Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
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 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac sept... |
ORPHA:294975 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Crigler-Najjar Syndrome Type 1 |
|
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Flattened epiphysis, Cl... |
OMIM:222600 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Scoliosis, Narrow mouth, Overlap... |
OMIM:618436 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... |
ORPHA:916 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt... |
ORPHA:2935 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Cleft palate, High palate, Scoliosis, Clinod... |
ORPHA:376 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Malaria |
|
Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Abnor... |
ORPHA:3104 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:85174 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Arthrogryposis, Distal, Type 7 |
|
Metatarsus adductus, Deep philtrum, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Tal... |
OMIM:158300 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... |
OMIM:614335 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... |
OMIM:613330 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Holzgreve Syndrome |
|
Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic left heart |
OMIM:236110 |
Sprengel Deformity |
|
Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, Abnormality o... |
ORPHA:3181 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres... |
OMIM:618845 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con... |
OMIM:600175 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal... |
OMIM:619216 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening... |
OMIM:223200 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... |
OMIM:614815 |
Moderate Multiminicore Disease With Hand Involvement |
|
Recurrent patellar dislocation, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper lim... |
ORPHA:178145 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Pes cavus |
OMIM:617087 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... |
OMIM:225280 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Mitral valve prolapse, S... |
OMIM:211960 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Abnormality of amino acid metabolism |
ORPHA:214 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Whistling appearance, Narrow mouth, Elb... |
OMIM:277720 |
Hyperekplexia 4 |
|
Kyphoscoliosis, High palate, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adducted thumb |
OMIM:618011 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Cleft palate, ... |
OMIM:618469 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, H... |
ORPHA:93307 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Cuboid-shaped vertebral bodies, Hip dislocation, Patellar... |
ORPHA:1326 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Scoliosis, Distal lower li... |
OMIM:609311 |
Erythema Of Acral Regions |
|
Talipes equinovarus, Abnormality of the dentition |
OMIM:227000 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan... |
DECIPHER:46 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Pes planus, Hyperlordosis, Kyphosis, Achilles tendon contractu... |
OMIM:615290 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus |
OMIM:619501 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
Arthrogryposis, Distal, Type 2E |
|
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Narrow mouth |
OMIM:121070 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus |
ORPHA:85288 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplas... |
OMIM:264180 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Pericardial effusion, Short neck, Cleft ... |
OMIM:613885 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Rocker bottom foot, Cleft palate |
OMIM:616570 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Classic Homocystinuria |
|
Arachnodactyly, Dental crowding, Kyphosis, Esophageal varix, Genu valgum, High palate, Scoliosis,... |
ORPHA:394 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb |
OMIM:303350 |
Weaver Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Deep philtrum, Large... |
ORPHA:3447 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Abnormal sacrum morphology, Long penis, Coxa vara, Cleft p... |
ORPHA:1988 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Cl... |
OMIM:619980 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Cardiomyo... |
OMIM:300280 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Preaxi... |
ORPHA:65759 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis |
OMIM:300263 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve... |
ORPHA:2631 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K... |
ORPHA:496689 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Triangular mout... |
ORPHA:166024 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... |
OMIM:601680 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Nephrolith... |
ORPHA:1837 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp... |
OMIM:206920 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Rocker b... |
OMIM:619762 |
Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Aspartylglucosaminuria |
|
Pes planus, Aspartylglucosaminuria, Abnormal morphology of ulna, Abnormality of the dentition, Ca... |
ORPHA:93 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Talipes equinovarus, Scoliosis, Hyperlordosis |
OMIM:611067 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Knee flexion contracture, Talipes equ... |
OMIM:616531 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Talipes equinovarus, Upper limb amyotrophy |
ORPHA:99940 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... |
ORPHA:957 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preax... |
ORPHA:3098 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Rocker bottom foot, Single transverse palmar crease, Short neck, Kyphosis, Hip dysplasia, Areflex... |
OMIM:611890 |
Charlie M Syndrome |
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Finger syndactyly, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilion border, Shor... |
ORPHA:1406 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Moebius Syndrome |
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Syndactyly, Brachydactyly, Pes planus, Abnormality of the dentition, Short neck, Split hand, Micr... |
OMIM:157900 |
Cenani-Lenz Syndactyly Syndrome |
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Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidn... |
OMIM:212780 |
Lambert Syndrome |
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Wide mouth, Hypospadias, Talipes equinovarus |
OMIM:245550 |
Tyrosinemia Type 2 |
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Palmoplantar keratoderma, Abnormality of amino acid metabolism |
ORPHA:28378 |
2Q32Q33 Microdeletion Syndrome |
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Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Cleft palate, Oligodonti... |
ORPHA:251019 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
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Talipes equinovarus, Peroneal muscle atrophy |
OMIM:181400 |
Schwartz-Jampel Syndrome, Type 1 |
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Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Deep p... |
OMIM:255800 |
Mesomelic Limb Shortening And Bowing |
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Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Tetralogy of Fallot |
ORPHA:250994 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Tongue atrophy, Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus, Scoliosis |
OMIM:616155 |
Arthrogryposis, Distal, Type 4 |
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2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Kyphosis... |
OMIM:609128 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Split hand, Toe syndactyly, Split foot, Cleft palate |
OMIM:183700 |
Prieto Syndrome |
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Coxa valga, Abnormality of the dentition, Patellar subluxation, Talipes equinovarus, Radial devia... |
OMIM:309610 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Congenital Myopathy 10A, Severe Variant |
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Camptodactyly of finger, Cleft palate, High palate, Talipes equinovarus, Tongue fasciculations, S... |
OMIM:614399 |
Congenital Myopathy 24 |
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Scapular winging, Cardiomyopathy, High palate, Talipes equinovarus, Pes cavus |
OMIM:617336 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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Thin upper lip vermilion, Pes planus, Sacral dimple, Single transverse palmar crease, Short neck,... |
OMIM:613544 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Increased total bilirubin |
OMIM:174050 |
Arthrogryposis, Distal, Type 5D |
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Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flex... |
OMIM:615065 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Talipes equinovarus, Scoliosis |
OMIM:601382 |
Bruck Syndrome 1 |
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Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Dyggve-Melchior-Clausen Disease |
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Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Brachydactyly Type B |
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Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Microtriplication 11Q24.1 |
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Short neck, Metatarsus adductus, Small hand, Cleft palate, Irregularly spaced teeth, Genu valgum,... |
ORPHA:289522 |
Tibial Hemimelia |
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Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
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Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Oligosacchariduria, Macroglossia, Cam... |
OMIM:616354 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Abnormal cardiac septum morphology, Short middle phalanx of finger, Talipes equinova... |
OMIM:612626 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
Roussy-LĆ©vy Syndrome |
|
Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Scoliosis, Urina... |
ORPHA:3115 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... |
