabolism, Hematuria, Renal insufficiency |
ORPHA:214 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Narrow mouth, Kyphoscoliosis, Talipes equinovarus, Short neck, Long philtrum, Ulnar ... |
OMIM:277720 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Cleft palate, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervica... |
OMIM:618469 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... |
ORPHA:93307 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip ... |
ORPHA:1326 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Arthrogryposis, Distal, Type 11 |
|
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... |
OMIM:620019 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Overlapping toe, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Cleft pa... |
OMIM:114300 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Talipes equinovarus, Peroneal muscle atrophy |
OMIM:181400 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... |
OMIM:619868 |
Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
Erythema Of Acral Regions |
|
Abnormality of the dentition, Talipes equinovarus |
OMIM:227000 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Talipes equinovarus, Tongue-like lumbar vertebral deformities, Short neck, ... |
OMIM:264180 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... |
DECIPHER:46 |
Heart-Hand Syndrome, Slovenian Type |
|
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... |
OMIM:601560 |
Ventriculomegaly And Arthrogryposis |
|
Talipes equinovarus, Hand clenching, Ulnar deviation of the wrist |
OMIM:619501 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Talipes equinovarus, Small thenar eminence, Pes cavus, Scoliosis, Small hypothenar eminence, Dist... |
OMIM:609311 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Short neck, Polydactyly, Postaxial hand polyd... |
OMIM:613885 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Impairment of fructose metabolism |
ORPHA:2056 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Talipes equinovarus, Pes cavus, Hyporeflexia of lower limbs, Scoliosis, Hyperlordosis, ... |
OMIM:615290 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Weaver Syndrome |
|
Talipes equinovarus, Hypoplasia of penis, Camptodactyly of finger, Pes cavus, Long philtrum, Scol... |
ORPHA:3447 |
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 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Talipes equinovarus, Overlapping fingers, Congenital hip dislocation, Scoliosis, Abnorm... |
OMIM:618291 |
Masa Syndrome |
|
Kyphosis, Talipes equinovarus, Adducted thumb, Pes cavus, Hyperlordosis |
OMIM:303350 |
Arthrogryposis, Distal, Type 2E |
|
Narrow mouth, Talipes equinovarus, Joint contracture of the hand |
OMIM:121070 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia... |
ORPHA:1988 |
Classic Homocystinuria |
|
High palate, Kyphosis, Arachnodactyly, Scoliosis, Abnormality of amino acid metabolism, Genu valg... |
ORPHA:394 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Radial deviation of the 2nd f... |
ORPHA:1388 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... |
OMIM:619980 |
Carpenter Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polyd... |
ORPHA:65759 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy ... |
OMIM:616145 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis, Abnormal morphology of ulna, Abnormal metaphysis morphology, Abnormal hip bone m... |
ORPHA:1837 |
Arthrogryposis, Distal, Type 2B1 |
|
High palate, Narrow mouth, Talipes equinovarus, Camptodactyly of finger, Long philtrum, Scoliosis... |
OMIM:601680 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... |
ORPHA:2631 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Triangular mouth, Spindle-shaped finger, Cutaneous syndactyly, G... |
ORPHA:166024 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Talipes equinovarus, Joint contracture of the hand, Scoliosis, Hyperlordosis |
OMIM:611067 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Malabsorption, Gingival overgrowth, Aspartylglucosaminuria, Abnormal... |
ORPHA:93 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Talipes equinovarus, Abnormal glycosylation, Hyperlordosis |
OMIM:611588 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... |
ORPHA:957 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Cleft palate, Arachnodactyly, Large hands, Cleft lip, Pes planus, Thoracic kyphosis, Long toe |
OMIM:300263 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Arthrogryposis, Distal, Type 1A |
|
Overlapping toe, Narrow mouth, Talipes equinovarus, Joint contracture of the hand, Adducted thumb... |
OMIM:108120 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Upper limb amyotrophy, Talipes equinovarus |
ORPHA:99940 |
Cousin Syndrome |
|
Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th finger,... |
OMIM:260660 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly, Micropenis |
OMIM:615983 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Talipes equinovarus, Camptodactyly of finger, Short neck, Long philtrum, Brachydactyly, Slender l... |