OMIM:184250 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Congenital knee dislocation, Bilateral talipes equinovarus, Scoliosis, Long philtrum, Hand clench... |
ORPHA:319332 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615683 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Short neck, Knee flexion contracture, High palate, Atrial septal defect, W... |
OMIM:121050 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Knee dislocation, Irregular vertebral endplates, High palate, Amelogenesis imperfecta, Hyperlordo... |
OMIM:618363 |
Maxillonasal Dysplasia |
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Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Vertebral clefting, Cleft pala... |
ORPHA:1248 |
Spondyloepiphyseal Dysplasia Congenita |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape... |
ORPHA:536516 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Orofacial cleft, Short palm, Clinod... |
ORPHA:915 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Hypoplasia of... |
ORPHA:88630 |
Pelvis-Shoulder Dysplasia |
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Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod... |
ORPHA:2839 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o... |
ORPHA:1617 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Single transverse palmar crease, Short neck, Glossoptosis, Vertebral segmenta... |
OMIM:611209 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus |
OMIM:604563 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Calf muscle hypertrophy, Macroglossia, Talipes equinovarus, Triangular to... |
OMIM:616827 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Finger clinodactyly, Type II transferrin isoform profile, Talipes equinovarus, Clinodactyly of th... |
OMIM:611182 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:617201 |
Mehmo Syndrome |
|
Hypoplasia of penis, Tapered finger, Downturned corners of mouth, Thick vermilion border, Talipes... |
ORPHA:85282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Sma... |
OMIM:239800 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... |
ORPHA:1825 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Arachnodactyly, Narrow mouth, Mitral valve prolapse, High palate, Bilateral tali... |
OMIM:615539 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Movement abnormality of the tongue, Abnormal finger morphology, Bilateral talipes equinovarus |
ORPHA:2560 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... |
OMIM:300337 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Hyperlordosis, Long fingers, ... |
ORPHA:169186 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Carious teeth, Narrow mouth, Short neck, ... |
OMIM:272430 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti... |
ORPHA:56304 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Limited interphalangeal movement, Hand muscle weakness, Limited w... |
ORPHA:99948 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Hip dyspla... |
OMIM:617219 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Thick lower lip vermilio... |
OMIM:619451 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Irregula... |
OMIM:616716 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... |
ORPHA:261272 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
Thrombocytopenia-Absent Radius Syndrome |
|
Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused cervical vertebr... |
ORPHA:3320 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis, Cleft palate |
OMIM:612913 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pala... |
ORPHA:1106 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Genu recurvatum, Wide mouth, High palate, Short philtrum, Talipes equinovarus, Acetab... |
OMIM:614066 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... |
ORPHA:90650 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Vesicoureteral reflux, Cleft... |
OMIM:244600 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Talipes equinovarus |
OMIM:130010 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Monosomy 5P |
|
Finger syndactyly, Short neck, Small hand, High palate, Scoliosis |
ORPHA:281 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Narrow mouth, Ulnar deviation of finger, T... |
ORPHA:2053 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... |
ORPHA:2319 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly... |
OMIM:236500 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal defect, Intestinal m... |
ORPHA:2970 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Overlapping toe,... |
OMIM:618142 |
Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:613162 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Bilateral talipes equinovarus, Talipes equinovarus, Scoliosis, Flexion ... |
OMIM:618484 |
Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, Hypospadias, Short neck, High, narrow palate, Pyloric stenosis, Kyp... |
OMIM:248700 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Cousin Syndrome |
|
Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ... |
OMIM:260660 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Talip... |
OMIM:601389 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, High palate... |
OMIM:201170 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Thoracolumbar scoliosis, Metatarsus adductus, High,... |
ORPHA:436003 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
Congenital Myopathy 20 |
|
Scapular winging, Ulnar deviation of the hand, Toe joint contracture, Hip dislocation, High palat... |
OMIM:620310 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, High palate, Talipes equinovarus, Short palm, Clinodactyly |
ORPHA:85279 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se... |
ORPHA:505237 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular ver... |
OMIM:143095 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Hammertoe, Talipes equinovarus, Scoliosis, Ulnar claw, Pes cavus |
OMIM:608340 |
Perrault Syndrome 1 |
|
Pes cavus, High palate, Talipes equinovarus, Scoliosis |
OMIM:233400 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... |
OMIM:620269 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Chondroitin s... |
OMIM:253010 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Decreased circulating vitamin E concentration, Esophageal varix, Abn... |
ORPHA:309854 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,... |
OMIM:272460 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodacty... |
OMIM:161200 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Hyperlordosis, Kyphosis, High palate, Talipes equinovarus, Scoliosis, Pes cavus |
OMIM:255200 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft pa... |
ORPHA:971 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Bilateral talipes equinovarus |
OMIM:616486 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Abnorm... |
ORPHA:2712 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes cal... |
ORPHA:2614 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Long fingers, High palate, Talipes equinovarus, Clinodactyly, Joint contracture ... |
OMIM:601110 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Short phil... |
ORPHA:3306 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Cleft pal... |
ORPHA:2635 |
Kbg Syndrome |
|
Thin upper lip vermilion, Vertebral fusion, Macrodontia, Single transverse palmar crease, Short n... |
ORPHA:2332 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Coxa valga, Finger clinodactyly, Patellar subluxation, Bilateral tal... |
ORPHA:2958 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Abnormally ossified... |
ORPHA:1512 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Tapered finger, Conical tooth, Long fingers, High palate, Talipes equinovarus, Scoliosis, Promine... |
OMIM:617773 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Hyperlo... |
OMIM:181405 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... |
ORPHA:2251 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Syndactyly... |
OMIM:614091 |
Nescav Syndrome |
|
Talipes equinovarus |
OMIM:614255 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, ... |
OMIM:217100 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Clef... |
OMIM:612530 |
Charcot-Marie-Tooth Disease Type 4G |
|
Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl... |
ORPHA:99953 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or m... |
ORPHA:66637 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Widely-spaced maxillary central incisors, Oligodontia, Partial duplicat... |
ORPHA:363417 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia |
OMIM:613576 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hemivertebrae, Hypop... |
OMIM:173800 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninuria, Talipes equinovarus |
ORPHA:212 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of... |
OMIM:616789 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Overlapping toe, Down-sloping... |
OMIM:617452 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephalocel... |
OMIM:108720 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Short neck, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th ... |
ORPHA:251028 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Diffuse mesangial sclerosis, Ventricular septal defect, Single transverse palmar c... |
OMIM:618348 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Hemivertebrae, Double outlet right ventricle,... |
OMIM:220210 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... |
OMIM:618291 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert... |
OMIM:619736 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocat... |
OMIM:615777 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capi... |
OMIM:147891 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, Camptodactyly,... |
OMIM:314580 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Thoracic scoliosis, Lumbar scoliosis, Talipes equinovarus |
OMIM:616171 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Talipes calcaneovalgus, Cleft palate, Cleft upper lip |
OMIM:600251 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, An... |
ORPHA:1865 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ectopic kidney, Abnormal iliac wing morphology, Abnorm... |
ORPHA:3027 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Talipes equinovarus, Long philtrum |
OMIM:619972 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... |
OMIM:600987 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary incontinence, Short ne... |