OMIM:211920 |
Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... |
ORPHA:1406 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Talipes equinovarus, Areflexia of lower limbs, Hip dysplasia, Short neck, ... |
OMIM:611890 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Lambert Syndrome |
|
Wide mouth, Talipes equinovarus, Hypospadias |
OMIM:245550 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, Syndactyly, Microdontia, Camptodactyly, Widely spaced teeth, Split... |
OMIM:225280 |
Kury-Isidor Syndrome |
|
High palate, Talipes equinovarus, Triangular mouth, Short neck, Long philtrum, Brachydactyly, Sco... |
OMIM:619762 |
Microtriplication 11Q24.1 |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Irregularly spaced teeth, Cleft palate, Smal... |
ORPHA:289522 |
Acrofacial Dysostosis, Palagonia Type |
|
Cleft upper lip, Oligodontia, Scoliosis, Spina bifida occulta at S1, Unilateral cleft lip, Short ... |
OMIM:601829 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Talipes equinovarus, Overlapping fingers, Knee flexion cont... |
OMIM:616531 |
Moebius Syndrome |
|
High palate, Talipes equinovarus, Micropenis, Abnormality of the dentition, Short neck, Brachydac... |
OMIM:157900 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Abnormality of amino acid metabolism |
ORPHA:28378 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Camptodactyly of 2nd-5th fingers,... |
OMIM:609128 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Tarsal synostosis, Humer... |
OMIM:610017 |
Prieto Syndrome |
|
Talipes equinovarus, Abnormality of the dentition, Patellar subluxation, Clinodactyly, Patellar d... |
OMIM:309610 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... |
OMIM:206920 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Short distal phalanx of finger, Abnormality of the tongue, Kyphosis, Cleft palate, P... |
ORPHA:3098 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Pursed lips, Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Ante... |
OMIM:255800 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
1Q21.1 Microduplication Syndrome |
|
Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Hip dislocation, Hip dysplasia |
ORPHA:250994 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Dental crowding, Talipes equinovarus, Macroglossia, Long philtrum, Delayed eruption ... |
OMIM:616354 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
Tibial Hemimelia |
|
Cleft palate, Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus... |
ORPHA:93322 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... |
OMIM:615349 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
2Q32Q33 Microdeletion Syndrome |
|
High palate, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... |
ORPHA:251019 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... |
OMIM:300244 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Talipes equinovarus, Cleft palate, Camptodactyly of finger, Scoliosis, Tongue fascic... |
OMIM:614399 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Cleft palate, Atlantoaxial instab... |
OMIM:183900 |
Arthrogryposis, Distal, Type 5D |
|
Talipes equinovarus, Cleft palate, Adducted thumb, Short neck, Scoliosis, Camptodactyly, Hyperlor... |
OMIM:615065 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Abnormal cardiac septum morphology, Talipes equinovarus, Micropenis, Hypospadias, Brachydactyly, ... |
OMIM:612626 |
Nemaline Myopathy 11, Autosomal Recessive |
|
High palate, Talipes equinovarus, Pes cavus, Scapular winging, Cardiomyopathy |
OMIM:617336 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Hip dislocation |
OMIM:616756 |
Roussy-Lévy Syndrome |
|
Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Kyphoscoliosis, Talipes equ... |
ORPHA:3115 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Low ... |
ORPHA:1248 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus, Scoliosis |
OMIM:601382 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Sh... |
OMIM:236500 |
Spastic Paraplegia 47, Autosomal Recessive |
|
High palate, Wide mouth, Talipes equinovarus, Genu recurvatum, Short philtrum, Pes planus, Acetab... |
OMIM:614066 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Ulnar claw, Talipes equinovarus, Pes cavus, Hammertoe, Split hand |
OMIM:604563 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Enlarged kidney, Hypoplasia of the ulna, Sho... |
OMIM:613091 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Talipes equinovarus, High, narrow palate, Joint contracture of the hand... |
ORPHA:536516 |
Holt-Oram Syndrome |
|
Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal defect, Hypoplasi... |
OMIM:142900 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... |
OMIM:184250 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615683 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Kyphoscoliosis, Talipes equinovarus |
OMIM:607831 |
Aarskog-Scott Syndrome |
|
Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of teeth, Single transve... |
ORPHA:915 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia/Hypoplasia of ... |
ORPHA:2839 |
Mehmo Syndrome |
|
Talipes equinovarus, Hypoplasia of penis, Micropenis, Tapered finger, Downturned corners of mouth... |
ORPHA:85282 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Talipes equinovarus, Macroglossia, Triangular tongue, Calf muscle hypertrophy, Dilated cardiomyop... |
OMIM:616827 |
Spastic Paraplegia 50, Autosomal Recessive |
|
High palate, Wide mouth, Talipes equinovarus, Adducted thumb, Short philtrum |
OMIM:612936 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Contractural Arachnodactyly, Congenital |
|
High palate, Short neck, Ulnar deviation of finger, Ventricular septal defect, Bowing of the long... |
OMIM:121050 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Pes cavus, Ulnar claw, Talipes equinovarus, Scoliosis |
OMIM:608340 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Thoracic scoliosis, Joint contracture of the hand, Cleft palate, Arachnodactyly, Oli... |
OMIM:600325 |
Lethal Kniest-Like Dysplasia |
|
Hypoplastic vertebral bodies, Talipes equinovarus, Atrial septal defect, Cleft palate, Hypoplasti... |
ORPHA:2347 |
Bruck Syndrome 1 |
|
Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Protrusio acetabuli, Elbow fl... |
OMIM:259450 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Talipes equinovarus, Bilateral coxa valga, Clinodactyly of the 4th toe, Finger clinodactyly, Scol... |
OMIM:611182 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Intestinal malrotation, Syndactyly, Carious teet... |
OMIM:613684 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Narrow mouth, Talipes equinovarus, Adducted thumb, Arachnodactyly, Long philtrum, Ca... |
OMIM:615539 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Slender finger, Talipes equinovarus, Long fingers, L... |
OMIM:613355 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... |
OMIM:616716 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal foot morphology, Abnormal vertebr... |
ORPHA:64754 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Clinodactyly of the 5th finger, Talipes equinovarus, Hydroureter, Hip dysplasia,... |
OMIM:617219 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Cleft palate, Bilateral talipes ... |
OMIM:269250 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb underg... |
ORPHA:56304 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
High palate, Narrow mouth, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Short neck, Long ... |
OMIM:272430 |
Charcot-Marie-Tooth Disease Type 4A |
|
Hand muscle weakness, Joint contracture of the hand, Bilateral talipes equinovarus, Limited inter... |
ORPHA:99948 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:613162 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Abnormality of finger, Movement abnormality of the tongue, Bilateral talipes equinovarus |
ORPHA:2560 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... |
OMIM:608571 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Wide mouth, Long philtrum, Scoliosis, Abnormality of the wrist, Abnormal thumb morphology, Deep p... |
ORPHA:1825 |
Sillence Syndrome |
|
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... |
ORPHA:3168 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Cleft palate, Horseshoe kidne... |
ORPHA:3320 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Abnormal vertebral morphology, Fin... |
ORPHA:261272 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Deep palmar crease, Long philt... |
OMIM:619451 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Abnormali... |
OMIM:239800 |
Hypomelanosis Of Ito |
|
Kyphosis, Irregularly spaced teeth, Syndactyly, Scoliosis, Radial deviation of finger, Clinodacty... |
OMIM:300337 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly, Renal cyst |
OMIM:615982 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hypodontia, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... |
OMIM:603543 |
Autosomal Recessive Centronuclear Myopathy |
|
High palate, Narrow mouth, Talipes equinovarus, Left ventricular hypertrophy, Pes cavus, Bifid uv... |
ORPHA:169186 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Talipes equinovarus, Anisospondyly, Bowing of the long bones, Short long bone |
OMIM:224410 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... |
OMIM:605282 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Talipes equinovarus |
OMIM:130010 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Scoliosis, Oral cleft, Radioulnar s... |
ORPHA:2319 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip |
OMIM:300484 |
Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Cutaneous syndactyly of toes, Microdontia, ... |
OMIM:225000 |
Fructose And Galactose Intolerance |
|
Galactose intolerance, Fructose intolerance |
OMIM:229500 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:616278 |
Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... |
OMIM:244600 |
Marden-Walker Syndrome |
|
High palate, Kyphosis, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Micr... |