OMIM:301041 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Aplasia of the pectoralis major muscle, ... |
ORPHA:1358 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... |
ORPHA:710 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... |
OMIM:150250 |
Central Core Disease |
|
Pes planus, Congenital hip dislocation, Kyphoscoliosis, Mitral valve prolapse, Talipes equinovaru... |
ORPHA:597 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Knee dislocation, High palate, Short tibia, Vertebral hypoplasia... |
ORPHA:56305 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Prote... |
OMIM:235510 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormal pelvis bone ... |
ORPHA:166119 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Narrow... |
OMIM:617022 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Fl... |
OMIM:602471 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Carious teeth, Talon cusp, Dental malocclusion,... |
OMIM:613684 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Acrofacial Dysostosis, RodrĆguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Narrow palm, Small hand, Abnormal heart morphology, Scolios... |
ORPHA:1445 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Deep philtrum, Oligosacchariduri... |
ORPHA:397709 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Dextrocardia, Spina bifida, Single transverse palmar crease, Thoracolumbar scol... |
ORPHA:2437 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha... |
ORPHA:101097 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Single transverse pa... |
OMIM:614701 |
Arthrogryposis, Distal, Type 2A |
|
Dental crowding, Short neck, Knee flexion contracture, High palate, Spina bifida occulta, Wrist f... |
OMIM:193700 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp... |
ORPHA:1897 |
Pontocerebellar Hypoplasia, Type 12 |
|
Talipes equinovarus, Overlapping fingers, Rocker bottom foot |
OMIM:618266 |
Split-Hand/Foot Malformation 3 |
|
Narrow mouth, Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly |
OMIM:246560 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Osteopathia striata, High palate, Short philtrum, Finger joint hypermobility,... |
OMIM:212720 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... |
OMIM:619148 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Short n... |
ORPHA:2994 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosis, Absent phalangeal cr... |
OMIM:108145 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture of finger, Elbow flexion contracture, Camptodactyly, Bilateral talipes equino... |
OMIM:617194 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Pursed lips, Short neck, Metatarsus adductus, Calcaneovalgus deformity, Elbow fl... |
OMIM:616266 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Irritability, Hyperbilirubinemia |
OMIM:619685 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Pes planus, Overriding aorta, Bicuspid aortic valve, Ventricular septal... |
ORPHA:477817 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi... |
OMIM:271640 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan... |
OMIM:616730 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Cleft palate, Ab... |
ORPHA:2345 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... |
OMIM:601356 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, End... |
ORPHA:99776 |
Larsen-Like Syndrome |
|
Kyphoscoliosis, Dental malocclusion, Cleft palate, Radial deviation of the 4th finger, Talipes eq... |
OMIM:608545 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca... |
ORPHA:59135 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Clinodactyly, Hydronephrosis, Abnormal palate morphology |
ORPHA:251046 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Short philtrum, Talipes equinovarus, Scoliosis, Campto... |
OMIM:301039 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Talipes equinovalgus, Bilateral talipes equinovarus, Scoliosis |
OMIM:619735 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Short neck... |
OMIM:615583 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Abnormality of amino acid metabolism |
ORPHA:220295 |
Slc35A2-Cdg |
|
Abnormal glycosylation, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ... |
ORPHA:356961 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
CantĆŗ Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Talipes, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypo... |
OMIM:617661 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... |
ORPHA:94066 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Downturned corners of mouth, Short philtrum, Atrial sept... |
OMIM:601808 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus |
OMIM:613710 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Widely spaced teeth, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr... |
OMIM:253220 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Thin upper lip vermilion, Pes planus, Arachnodactyly, Sandal gap, Hip dysplasia, High palate, Tal... |
OMIM:617146 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Urinary incontinence, Spinal ... |
OMIM:617114 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... |
OMIM:300963 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis, Pes cavus |
OMIM:601596 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Talipes calcaneovalgus, Knee flexion contracture, Downturned corners of mouth, High p... |
OMIM:265000 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes equinovarus, Long ... |
OMIM:617333 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615035 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Ovoid vertebral bodies, Coxa valga, Short neck, Abnormality of the elbow, Cleft palate, Flat acet... |
ORPHA:163649 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Knee dislocation, Shoulder dislocation, Atrial s... |
OMIM:245600 |
3C Syndrome |
|
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Abnormal tr... |
ORPHA:7 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger,... |
ORPHA:2311 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Short foot, Talipes equinovarus, Long philtrum, Umbilical hernia |
ORPHA:93298 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In... |
OMIM:305620 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Short palm,... |
OMIM:305400 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f... |
OMIM:616145 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Cleft palate... |
OMIM:258860 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t... |
ORPHA:1515 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Flared metaphys... |
OMIM:615349 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Nar... |
OMIM:600920 |
Developmental And Epileptic Encephalopathy 91 |
|
Talipes equinovarus, Thick vermilion border, Short philtrum, Single transverse palmar crease |
OMIM:617711 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Dihydropyrimidinase Deficiency |
|
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Cervical kyphosis, Talipes equinovarus, Kyphoscoliosis |
OMIM:617662 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Abnormality of the v... |
OMIM:276950 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Scoliosis, Talipes equinovarus, Narrow palate |
OMIM:617481 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Femoral bowing, Abnormal shoulder morphology, ... |
OMIM:274000 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Mitral valve prolapse,... |
ORPHA:3238 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Pes planus, Exaggerated cupid's bow, Hypospadias, Tapered finger, Denta... |
OMIM:619293 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Hypospadias, Coxa valga, Talipes equinovalgus, Pos... |
OMIM:301056 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Short neck, Lum... |
OMIM:608022 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners ... |
ORPHA:1507 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong... |
ORPHA:570 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Fused cervical vertebrae, S... |
OMIM:214300 |
Giant Axonal Neuropathy |
|
Abnormal hand morphology, Genu valgum, Talipes equinovarus, Scoliosis, Pes cavus, Abnormality of ... |
ORPHA:643 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Short neck, Calcaneovalgus deformity, Adducted thumb, Camptodactyly,... |
ORPHA:562528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Long p... |
OMIM:309583 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Spina bif... |
ORPHA:2475 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu... |
ORPHA:435638 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... |
OMIM:616589 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:2771 |
Dystonia, Dopa-Responsive |
|
Pes cavus, Talipes equinovarus, Scoliosis |
OMIM:128230 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Sacral dimple, Hypospadias, Tapered finger, Abnormal cardiac ventricle... |
ORPHA:261311 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hemivertebrae, Widely-spaced maxillary central incisors, Micropenis, Hypospadias, Tapered finger,... |
OMIM:301040 |
Noonan Syndrome 13 |
|
Atrial septal defect, Pes planus, Overlapping toe, Tapered finger, Metatarsus adductus, Lower lim... |
OMIM:619087 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou... |
OMIM:225060 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po... |
ORPHA:2916 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Toe syndactyly, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Oligod... |
OMIM:619234 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Narrow palate, Vertebral segmentation ... |
ORPHA:1323 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Ventr... |
ORPHA:2473 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, T... |
OMIM:612651 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiph... |
OMIM:114290 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Fem... |
OMIM:620076 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,... |
OMIM:181180 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Glossop... |
ORPHA:1427 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Urinary incontinence, Scoliosis, Distal lower limb muscle weakness |
OMIM:615284 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Pes planus, Hypoplasia of penis, Abnormal dental enamel morphology, Do... |
ORPHA:96263 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Abnormality of the cervi... |
OMIM:154400 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Vesicoureteral reflux, Short foot, Hydronephrosis, Abnormal... |
ORPHA:250989 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Vesicouret... |
OMIM:607323 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Vertebral segm... |
ORPHA:251014 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Micropenis, Dysplastic sacrum, Hu... |
OMIM:134780 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Arachnodactyly, Long palm, Tapered finger, Camptodact... |
ORPHA:2215 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, High palate, Short palm,... |
OMIM:249420 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short neck, High, narrow palate, Supernumerary tooth, Small hand, Abnormal for... |
ORPHA:1787 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Arachnodactyly, Short neck... |
ORPHA:371364 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Short neck, Abnormal foot morphol... |
ORPHA:369891 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Kyphoscoliosis, Abnormality of the dentition, Split hand, Talipes equinovarus, P... |
OMIM:604168 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Hypospadias, Sacral dim... |
OMIM:601390 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Hypoplasia ... |
OMIM:618150 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses... |
OMIM:309350 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Wide mouth, High palate, Talipes equinovarus, Short philtrum, Adducted thumb |
OMIM:612936 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Hypospadias, Postaxial polyd... |
OMIM:614175 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni... |
ORPHA:93929 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con... |
ORPHA:1154 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Parachute mi... |
OMIM:618316 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicou... |
OMIM:616894 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte... |
OMIM:601355 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Hypopl... |
OMIM:607143 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial se... |
OMIM:250220 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Impairment of fructose metabolism |
ORPHA:2056 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, High palate, Bilateral coxa valga, Atrial septal defect, Patent foram... |
OMIM:615582 |
Distal Deletion 6P |
|
Abnormality of the dentition, Orofacial cleft, Downturned corners of mouth, Short foot, Vertebral... |
ORPHA:96125 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Widely spaced teeth, Thoracic kyphosis, Clinodactyly, Pes cavus |
OMIM:619092 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Atrial septal ... |
ORPHA:536471 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Wide mouth, Thick vermilion border, High palate, Short philtrum, Talipes equinovarus |
OMIM:614067 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Talipes equinovarus, Short-segment aganglionic megacolon |
OMIM:619465 |
Liver Failure, Infantile, Transient |
|
Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Thin upper lip vermilion, Atrial septal defect, Dextrocardia, Homocystinu... |
OMIM:277380 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... |
OMIM:314390 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Pes planus, Hypoplasia of penis, Abnormal dental enamel morphology, Do... |
ORPHA:96264 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodac... |
ORPHA:1692 |
Bruck Syndrome 2 |
|
Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Platyspondyly, Talipes equin... |
OMIM:609220 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Pericardial effusion, Abnormal foot morphology, Cutaneous syndactyly, Micropenis... |
OMIM:617822 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Loeys-Dietz Syndrome 4 |
|
Pes planus, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Pr... |
OMIM:614816 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S... |
ORPHA:140 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Pierre-Robin sequence, Flared met... |
OMIM:215150 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Hyperlordosis, Calf muscle hypertrophy, Scapular muscle atrophy, Talipe... |
OMIM:611588 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... |
ORPHA:2886 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Gingival overgrowth, Mesomelia, Umbi... |
OMIM:616331 |
Cog1-Cdg |
|
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valg... |
ORPHA:263508 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... |
OMIM:617137 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Perimembranous ventricular septal defect, Protein-losing enteropathy, Talipes equinov... |
OMIM:608104 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Atrioventricular canal defect, Finger syndactyly, ... |
ORPHA:2751 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Glossoptosis, Abnormally ossified vertebrae, Lumba... |
ORPHA:94068 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... |
OMIM:174300 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Talipes, Hypospadias, ... |
ORPHA:1335 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertropy, Thoracolumbar kyphosco... |
OMIM:252500 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, High palate, Talipes equi... |
OMIM:254090 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Transposition ... |
OMIM:231060 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, High palate, Talipes equinovarus, Absent Achilles reflex |
OMIM:620011 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormality of the dentition, Abnor... |
ORPHA:3224 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Scoliosis |
OMIM:619091 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, High palate, Hypoplastic iliac wing, Abnormal vertebral mor... |
ORPHA:93315 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft pal... |
ORPHA:85166 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Vertebral segment... |
ORPHA:261318 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Ulnar deviation of the ... |
OMIM:615546 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Short neck, Anteriorly placed anus, Prominent f... |
OMIM:305450 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Ventricul... |
ORPHA:2008 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Lower limb asymmet... |
ORPHA:35173 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle... |
OMIM:308050 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Cubitus valgus, Hemivertebrae, Mitral valve prolapse, Hig... |
OMIM:104350 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Xerostomia, Congenital posterior urethral valve, Talipes... |
OMIM:100100 |
Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth |
OMIM:617681 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Anterior wedging of ... |
OMIM:164745 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, High palate, Talipes equinovarus, Long philtrum |
OMIM:614872 |
Robinow Syndrome |
|
Dental crowding, Hemivertebrae, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, ... |
ORPHA:97360 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Atrial septal ... |
OMIM:300373 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Syndactyly, Pericardial lymphangiectasia, Narrow mouth, Intestinal lymphangi... |
OMIM:616006 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,... |
OMIM:141400 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease,... |
OMIM:300707 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, Cleft palate, Forea... |
OMIM:251230 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Accessory carpal bones, Cleft palate, Vertebral segmentation de... |
ORPHA:503 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Bilateral talipes equinovarus, Tongue fasciculations, Scoliosis |
ORPHA:544469 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Pes planus, Areflexia of lower limbs, Talipes equinovarus, Scoliosis, Hyporeflexia of lower limbs... |
OMIM:256850 |
Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hy... |
ORPHA:887 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Abnormal foot morphology, Talipes equinovarus, Camptodactyly |
OMIM:618198 |
Temtamy Syndrome |
|
Pes planus, Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equinov... |
OMIM:218340 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Cleft palate, Thick vermilion border, High palate, Short philtrum, Tali... |
OMIM:619493 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Finger syndactyly, Hyp... |
ORPHA:959 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Metaphyseal widening, Anterior atlanto-occipital dislocation, High palate, Microdontia, Arachnoda... |
ORPHA:536467 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Short neck, Short toe, High palate, Talipes equinovarus |
ORPHA:98791 |
Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p... |
ORPHA:373 |
Rahman Syndrome |
|
Talipes equinovarus, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Hypospadi... |
ORPHA:254346 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Short palm |
ORPHA:79094 |
Monosomy 18Q |
|
Pes planus, Absence of the pulmonary valve, Abnormal palmar dermatoglyphics, Arachnodactyly, Tape... |
ORPHA:1600 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Tal... |
ORPHA:1908 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Cleft palate, M... |
OMIM:612561 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Syndactyly, Hypospadias, Renal hypoplasia, Abnormal heart mor... |
ORPHA:314679 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... |
OMIM:156550 |
Chromosome Xq13 Duplication Syndrome |
|
Thin upper lip vermilion, Pes planus, Metatarsus adductus, Hip dysplasia, Talipes equinovarus, Fi... |
OMIM:301069 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Pes planus, Bowing of the long bones, Arachnodactyly, Single transverse palmar crease, ... |
OMIM:130070 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Talipes equinovarus |
OMIM:260300 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Hand polydactyly, High palate, Broad thumb |
OMIM:239710 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... |
OMIM:119580 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... |
ORPHA:464738 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Short neck, Non-midline cleft lip, Myelomeningocele... |
ORPHA:1752 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short neck, Non-midl... |
ORPHA:3376 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Abnormall... |