OMIM:248700 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Syndactyly, Premature loss of primary teeth, Microdontia, Scoliosis, Widely spaced teeth, Broad t... |
OMIM:617364 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Vertebral segmentation defect, Atrial septal defect, Inte... |
ORPHA:2970 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Short philtrum, Syndactyly... |
OMIM:300963 |
Freeman-Sheldon Syndrome |
|
Narrow mouth, Talipes equinovarus, Abnormality of the dentition, Camptodactyly of finger, Long ph... |
ORPHA:2053 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Narrow mouth, Talipes equinovarus, Short tibia, Short philtrum, Sin... |
OMIM:201170 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Type I transferrin isoform profile, Talipes equinovarus, Joint contracture of the ha... |
OMIM:601110 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified vertebrae, Apla... |
ORPHA:1263 |
Aase-Smith Syndrome I |
|
Talipes equinovarus, Slender finger, Cleft palate, Ventricular septal defect, Open mouth |
OMIM:147800 |
Monosomy 5P |
|
High palate, Small hand, Short neck, Scoliosis, Finger syndactyly |
ORPHA:281 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Cleft palate, Abnormal vertebral segmentation and fusi... |
ORPHA:90650 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Micropenis, Unilateral renal agenesis, Bilate... |
OMIM:618142 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Abnormality of the upper limb, Horseshoe kidney, Sandal g... |
ORPHA:1106 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Tricuspid stenosis, Short neck, Delayed eruption of teeth, Microdontia, Hypoplasia o... |
OMIM:143095 |
Holt-Oram Syndrome |
|
Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent... |
ORPHA:392 |
Atelosteogenesis Type I |
|
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... |
ORPHA:1190 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Abnormality of finger, Atrial septal defect, High, narrow palate, Cleft palate, ... |
ORPHA:436003 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Short neck, Heparan sulfate excretion in urine, Platyspondy... |
OMIM:253220 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Talipes equinovarus, Camptodactyly of finger, Tapered finger, Clinodactyly, Short palm |
ORPHA:85279 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Talipes equinovarus, Thoracic scoliosis, Adducted thumb, Overlapping ... |
OMIM:617022 |
Tarp Syndrome |
|
High palate, Short sternum, Talipes equinovarus, Cleft palate, Postaxial polydactyly, Glossoptosi... |
OMIM:311900 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Nescav Syndrome |
|
Talipes equinovarus |
OMIM:614255 |
Nail-Patella Syndrome |
|
Cleft palate, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps aplasia, Trice... |
OMIM:161200 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Talipes equinovarus, Arachnodactyly, Hyperext... |
ORPHA:505237 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Talipes equinovarus, Scoliosis |
OMIM:616155 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Anal atresia, Talipes equinovarus, Thoracolumbar scoliosis, Renal hypoplasia, Urethral obstructio... |
OMIM:601389 |
Kniest-Like Dysplasia, Lethal |
|
Metaphyseal irregularity, Narrow mouth, Hypoplastic vertebral bodies, Atrial septal defect, Talip... |
OMIM:245190 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Adducted thumb, Bil... |
OMIM:618484 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Aplasia/Hypoplasia of the ulna, Cleft palate, Hand oligodactyly, Hy... |
OMIM:602418 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Low levels of vitamin E, Abnormality of amino acid metabolism, Hypertrophic cardiomyopathy, Esoph... |
ORPHA:309854 |
Perrault Syndrome 1 |
|
High palate, Pes cavus, Talipes equinovarus, Scoliosis |
OMIM:233400 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Cleft palate, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
Mohr Syndrome |
|
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication of the phalanges... |
OMIM:252100 |
Teebi-Shaltout Syndrome |
|
Wide mouth, Narrow mouth, Ulnar deviation of the hand, Aortic valve stenosis, High, narrow palate... |
OMIM:272950 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Finger clinodactyly, Patellar subluxation, Abnormal number of inci... |
ORPHA:2958 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
Nail-Patella Syndrome |
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Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... |
ORPHA:2614 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Bilateral talipes equinovarus |
OMIM:616486 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Delayed eruption ... |
ORPHA:2712 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
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Syndactyly, Ventricular septal defect, Hypoplasia of the ulna, Renal cyst, Renal hypoplasia, Meso... |
OMIM:228940 |
Charcot-Marie-Tooth Disease Type 4G |
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Distal upper limb muscle weakness, Talipes equinovarus, Abnormality of the hand, Pes cavus, Scoli... |