ORPHA:800 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Abnormal foot morphology, Abnormality of the ureter, Sho... |
OMIM:180860 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Abnormal foot morphology, Gingival overgrowth, Narrow palate, 2-3 toe syndactyly, Thick vermilion... |
OMIM:618186 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, Tapered finger, Hip... |
OMIM:617807 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Abnormality of the urethra, Split hand, Cleft palate, Brachydactyly |
ORPHA:2145 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Pes planus, Hypospadias, Single transverse palmar crease, Short nec... |
OMIM:123450 |
Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Hyperbilirubinemia |
OMIM:619075 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar... |
OMIM:224410 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Wide mouth, Macroglossia, High pa... |
OMIM:614501 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Depression |
ORPHA:69665 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Rocker bottom foot, Abnormality of the dentition, Short neck, Achilles tendon contra... |
ORPHA:363528 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M... |
OMIM:263750 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ... |
OMIM:612284 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Protruding tongue,... |
OMIM:618580 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Flat glenoid fossa, Hemivertebrae, Cutaneous finger syndactyly, High palate, Sho... |
OMIM:224690 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Pontocerebellar Hypoplasia, Type 8 |
|
Tented upper lip vermilion, Ventricular septal defect, Talipes equinovarus, Scoliosis, Talipes va... |
OMIM:614961 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening ... |
OMIM:146510 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... |
ORPHA:90652 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Robin ... |
OMIM:108300 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Impairment of galactose metabolism |
ORPHA:79238 |
Hepatoportal Sclerosis |
|
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Finger syndactyly, Brachydactyly, Hypospadias, Abnormality of the dentition, Car... |
ORPHA:1786 |
Kleefstra Syndrome 1 |
|
Natal tooth, Hypospadias, Single transverse palmar crease, Protruding tongue, Persistence of prim... |
OMIM:610253 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Aortic valve stenosis, Talipes equino... |
OMIM:615415 |
Autosomal Recessive Spastic Paraplegia Type 59 |
|
Talipes equinovarus |
ORPHA:401795 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Arachnodactyly, Conical tooth, Pierre-Robin sequence, Gi... |
OMIM:612313 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Bohring-Opitz Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Dislocated radial head, Syndactyly, Cleft upper lip,... |
OMIM:605039 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly, Smooth philtrum |
OMIM:602501 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Talipes, Aplasia/Hypoplasia of the distal ph... |
ORPHA:1234 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... |
ORPHA:2369 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... |
ORPHA:2010 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Abn... |
ORPHA:1770 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Brachydactyly, Diastema, Furrowed tongue, Short foot, Talipes calcaneov... |
OMIM:300534 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Cleft palate, Abnormal heart morphology, Am... |
OMIM:214110 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:261236 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... |
ORPHA:1104 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Finger clin... |
ORPHA:1596 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Downturned corners of mouth, Shor... |
ORPHA:280 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Pierre-Robin sequence, Cleft pa... |
OMIM:217980 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Non-midline cleft lip, Postaxial hand polyda... |
ORPHA:2075 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Velopharyngeal insufficienc... |
OMIM:617746 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Broad hallux, Tapered finger, Short neck, Short thumb, Wide mouth, Hip dysplasia, Hig... |
OMIM:620224 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Knee flexion contracture, Epiphyseal stippling, Talipes equinovarus, Scoliosis, ... |
OMIM:118650 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder |
ORPHA:73272 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Long foot, Abnormal thumb morphology, Me... |
ORPHA:500095 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage... |
OMIM:242900 |
Cohen Syndrome |
|
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda... |
ORPHA:193 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
Pontocerebellar Hypoplasia, Type 1A |
|
Talipes equinovarus, Abnormal foot morphology, Tongue fasciculations |
OMIM:607596 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula, Lumbar hemiverteb... |
OMIM:619859 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Distal lower limb muscle weakness, Talipes equinovarus |
ORPHA:466794 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patel... |
ORPHA:85201 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... |
OMIM:609638 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodactyl... |
ORPHA:397590 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t... |
ORPHA:573278 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Bicuspid aortic valve, Short finger |
OMIM:300049 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Hip dislocation, Talipes equinovarus, Scoliosis, Narrow mouth, Umbili... |
OMIM:219150 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, High palate, Talipes equinovarus, Scoliosis |
OMIM:619752 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Bilateral talipes equinovarus |
OMIM:616521 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's b... |
ORPHA:261494 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ... |
OMIM:302960 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression |
ORPHA:293939 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Femoral bowing, Anteriorly placed anus, Vesicoureteral reflux, Abnormality o... |
ORPHA:95699 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney |
OMIM:181510 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft... |
OMIM:277170 |
Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodactyly of the 5th ... |
ORPHA:1452 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Single transverse palmar crease, Cleft upper l... |
OMIM:244300 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dental crowding, Long fingers, Thin vermilion border, Short philtrum, Bilateral talipes equinovar... |
OMIM:618343 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Hypospadias, Lower limb asymmetry,... |
ORPHA:96182 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... |
OMIM:612562 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Pyloric stenosis, Enamel hypoplasia, Syndactyly |
OMIM:226700 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding... |
OMIM:101600 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Arthrogryposis Multiplex Congenita 5 |
|
Rocker bottom foot, Kyphoscoliosis, Short neck, Hip dislocation, Elbow flexion contracture, Hamme... |
OMIM:618947 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Pes planus, Arachnodactyly, Genu recurvatum, Metatarsus adductus, Metaphyseal widening, Dental ma... |
OMIM:182212 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Pes planus, Vertebral fusion, Overlapping toe, Sacral di... |
OMIM:213980 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ... |
OMIM:614120 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Talipes equinovarus |
ORPHA:401815 |
Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Mac... |
OMIM:619775 |
Prader-Willi Syndrome Due To Translocation |
|
Short neck, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Patent fora... |
ORPHA:177907 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Short ... |
ORPHA:233 |
Oculodentodigital Dysplasia |
|
Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Finger syndactyly, Abnorma... |
ORPHA:2710 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Talipes equinovarus, Anal atresia |
OMIM:617695 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Ab... |
OMIM:612394 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation |
OMIM:601163 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the ... |
OMIM:300166 |
Trisomy 10P |
|
Thumb contracture, Abnormality of the hand, Abnormal foot morphology, Short toe, Hemivertebrae, O... |
ORPHA:171929 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Finger syndactyly, Dental crowding, Single transverse p... |
ORPHA:435938 |
Native American Myopathy |
|
Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mouth, High palat... |
ORPHA:168572 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Large placen... |
ORPHA:1708 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Short neck, High, narrow palate, Abnormal tibia morphology, Foot... |
ORPHA:2879 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Meningocele, Patellar hypoplasia, Wide mouth, Talipes equinovaru... |
ORPHA:1827 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Abnormal dental morphology, Camptodact... |
ORPHA:568 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Ventricular septal defect, Tarsal synostosis, Short neck, Elbo... |
OMIM:178110 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental malocclusion, Elbow flexio... |
ORPHA:2920 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Lissencephaly 8 |
|
Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate |
ORPHA:250999 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Kyphosis, Abnormality of the elbow, Hip dis... |
ORPHA:1005 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Thin upper lip vermilion, Anal stenosis, Pes planus, 2-3 toe cutaneous syndactyly, 3-4 finger cut... |
OMIM:620029 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Proximal placement of thumb, Narrow mouth, Glandular hypospadias, Narrow palate, Dee... |
OMIM:604314 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Hamamy Syndrome |
|
Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Tapered finger, Complete ... |
OMIM:611174 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,... |