ORPHA:99953 |
Inverted Duplicated Chromosome 15 Syndrome |
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High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Unilateral ... |
ORPHA:3306 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Talipes equinovarus, Hypoplasia of penis, Cleft palate, Abnormall... |
ORPHA:1512 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Vertebral segmentation defect, Talipes equinovarus, Cleft palate, 3... |
OMIM:612530 |
Metatropic Dysplasia |
|
Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of f... |
ORPHA:2635 |
Kbg Syndrome |
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Cleft palate, Vertebral fusion, Oligodontia, Cutaneous syndactyly, Macrodontia, Long philtrum, Fi... |
ORPHA:2332 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
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Long philtrum, Tented upper lip vermilion, Talipes equinovarus |
OMIM:619972 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Short neck, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasia, C... |
OMIM:272460 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... |
OMIM:614091 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
High palate, Talipes equinovarus, Prominent fingertip pads, Pes cavus, Scoliosis, Tapered finger,... |
OMIM:617773 |
Scapuloperoneal Spinal Muscular Atrophy |
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Scapular muscle atrophy, Peroneal muscle weakness, Kyphosis, Talipes equinovarus, Small hand, Sco... |
OMIM:181405 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Everted lower lip vermilion, Camptodactyly of finger, Short thumb, Triphalangeal thumb, Palmoplan... |
ORPHA:2251 |
Caudal Regression Syndrome |
|
Anal atresia, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morphology, ... |
ORPHA:3027 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... |
ORPHA:2476 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Ankle flexion contracture, Internally rotated shoulders, Talipes equinovarus, Campto... |
OMIM:617468 |
Myopathy, Centronuclear, 2 |
|
High palate, Kyphosis, Talipes equinovarus, Pes cavus, Scoliosis, Hyperlordosis, Scapular winging |
OMIM:255200 |
Ectrodactyly-Cleft Palate Syndrome |
|
Split hand, Cleft palate |
OMIM:129830 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide mouth, Narrow mouth, Talipes equinovarus, Short philtrum, Long philtrum, Camptodactyly, Down... |
OMIM:617333 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Cleft palate, Abnormally ossified vertebrae, Abnormality of limb... |
ORPHA:166119 |
Acrofacial Dysostosis 1, Nager Type |
|
Wide mouth, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricu... |
OMIM:154400 |
Constricting Bands, Congenital |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Syndactyly, Scoliosis, Bladder exstrophy, Ect... |
OMIM:217100 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cleft palate, Abnormal form of the vertebral bodies, Limb underg... |
ORPHA:3429 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Hydronephrosis, Spli... |
OMIM:183802 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Short neck, Patent fo... |
OMIM:616789 |
Poland Syndrome |
|
Unilateral oligodactyly, Hemivertebrae, Unilateral brachydactyly, Syndactyly, Dextrocardia, Hypop... |
OMIM:173800 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, Rhizomelia, Multinucleated giant chondr... |
OMIM:108720 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Cystathioninuria |
|
Nephrolithiasis, Talipes equinovarus, Cystathioninuria |
ORPHA:212 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Distal upper limb ... |
ORPHA:101097 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syn... |
OMIM:263540 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne... |
ORPHA:251028 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Horseshoe kidney, Pericard... |
OMIM:235510 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Short h... |
OMIM:314390 |
Ellis-Van Creveld Syndrome |
|
Cleft upper lip, Acetabular spurs, Abnormality of the alveolar ridges, Atrial septal defect, Hypo... |
OMIM:225500 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
Larsen Syndrome |
|
Cleft palate, Talipes equinovalgus, Ventricular septal defect, Elbow dislocation, Cleft upper lip... |
OMIM:150250 |
Desbuquois Dysplasia 2 |
|
Cleft palate, Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Single... |
OMIM:615777 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion, Cardiomegaly |
OMIM:613576 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
High palate, Overlapping toe, Atrial septal defect, Talipes equinovarus, Down-sloping shoulders, ... |
OMIM:617452 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad thumb, Postaxi... |
ORPHA:380 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615035 |
Wieacker-Wolff Syndrome |
|
High palate, U-Shaped upper lip vermilion, Kyphosis, Talipes equinovarus, Palmar hyperkeratosis, ... |
OMIM:314580 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... |
OMIM:603671 |