ORPHA:93932 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Short neck, Long fingers, High palate, Talipes equinovarus, Long p... |
ORPHA:3309 |
Kbg Syndrome |
|
Short palm, Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transve... |
OMIM:148050 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, Genu valgum,... |
OMIM:301066 |
Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Spinal rigidity, Pierre-Robin sequence, Cleft palate, Glossoptosis, Abnormal card... |
OMIM:254940 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... |
OMIM:603553 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Atrial septa... |
OMIM:312870 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, High, narrow palate, Abnormal 5t... |
ORPHA:1439 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Talipes equinovarus |
OMIM:616719 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Talipes cavus equinovarus |
ORPHA:139485 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe, Pes cavus |
OMIM:601455 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum |
ORPHA:1252 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... |
OMIM:614976 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, ... |
OMIM:607361 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Alg8-Cdg |
|
Macroglossia, Talipes equinovarus, Camptodactyly, Type I transferrin isoform profile, Brachydactyly |
ORPHA:79325 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger,... |
OMIM:280000 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Pes cavus, Talipes equinovarus |
ORPHA:101150 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi... |
OMIM:616038 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop... |
ORPHA:158687 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Abnormal dental... |
ORPHA:2092 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Non-midline cleft lip, Fibr... |
ORPHA:1300 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Ventricular septal defect, Overlapping toe, Short foot, Hip dysplasia, Hip dislo... |
OMIM:618268 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Kyphosis, Cleft palate, Pulmonic stenosis, Camptodactyly, C... |
OMIM:619123 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, High, narrow palate, Abnormality of the gingiva, Epi... |
ORPHA:3107 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus |
OMIM:618174 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Long foot, Talipes equinovarus |
OMIM:617788 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... |
ORPHA:246 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficie... |
OMIM:129400 |
20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Pes planus, Dental crowding, Overlapping toe, Kyphoscoliosis, Pyloric stenosis, Hand clenching, M... |
OMIM:617402 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Cleft lip, Kyphosis, Dysplas... |
ORPHA:1724 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, H... |
OMIM:180849 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Short neck, Hypoplastic iliac wing, Micropenis, Short phalanx of finger, Patent f... |
OMIM:263650 |
X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Taper... |
ORPHA:96201 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Knee flexion contracture |
OMIM:615490 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
Lathosterolosis |
|
Toe syndactyly, Lumbosacral meningocele, Myelomeningocele, Postaxial hand polydactyly, Gingival o... |
OMIM:607330 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis |
ORPHA:1338 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Right ventricular dilatation, Abnormal left ventricular outflow trac... |
ORPHA:79328 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes equinovarus, Tri... |
ORPHA:1101 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Th... |
OMIM:614800 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... |
OMIM:617063 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b... |
OMIM:214100 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hyperlordosis, ... |
ORPHA:794 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru... |
OMIM:617865 |
Alg12-Cdg |
|
Thin upper lip vermilion, Sandal gap, Intestinal malrotation, Ulnar deviation of the wrist, Proxi... |
ORPHA:79324 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M... |
OMIM:611134 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli... |
OMIM:600383 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Clef... |
OMIM:603671 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Adducted thumb |
OMIM:616603 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet... |
OMIM:164200 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Bilateral talipes equinovarus, Short neck, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Pes planus, Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Arachnodactyly, Abno... |
ORPHA:536545 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Short neck, Cleft palate, Downturned corne... |
OMIM:614230 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Short neck,... |
ORPHA:178303 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Laryngeal Abductor Paralysis |
|
Talipes equinovarus |
OMIM:150260 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Hypospa... |
ORPHA:217346 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Short neck, Talipes calcaneovalgus, Widely-spaced maxillary central i... |
OMIM:309580 |
Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Coxa vara, High palate, Microdontia, Scapular winging, Deep plantar c... |
OMIM:278250 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Talipes equinovarus |
OMIM:618917 |
Myhre Syndrome |
|
Short palm, Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Submucous cleft ha... |
ORPHA:2588 |
Tetrasomy 9P |
|
Dental crowding, Short neck, Downturned corners of mouth, High palate, Short philtrum, Clinodacty... |
ORPHA:3310 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Dental crowding, Ankle flexion contracture, Hyperlor... |
ORPHA:2020 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Esophageal varix, Pulmonic stenosis, Right ventricular hypertrophy, Um... |
OMIM:616028 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Talipes, Ab... |
ORPHA:974 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Triangular mouth |
OMIM:617988 |
Graft Versus Host Disease |
|
Irritability, Hyperbilirubinemia |
ORPHA:39812 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Orofacial cleft, Abnormal form of the vertebral bodies, Downturn... |
OMIM:194190 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Thin vermilion border, Short ph... |
ORPHA:3255 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Synaptic Congenital Myasthenic Syndromes |
|
Abnormality of the knee, Scapular winging, Limited wrist extension, Hand muscle weakness, High pa... |
ORPHA:98915 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma... |
ORPHA:284160 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip,... |
OMIM:100300 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Neurogenic bladder, Absence of the sacrum, Hemisacrum, Myelomeningocele,... |
OMIM:600145 |
Pili Torti-Onychodysplasia Syndrome |
|
Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly |
ORPHA:2890 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
49,Xxxyy Syndrome |
|
Finger clinodactyly, Micropenis, Bilateral talipes equinovarus, Abnormal plantar dermatoglyphics |
ORPHA:261534 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Microdon... |
OMIM:601005 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Abnormal foot morphology, Abnorm... |
ORPHA:2990 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Abs... |
ORPHA:63259 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Kyphoscoliosis,... |
ORPHA:2962 |
Galactose Mutarotase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:570422 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Single transverse palmar crease, Short neck, Tented philtrum, Patellar aplasia, Patellar hypoplas... |
ORPHA:495818 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... |
ORPHA:2308 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental ... |
OMIM:227330 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Talipes calcaneovalgus, Abnormal fo... |
ORPHA:818 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Cardiomegaly, Eruption failure, Expanded metacarpals with wi... |
OMIM:182250 |
Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... |
OMIM:615789 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Developmental And Epileptic Encephalopathy 89 |
|
Thin upper lip vermilion, Cleft palate, Talipes equinovarus, Scoliosis, Long philtrum, Limb under... |
OMIM:619124 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Single transverse palmar crease, Enuresis, Renal Fanconi syndrome... |
OMIM:619743 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thum... |
OMIM:192350 |
Autoimmune Hepatitis |
|
Depression, Increased total bilirubin |
ORPHA:2137 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... |
ORPHA:87 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Abnormality of the dentition, A... |
OMIM:151050 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia |
OMIM:613812 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypospadias, Talipes equinovarus, Narrow mouth |
OMIM:177980 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnormality of the dentit... |
ORPHA:847 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... |
ORPHA:783 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, ... |
ORPHA:3404 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Pes planus, Thoracic scoliosis, Thoracic kyphoscoliosis, High, narrow palate, Hip dislocation, El... |
ORPHA:1900 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Radial club hand, Esophageal stricture, Talipes equinovarus, Mic... |
OMIM:617053 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Sh... |
OMIM:619879 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, High,... |
ORPHA:3472 |
Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalange... |
ORPHA:2658 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Postaxial hand... |
OMIM:609192 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, S... |
OMIM:614083 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... |
OMIM:263520 |
Oeis Complex |
|
Absence of the sacrum, Congenital hip dislocation, Hydroureter, Intestinal malrotation, Epispadia... |
OMIM:258040 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Wide mouth, Nephrot... |
OMIM:251300 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Renovascular hypertension, Finger clinodactyly, Renal artery s... |
OMIM:602531 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating ... |
ORPHA:90674 |
Microhydranencephaly |
|
Hydranencephaly, Talipes equinovarus |
OMIM:605013 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... |
OMIM:615503 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Congenital hip dislocation, Kyphoscoliosis, Short thumb, Supernumerary... |
OMIM:268400 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Osteopetrosis, Autosomal Recessive 5 |
|
Irritability, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Urinary incontinence, Talipes equinovarus |
OMIM:604320 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypospadias, Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Mitral valve prolapse, High palate, Talipes equinovarus, Atri... |
ORPHA:251066 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Ureteral stenosis, Increased density of long bones, Single transverse pa... |
OMIM:269150 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Halperin-Birk Syndrome |
|
Hip dislocation, Perimembranous ventricular septal defect, Thick vermilion border, High palate, T... |
OMIM:618651 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Broad... |
ORPHA:1942 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal heart... |
OMIM:184705 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the e... |
OMIM:610168 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Overlapping toe, Genu recurvatum, Hip dislocation, Elbow flexion contracture, Ta... |
OMIM:617301 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foo... |
OMIM:249000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
StĆ¼ve-Wiedemann Syndrome |
|
Bowing of the long bones, Sacral dimple, Camptodactyly of finger, Micromelia, Abnormality of the ... |
ORPHA:3206 |
22Q11.2 Deletion Syndrome |
|
Short neck, Short philtrum, Atrial septal defect, Vesicoureteral reflux, Arachnodactyly, Abnormal... |
ORPHA:567 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dementia, Hypoalbuminemia, High ... |
OMIM:277900 |
Mucolipidosis Type Ii |
|
Hip contracture, Abnormal mitral valve morphology, Limited wrist movement, Kyphosis, Hip dislocat... |
ORPHA:576 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Kyphosis, Scoliosis, Abnormal mitral valve morphology, Short hard palate, Genu... |
ORPHA:1969 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Hiatus hernia, Adducted thumb, ... |
OMIM:601776 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Hypoplastic ... |
OMIM:119600 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, N... |
ORPHA:79500 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Clinoda... |
OMIM:618505 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Deep philtrum, Renal cyst, Wide mouth, Talipes equinovarus, Mitral stenosis, Smooth p... |
OMIM:617260 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia |
OMIM:614520 |
Faciocardiorenal Syndrome |
|
Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f... |
ORPHA:1973 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, High palate, Reduced blood folate concentration, Atrial septal defect... |
OMIM:619488 |
Barth Syndrome |
|
Dilated cardiomyopathy, 3-Methylglutaconic aciduria, Talipes equinovarus, Endocardial fibroelasto... |
OMIM:302060 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move... |
OMIM:261540 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Complete atrioventricular canal defe... |
OMIM:619343 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux, 2-4 finger sy... |
OMIM:107480 |
Sclerosteosis 1 |
|
Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic gird... |
OMIM:269500 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala... |
OMIM:609465 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Pes planus, Congenital hip dislocation, Arachnodactyly, Dental crowding, Protrusio acetabuli, Kyp... |
OMIM:225400 |
Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o... |
ORPHA:84 |
X-Linked Intellectual Disability, Nascimento Type |
|
Pes cavus, Ventricular septal defect, Overlapping toe, Hypospadias, Deep philtrum, Double outlet ... |
ORPHA:163956 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Single transverse palmar crease, Hypospadias, Metatarsus adductus, Cle... |
OMIM:614866 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo... |
ORPHA:2363 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... |
ORPHA:14 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
Stt3B-Cdg |
|
Abnormal glycosylation, Micropenis |
ORPHA:370924 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Talipes equinovarus, Short tibia |
OMIM:620306 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Atrial s... |
OMIM:304120 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Rett Syndrome, Congenital Variant |
|
Pes planus, Thin upper lip vermilion, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation, Micropenis |
OMIM:615597 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Abnormal dental ... |
ORPHA:1896 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Velopharyngeal insufficiency, Dental malocclusion, Gingival overgrowth... |
OMIM:209885 |
Meier-Gorlin Syndrome 3 |
|
Hypospadias, Aplasia/Hypoplasia of the patella, Patellar aplasia, Patellar hypoplasia, Coxa vara,... |
OMIM:613803 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Penoscrotal hypospadias |
OMIM:616489 |
Stt3A-Cdg |
|
Abnormal glycosylation, Micropenis |
ORPHA:370921 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Pes cavus, Talipes equinovarus, Scoliosis |
ORPHA:98808 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Thin upper lip vermilion, Sacral dimple, Short neck, High, narrow palate, Talipes cavus equinovar... |
OMIM:300966 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Duplication of thu... |
OMIM:601707 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Abnormal glycosylation |
OMIM:616828 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Aortopulmonary window, Coronal ... |
OMIM:620025 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
Autosomal Dominant Cutis Laxa |
|
Pes planus, Genu recurvatum, Unilateral renal agenesis, Dilatation of the ventricular cavity, Hip... |
ORPHA:90348 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Wide mouth, Short philtrum, Talipes equinovarus |
OMIM:613744 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Vesico... |
OMIM:603467 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Postaxial hand ... |
ORPHA:110 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormal metabolism |
ORPHA:77296 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ... |
ORPHA:522077 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Wide mouth, Hand polydactyly, Foot polydactyly |
ORPHA:60040 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Talipes... |
OMIM:613355 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Knee flexion contracture, Anteriorly placed anus, Atrial septal defec... |
OMIM:606170 |
Prader-Willi Syndrome |
|
Thin upper lip vermilion, Syndactyly, Carious teeth, Kyphosis, Acromicria, Small hand, Narrow pal... |
OMIM:176270 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Kyphosis, Myelomeningocele... |
ORPHA:1393 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fi... |
OMIM:616263 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Pes planus, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability, Bladder diverticulum, Ta... |
OMIM:614557 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistula, Bi... |
OMIM:619708 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Micr... |
OMIM:613610 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Talipes equinovarus |
OMIM:191830 |
Neurooculorenal Syndrome |
|
Intestinal malrotation, Dextrocardia, Short hallux, Unilateral renal agenesis, Short 1st metacarp... |
OMIM:620305 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Thoracic kyphoscoliosis, Ulnar deviation of the hand, Talipes equinovar... |
OMIM:616503 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Aganglionic megacolon, Tapered finger, Short philtrum, Talipes equinovarus |
OMIM:613603 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger |
ORPHA:86822 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, High palate, Talipes equinovarus, Hand clenching, Open mouth |
OMIM:614653 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Short neck, Calcaneovalgus deformity, Patent foramen ovale, Finger synda... |
OMIM:256520 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Scoliosis |
ORPHA:2169 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Cleft lip, Vesicoureter... |
OMIM:616975 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Short neck, Clubbing, Micropenis, Thin vermil... |
ORPHA:96123 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb |
ORPHA:139471 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short attention span, Depression, Irritability, Diminished ability to concentrate, Cognitive impa... |
OMIM:619475 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Submucous cleft hard palate, Vertebral clefting, Cle... |
OMIM:301043 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Finger syndactyly, Ventricular septal defect, Ectopic kidney, Short toe, Or... |
ORPHA:1519 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... |
OMIM:236700 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormality of the lower limb, O... |
ORPHA:1556 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Multiple renal cysts, Talipes equinovarus, Red... |
OMIM:618733 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Desmosterolosis |
|
Rhizomelia, Gingival fibromatosis, Alveolar ridge overgrowth, Cleft palate, Bilateral talipes equ... |
OMIM:602398 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Congenital hip dislocation, Exaggerated cupid's bow, Long fingers, Hypoplastic coccygeal vertebra... |
OMIM:619512 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Knee osteoarthritis, High palate, Atrial septal defect, Bifid uvula, Arach... |
OMIM:613795 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, S... |
ORPHA:2211 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Atrial septal ... |
OMIM:619472 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Downturned corners of mouth, High palate, Talipes equinovarus, Everte... |
OMIM:616393 |
Congenital Myopathy 13 |
|