Galloway-Mowat Syndrome 7 |
|
High palate, Kyphoscoliosis, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Arach... |
OMIM:618348 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
High palate, Dental crowding, Kyphoscoliosis, Atrial septal defect, Oligosacchariduria, Macroglos... |
ORPHA:397709 |
Atelosteogenesis Type Iii |
|
High palate, Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation,... |
ORPHA:56305 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd... |
OMIM:618316 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Wide capital f... |
OMIM:147891 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Hand oligodactyly, Abnormal form of the vert... |
ORPHA:1788 |
Laing Early-Onset Distal Myopathy |
|
High palate, Abnormality of the calf musculature, Toe extensor amyotrophy, Scoliosis, Dilated car... |
ORPHA:59135 |
Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
Carey-Fineman-Ziter Syndrome |
|
High palate, Talipes equinovarus, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, T... |
ORPHA:1358 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... |
ORPHA:766 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Narrow mouth, Talipes equinovarus, Cleft palate, Hypoplastic ilia, Short neck... |
ORPHA:1865 |
Eem Syndrome |
|
Ectrodactyly, Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Abnormality of ... |
ORPHA:1897 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Nievergelt Syndrome |
|
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... |
OMIM:619148 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Talipes equin... |
OMIM:618150 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Syndactyly, Scoliosis, Narrow palm, Clinodactyly, Thoracic ... |
ORPHA:1445 |
Filippi Syndrome |
|
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... |
OMIM:272440 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Hypospadi... |
OMIM:619736 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... |
OMIM:614701 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... |
ORPHA:2725 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Short neck, Platyspo... |
OMIM:271640 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus |
OMIM:613710 |
Martsolf Syndrome 1 |
|
High palate, Finger joint hypermobility, Short philtrum, Broad fingertip, Talipes equinovarus, To... |
OMIM:212720 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Pursed lips, Short neck, Rocker bottom foot, Talipes ... |
OMIM:193700 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum, Kyphosis, Talipes equinovarus, Hyperextensibility of the finger joints, Sco... |
OMIM:617821 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricula... |
ORPHA:99776 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Short philtrum, Short neck, Ventricular septal defect, Umbilical hernia, Rocker bot... |
OMIM:601808 |
Central Core Disease |
|
Kyphoscoliosis, Talipes equinovarus, Congenital hip dislocation, Mitral valve prolapse, Pes planus |
ORPHA:597 |
Arthrogryposis, Distal, Type 5 |
|
High palate, Decreased palmar creases, Bilateral talipes equinovarus, Arachnodactyly, Limited wri... |
OMIM:108145 |
Pfeiffer Syndrome |
|
High palate, Clinodactyly of the 5th finger, Short philtrum, Short neck, Synostosis of carpal bon... |
ORPHA:710 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Ectopic anus, Short distal phalanx of finger, Cleft palate, Arachnodactyly, Abnormality of the de... |
ORPHA:2994 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Horseshoe kidney, U-Sh... |
OMIM:609945 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Shortening of all metacarpals, Platyspondyly, Limb undergrowth, Me... |
OMIM:601356 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Multiple ... |
ORPHA:66637 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
U-Shaped upper lip vermilion, Kyphosis, Talipes equinovarus, Cleft palate, Short neck, Long philt... |
OMIM:301041 |
Larsen-Like Syndrome |
|
Dental malocclusion, Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes equinovarus, Cleft p... |
OMIM:608545 |
Prune Belly Syndrome |
|
Anal atresia, Talipes equinovarus, Hydroureter, Xerostomia, Congenital hip dislocation, Hydroneph... |
OMIM:100100 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Talipes equinovarus, Pes cavus, Scoliosis, Hammertoe, Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Achondrogenesis Type 1B |
|
Talipes equinovarus, Short neck, Long philtrum, Micromelia, Short foot, Umbilical hernia |
ORPHA:93298 |
Czeizel-Losonci Syndrome |
|
High palate, Ectrodactyly, Myelomeningocele, Congenital megaureter, Split foot, Tracheoesophageal... |
ORPHA:2437 |
Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis... |
ORPHA:1427 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Scoliosis, Urinary incontinence |
OMIM:615284 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Cleft palate, Camptodactyly, Renal hypoplasia, Split hand |
OMIM:246560 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, T... |
ORPHA:477817 |
Cantú Syndrome |
|
Short distal phalanx of finger, Wide mouth, Deep plantar creases, Finger syndactyly, Broad hallux... |
ORPHA:1517 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Abnormality of amino acid metabolism |
ORPHA:220295 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Talipes equinovarus, Pursed lips, Adducted thumb, Short neck, Long philtrum, Scoliosis, Camptodac... |
OMIM:616266 |
6P22 Microdeletion Syndrome |
|
Short neck, Clinodactyly, Hydronephrosis, Abnormal palate morphology, Finger syndactyly |
ORPHA:251046 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
High palate, Talipes equinovarus, Arachnodactyly, Scoliosis, Camptodactyly, Pes planus, Sandal ga... |
OMIM:617146 |
Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Talipes equinovarus, Spinal rigidity, Pes cavus, Scoliosis, Thoracic kyphos... |
OMIM:617114 |
Nephrotic Syndrome, Type 11 |
|
High palate, Nephrotic syndrome, Cleft palate, Diffuse mesangial sclerosis, Arachnodactyly, Parti... |
OMIM:616730 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Short neck, Ulnar deviation ... |
OMIM:265000 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polyda... |
OMIM:119800 |
Craniofrontonasal Dysplasia |
|
High palate, Clinodactyly of the 5th finger, Abnormality of the dentition, Hypospadias, Down-slop... |
ORPHA:1520 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Irritability, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Vertebral segmentation defect, Chronic kidney disease, Hypoplastic left heart, Unilateral renal a... |
OMIM:617661 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Cleft p... |
OMIM:600987 |
Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral seg... |
ORPHA:2345 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Talipes equinovalgus, Scoliosis, Bilateral talipes equinovarus |
OMIM:619735 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, ... |
OMIM:311300 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Talipes equinovarus, Pulmonic stenosis, Femoral bowing, Cystic renal dyspl... |
OMIM:615415 |
Van Den Ende-Gupta Syndrome |
|
High palate, Cleft palate, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia,... |
OMIM:600920 |
3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Hemivertebrae, Sho... |
ORPHA:7 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Talipes equinovarus, Arachnodactyly, Short philtrum, Scoliosis, Camptodacty... |
OMIM:301039 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Cleft palate, Flared metaphysis, Platyspondyly, Micromelia, Elbo... |
OMIM:601561 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Cleft palate, Hypospa... |
ORPHA:2311 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Absent thu... |
OMIM:274000 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... |
ORPHA:1515 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Cenani-Lenz Syndrome |
|
Hypodontia, High, narrow palate, Finger syndactyly, Hypoplasia of the radius, Short philtrum, Cro... |
ORPHA:3258 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Butterfly vertebrae, Talipes equinovarus, Micropenis, Hypoplasia of the radius, Hypospadias, Shor... |
OMIM:607143 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Cleft palate, Talipes equinovalgus, Metacarpophalangeal joint hyperextensibility, Short neck, Pla... |
OMIM:245600 |
Slc35A2-Cdg |
|
Talipes equinovarus, Transient nephrotic syndrome, Abnormality of the hand, Short tibia, Aplasia/... |
ORPHA:356961 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Abnormality of the hand, Sh... |
OMIM:251230 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Narrow palate, Talipes equinovarus, Scoliosis |
OMIM:617481 |
Coloboma Of Macula And Skeletal Anomalies |
|
Cleft palate, Contracture of the distal interphalangeal joint of the 5th finger, Genu valgum, Hal... |
OMIM:216800 |
Giant Axonal Neuropathy |
|
Talipes equinovarus, Pes cavus, Scoliosis, Abnormal hand morphology, Genu valgum, Abnormality of ... |
ORPHA:643 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Wide mouth, Clinodactyly of the 5th finger, ... |
OMIM:619293 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, Ca... |
OMIM:601016 |
Greig Cephalopolysyndactyly Syndrome |
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Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of toe, 1-3 toe s... |
OMIM:175700 |
Aarskog-Scott Syndrome |
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Cleft palate, Short neck, Single transverse palmar crease, Cleft upper lip, Scoliosis, Curved lin... |
OMIM:305400 |
Joubert Syndrome 24 |
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Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Dystonia, Dopa-Responsive |
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Pes cavus, Talipes equinovarus, Scoliosis |
OMIM:128230 |
Frontometaphyseal Dysplasia 1 |
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High palate, Cleft palate, Increased density of long bone diaphyses, Delayed eruption of teeth, L... |
OMIM:305620 |
Cardiospondylocarpofacial Syndrome |
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High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Brachydactyly, Sy... |
ORPHA:3238 |
Meckel Syndrome, Type 10 |
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Ulnar deviation of the hand, Cleft palate, Micropenis, Postaxial polydactyly, Hypospadias, Anence... |
OMIM:614175 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Long hallux, Kyphoscoliosis, Talipes equinovarus, High, narrow palate, Cleft palate, Hyperextensi... |
OMIM:309583 |
White Forelock With Malformations |
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Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Deep philtrum, Abnorm... |
ORPHA:2475 |
Craniosynostosis, Philadelphia Type |
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Finger syndactyly |
ORPHA:1527 |
Short Rib-Polydactyly Syndrome |
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Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Shor... |
ORPHA:1505 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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High palate, Abnormal femoral neck/head morphology, Oligosacchariduria, Cleft palate, Slender fin... |
ORPHA:163649 |
Multiple Synostoses Syndrome 1 |
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Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... |
OMIM:186500 |
Moebius Syndrome |
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High palate, Absent hand, Tooth agenesis, Talipes equinovarus, Aplasia/Hypoplasia of the tongue, ... |
ORPHA:570 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metacarpal, Cleft ... |
OMIM:215150 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Hemivertebrae, Tapered finger, Ventricular septal defect, Umbilical hernia, Widely-spaced maxilla... |
OMIM:301040 |
Adams-Oliver Syndrome 6 |
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Syndactyly, Brachydactyly, Ventricular septal defect, Renal hypoplasia, Esophageal varix, Foot ol... |
OMIM:616589 |
Acrocallosal Syndrome |
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High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
Fatco Syndrome |
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Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Diaphanospondylodysostosis |
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Vertebral segmentation defect, Talipes equinovarus, Unossified sacrum, Cleft palate, Short neck, ... |
OMIM:608022 |
3P25.3 Microdeletion Syndrome |
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Cleft palate, Short philtrum, 2-3 finger syndactyly, Tapered finger, Pyloric stenosis, Ventricula... |
ORPHA:435638 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Double outlet right ventricle, Reduced blood folate concentration, Butterfly vertebrae, Talipes e... |
OMIM:301056 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hypodontia, Cleft palate,... |
ORPHA:2916 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Short humerus, Delayed os... |
OMIM:602471 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cleft upper lip, Cervical C2/C3 vertebral fusion, Cleft palate, Short neck, Scoliosis, Ventricula... |
OMIM:214300 |
Autosomal Recessive Robinow Syndrome |
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Wide mouth, Abnormality of the dentition, Short philtrum, Short neck, Ventricular septal defect, ... |
ORPHA:1507 |
Alkuraya-Kucinskas Syndrome |
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High palate, Overlapping toe, Talipes equinovarus, Micropenis, Adducted thumb, Cutaneous syndacty... |
OMIM:617822 |
Bruck Syndrome |
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Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Bowing of the long bones |
ORPHA:2771 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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High palate, Narrow mouth, Abnormal morphology of ulna, Cleft palate, Split foot, Abnormality of ... |
ORPHA:1307 |
20Q13.33 Microdeletion Syndrome |
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Abnormal cardiac ventricle morphology, Atrial septal defect, Talipes equinovarus, Thin vermilion ... |
ORPHA:261311 |
Orofaciodigital Syndrome Iv |
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High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Short tibia, Brachydac... |
OMIM:258860 |
Laurin-Sandrow Syndrome |
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Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Vacterl Association With Hydrocephalus |
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Anal atresia, Absent thumb, Radial club hand, Abnormality of the vertebral column, Renal hypoplas... |
OMIM:276950 |
Campomelic Dysplasia |
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High palate, Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Short 1st metacarp... |
OMIM:114290 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis, Ventricular septal defec... |
OMIM:601355 |
Noonan Syndrome 13 |
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High palate, Wide mouth, U-Shaped upper lip vermilion, Overlapping toe, Atrial septal defect, Bil... |
OMIM:619087 |