Kyphoscoliosis, Cleft palate, Downturned corners of mouth, High palate, Bilateral talipes equinov... |
OMIM:255995 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
D-Bifunctional Protein Deficiency |
|
Split hand, Renal cyst, Hammertoe, High palate, Talipes equinovarus, Long philtrum |
OMIM:261515 |
Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect, Talipes equinovarus |
OMIM:616777 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Kyphoscoliosis, Hip dislocation, Micropenis, Hip dysplasia, Talipes equi... |
OMIM:617403 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Renal insufficiency, Ventricular septal defect, Limited ... |
OMIM:218040 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Open bite, Deep philtrum, Wide mouth, Short foot, Ever... |
ORPHA:1974 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, ... |
ORPHA:353277 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rec... |
OMIM:309800 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, ... |
OMIM:214800 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Pes planus, Sacral dimple, Hypospadias, Single transverse ... |
OMIM:223370 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Split hand, Clubbing, Cleft palate, Micr... |
OMIM:600460 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistula, Bilateral renal h... |
ORPHA:49 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior... |
OMIM:305600 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Thick lower lip... |
OMIM:619727 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Renal hypoplasia, ... |
OMIM:617666 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phocome... |
OMIM:268300 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Downturned corners of mouth, Genu varum, Long toe, Hyp... |
OMIM:264090 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... |
OMIM:615709 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Abnormal glycosylation |
OMIM:617395 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short upper lip, Wide mouth, Cutaneous ... |
OMIM:200110 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Abnormal dental enamel morphology, Premature loss of prima... |
ORPHA:2908 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... |
ORPHA:2136 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Senior-Boichis Syndrome |
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Attention deficit hyperactivity disorder, Increased total bilirubin |
ORPHA:84081 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Hyperbilirubinemia |
ORPHA:464321 |
14Q22Q23 Microdeletion Syndrome |
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Finger syndactyly, Toe syndactyly, Renal hypoplasia, Downturned corners of mouth, Short foot, Sho... |
ORPHA:264200 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
Sotos Syndrome |
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Ureteral duplication, No permanent dentition, Pedal edema, Vesicoureteral reflux, Atrial septal d... |
ORPHA:821 |
Optic Atrophy 11 |
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Bilateral talipes equinovarus |
OMIM:617302 |
Ogden Syndrome |
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Irritability, Hyperbilirubinemia |
OMIM:300855 |
Fructose Intolerance, Hereditary |
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Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Alpha-Mannosidosis, Infantile Form |
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Short neck, Genu valgum, Oligosacchariduria, Macroglossia, Cortical thickening of long bone diaph... |
ORPHA:309282 |
Caroli Disease |
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Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
Liver Disease, Severe Congenital |
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Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
Long Qt Syndrome 8 |
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Syndactyly |
OMIM:618447 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Classical Ehlers-Danlos Syndrome |
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Pes planus, Phalangeal dislocation, Hiatus hernia, Abnormal foot morphology, Rectal prolapse, Hip... |
ORPHA:287 |
Pearson Marrow-Pancreas Syndrome |
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Hyperbilirubinemia |
OMIM:557000 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Neurocardiofaciodigital Syndrome |
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Syndactyly, Vesicoureteral reflux, Double inlet left ventricle, Thin vermilion border, High palat... |
OMIM:619869 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Irritability, Unconjugated hyperbilirubinemia |
OMIM:618278 |
Fanconi-Bickel Syndrome |
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Bowing of the long bones, Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocal... |
ORPHA:2088 |
Fraser Syndrome |
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Hypoplasia of penis, Dental crowding, Orofacial cleft, Urethral atresia, Vertebral segmentation d... |
ORPHA:2052 |
Fontaine Progeroid Syndrome |
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Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Oligodontia, Atrial septal de... |
OMIM:612289 |
Bilateral Polymicrogyria |
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Wide mouth, Difficulty in tongue movements, Talipes equinovarus |
ORPHA:268940 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
Choroidal Atrophy-Alopecia Syndrome |
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Finger syndactyly |
ORPHA:1433 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia |
ORPHA:168577 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia |
ORPHA:30391 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261537 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Syndactyly, Smooth philtrum, Long philtrum |
OMIM:616430 |
Reynolds Syndrome |
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Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
Adult Syndrome |
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Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... |
ORPHA:978 |
Hardikar Syndrome |
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Irritability, Hyperbilirubinemia |
OMIM:301068 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Syndactyly, Short lingual frenulum, Unilateral brachydactyly, Wide mouth, High palate, Aplasia/Hy... |
ORPHA:1521 |
Hartsfield Syndrome |
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Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Cleft palate, Ectrodactyly, Micropenis |
OMIM:615465 |
Parkinsonian-Pyramidal Syndrome |
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Neurogenic bladder, Talipes equinovarus |
ORPHA:171695 |
Scalp-Ear-Nipple Syndrome |
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Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, 3-4 finger cut... |
OMIM:181270 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Talipes equinovarus, Tibialis muscle weakness |
ORPHA:320375 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Deep philtrum, Vesicou... |
OMIM:150230 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Urethral stricture, Erosion of oral mucosa, Renal insufficiency, Foot joint contracture, Anal fis... |
ORPHA:79408 |
Mowat-Wilson Syndrome |
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Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d... |
ORPHA:2152 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hyperbilirubinemia, Progressive neurologic deterioration |
OMIM:210710 |
Japanese Encephalitis |
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Genu recurvatum, Elbow flexion contracture, Distal upper limb muscle weakness, Talipes equinovaru... |
ORPHA:79139 |
Aprosencephaly And Cerebellar Dysgenesis |
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Talipes equinovarus, Bifid uvula |
OMIM:601374 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Calcaneovalgus d... |
ORPHA:261552 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Congenital Erythropoietic Porphyria |
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Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... |
ORPHA:79277 |
Yellow Fever |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Coffin-Siris Syndrome 12 |
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Hypospadias, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pala... |
OMIM:619325 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:620186 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Vascular Ehlers-Danlos Syndrome |
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Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodon... |
ORPHA:286 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Short neck, Lo... |
OMIM:620330 |
Genitourinary And/Or Brain Malformation Syndrome |
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Syndactyly, Jejunal atresia, Hypospadias, Ileal atresia, Kyphoscoliosis, Chordee, Long philtrum, ... |
OMIM:618820 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cystocele, Foot acroosteolysis, Mitral valve prolapse, Osteolytic defects of the phalanges of the... |
OMIM:130050 |
Proteus Syndrome |
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Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val... |
ORPHA:744 |
Bloom Syndrome |
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Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Agenesis of maxillary lateral incisor |
OMIM:210900 |
Developmental And Epileptic Encephalopathy 50 |
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Abnormal glycosylation, Renal tubular acidosis, Oroticaciduria |
OMIM:616457 |
Fraser Syndrome 3 |
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Ureteral agenesis, Short toe, Hypoplasia of penis, Cutaneous syndactyly |
OMIM:617667 |
Paroxysmal Nocturnal Hemoglobinuria |
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Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Monosomy 13Q14 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short neck, Clinodactyly of the 5th finger, B... |
ORPHA:1587 |
Steinert Myotonic Dystrophy |
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Tented upper lip vermilion, Intestinal pseudo-obstruction, Abnormality of the tongue muscle, Dila... |
ORPHA:273 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Hydroxykynureninuria |
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Abnormal circulating tryptophan concentration |
ORPHA:79155 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |