Upington Disease |
|
Multiple enchondromatosis, Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Upington Disease |
|
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... |
ORPHA:3408 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal epiphysis morphology |
ORPHA:2499 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Postaxial Tetramelic Oligodactyly |
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Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Coxopodopatellar Syndrome |
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Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Santos Syndrome |
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Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Syndactyly Type 1 |
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Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Syndactyly, Type Iii |
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Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Triphalangeal Thumb, Nonopposable |
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Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
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Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Meier-Gorlin Syndrome 5 |
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Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... |
OMIM:613805 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
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Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ... |
OMIM:609325 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
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Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... |
OMIM:208100 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Dermochondrocorneal Dystrophy |
|
Large hands, Corneal dystrophy, Abnormality of the hand |
ORPHA:79149 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia... |
OMIM:258860 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Cleft palate, Orofacial cleft, Ab... |
ORPHA:1988 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me... |
OMIM:609324 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Pes cavus, Flexion contracture, Proxim... |
OMIM:619216 |
Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar apl... |
OMIM:613804 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ... |
ORPHA:2058 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne... |
OMIM:181400 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radi... |
ORPHA:1388 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology... |
ORPHA:1277 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... |
ORPHA:3320 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Metachondromatosis |
|
Multiple enchondromatosis, Bowing of the long bones |
OMIM:156250 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel... |
OMIM:201170 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Rapadilino Syndrome |
|
Joint dislocation, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow palate, Cleft pa... |
OMIM:266280 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... |
OMIM:614335 |
Winchester Syndrome |
|
Arthropathy, Corneal opacity, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Bro... |
OMIM:277950 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ... |
OMIM:606835 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon... |
ORPHA:1146 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous finger sy... |
OMIM:224690 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Hearing impairment, Micrognathia, Hypoplastic ilia, P... |
ORPHA:85201 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... |
OMIM:268305 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Brachydactyly, Type A2, With Microcephaly |
|
Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop... |
OMIM:211369 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Tetrasomy X |
|
Abnormality of the dentition, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:9 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Narr... |
OMIM:618435 |
Nail-Patella Syndrome |
|
Pes planus, Glenoid fossa hypoplasia, Cleft upper lip, Sensorineural hearing impairment, Patellar... |
OMIM:161200 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Congenital Patella Dislocation |
|
Aplasia/Hypoplasia of the quadriceps, Genu valgum, Knee flexion contracture, Patellar dislocation... |
ORPHA:295036 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
Scholte Syndrome |
|
Acromicria, Small hand, Patellar hypoplasia, Short foot, Everted lower lip vermilion |
OMIM:300977 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Patellar aplasia, Cleft palate,... |
ORPHA:96061 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Hearing impairment, Cleft upper lip, Abnormality of the dentition, Micro... |
ORPHA:96167 |
Moderate Multiminicore Disease With Hand Involvement |
|
Facial palsy, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper limb muscle weakness,... |
ORPHA:178145 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali... |
ORPHA:1326 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Scoliosis, Clinoda... |
ORPHA:3268 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Downturned corners of mouth, High... |
OMIM:265000 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Macrotia, Protruding ear, Patellar hypoplasia, Micrognathia |
OMIM:251240 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplication of thumb ph... |
ORPHA:2756 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... |
OMIM:184255 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Pseudoachondroplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Abnormal form of the verte... |
ORPHA:750 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... |
ORPHA:2554 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna... |
ORPHA:93333 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Micrognathia, Narrow mouth, Patellar aplasia, Slender long bone, Micro... |
OMIM:613800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Pes planus, Spina... |
OMIM:600175 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Talipes equinovarus, Upper limb amyotrophy |
ORPHA:99940 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Aplasia/Hypoplasia of t... |
OMIM:613803 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Aase-Smith Syndrome |
|
Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of ... |
ORPHA:916 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus... |
ORPHA:2614 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond... |
OMIM:256050 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Tooth agenesis, I... |
OMIM:600204 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Enchondromatosis, Multiple, Ollier Type |
|
Abnormal long bone morphology, Multiple enchondromatosis |
OMIM:166000 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Low... |
OMIM:601357 |
Arthrogryposis, Distal, Type 1C |
|
Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris... |
OMIM:619110 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... |
OMIM:605274 |
Bowen-Conradi Syndrome |
|
Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Orofacial cleft, Cli... |
ORPHA:1270 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... |
ORPHA:56304 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Sensorineural hearing impairment, Hip dislocation, Cleft palate, Hand polydactyl... |
OMIM:223200 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Joint dislocation, Abnormality of the dentition |
ORPHA:2380 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Sandal gap, Posteriorly rotated ears, Patellar aplasia, Cleft palate, Hip dysp... |
OMIM:616835 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing... |
ORPHA:949 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,... |
ORPHA:1406 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Abnormality of the dentition, Micrognathia, High palate, Short philtr... |
ORPHA:217340 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Lower limb muscle weakness, Talipes equinovarus |
OMIM:610244 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... |
ORPHA:141152 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... |
ORPHA:2751 |
Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ... |
OMIM:158300 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thin upper lip vermilion, Micrognathia, 2-3 toe syndactyly, Short 5th finger, Low-set ears, Clino... |
OMIM:618608 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart... |
OMIM:277170 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... |
ORPHA:163665 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... |
OMIM:183700 |
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 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Glossoptosis, Abnor... |
ORPHA:166100 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
Bowen-Conradi Syndrome |
|
Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia |
OMIM:211180 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Arthrogryposis multiplex congenita, Ulnar deviation of the wrist, Talipes equinov... |
OMIM:619501 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Metatarsus adductus, Short toe... |
ORPHA:3041 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Talipes, Aplasia/Hypoplasia of the patella |
ORPHA:1149 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Thin vermilion border, Abnor... |
ORPHA:2370 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Abnormality of the endocrine system, Cryptorchidism, Gingival overgrowth... |
ORPHA:464288 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Accessory oral frenulum, Micrognathia, Preaxial hand polydactyly, Hypoplasia of th... |
ORPHA:79113 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, High... |
ORPHA:1927 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp... |
ORPHA:1858 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Knee dislocation, Hip dysplasia, Hip dislocation, Hammertoe |
ORPHA:370943 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Conductive hearing impai... |
OMIM:156550 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Cleft palate, Genu valgum, Ulnar deviation of fi... |
OMIM:222600 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... |
OMIM:132400 |
Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Limited elbow movement, Micrognathia, Abnormal foot morphology, Upper limb undergrow... |
ORPHA:94068 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Stapes ankylosis, Intestinal malrotation, Ve... |
OMIM:614701 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
2q37 monosomy |
|
Thin upper lip vermilion, Brachydactyly |
DECIPHER:44 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Fing... |
OMIM:601492 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adducted t... |
OMIM:614257 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sandal gap, Malar flattening, Long fingers, Patellar hypoplasia, Protruding... |
ORPHA:261279 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu v... |
ORPHA:221016 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica... |
ORPHA:1190 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Bra... |
ORPHA:1919 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p... |
ORPHA:65759 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p... |
ORPHA:93307 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
Li-Campeau Syndrome |
|
Low-set ears, Patellar hypoplasia, Long philtrum |
OMIM:619189 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia, Bilateral single transverse palma... |
ORPHA:2842 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... |
ORPHA:166024 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3236 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Thin vermilion border, Brachydactyly |
ORPHA:3303 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening |
OMIM:300261 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Abnormal pinna morphology, Tented philtrum, Patellar aplasia, Patellar h... |
ORPHA:495818 |
Achondroplasia |
|
Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulna... |
OMIM:100800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Cataract, Abnormal hair morphology, Preaxial polydactyly, Scol... |
ORPHA:64754 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... |
OMIM:225280 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Narrow palate, Brachydactyly |
OMIM:617169 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Auriculoosteodysplasia |
|
Hip dysplasia, Dislocated radial head |
OMIM:109000 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Coxa valga |
OMIM:271620 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Pseudoachondroplasia |
|
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... |
OMIM:177170 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Short metacarpal, Plantar hyperkeratosis, Abnormal dental enamel morph... |
ORPHA:221008 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Dental crowding, Metaphyseal widening, Flared me... |
OMIM:123000 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth to... |
OMIM:601559 |
20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adduct... |
ORPHA:444051 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Postaxial p... |
OMIM:617925 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Hyp... |
ORPHA:63442 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Low-set ears |
OMIM:616570 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Posteriorly rotated ears, Wormian bones, Decreased fibular diamete... |
OMIM:616897 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Pes cavus, Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Tal... |
OMIM:608340 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, High palate, Prenat... |
OMIM:618393 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... |
ORPHA:1837 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Weyers Acrofacial Dysostosis |
|
Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Solitary median maxillary ... |
OMIM:193530 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... |
OMIM:620269 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowing... |
OMIM:608940 |
Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... |
OMIM:614669 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... |
OMIM:620107 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Distal lower limb amyotrophy, Small hypothenar eminence, Upper limb muscle weakness, Small thenar... |
OMIM:609311 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L... |
OMIM:615314 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand poly... |
OMIM:241800 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, ... |
ORPHA:2511 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Increased connective tissue, Macroglossia, Calf muscle hypertrophy, Musc... |
OMIM:616827 |
Sprengel Deformity |
|
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature |
ORPHA:3181 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe... |
OMIM:190351 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Cryptorchidism, Cleft palate, High palate, C... |
ORPHA:376 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Pes planus, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinod... |
ORPHA:521308 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hearing impairment, Hypoplastic ilia, Abnormal... |
ORPHA:1860 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Lower limb amyotrophy, Upper limb amyotrophy, Talipes equinovarus, Pes cavus, Foot dorsiflexor we... |
OMIM:617087 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle phalanx of 5th finger, Tri... |
OMIM:124480 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Brachydactyly, Single transverse palmar crease, Dental malocc... |
OMIM:601957 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con... |
OMIM:602080 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Pes planus, Micrognathia, Cleft lip, Sensorineural hearing impairment, ... |
OMIM:301022 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... |
ORPHA:99642 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... |
OMIM:601680 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Thick lower lip vermilion, Small hand, Abnormal femur morphology,... |
ORPHA:969 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Talipes equinovarus |
OMIM:615683 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Hypogonadism, Brachydactyly |
OMIM:615982 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Scapuloperoneal amyotrophy, Distal amyotrophy, Talipes equinovarus, Join... |
OMIM:611067 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod... |
OMIM:184250 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature |
OMIM:253310 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris coloboma, Brac... |
OMIM:610023 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Limited interphalangeal movement, Ab... |
OMIM:147750 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Micrognathia, Trismus, Narrow mouth, Whistling appearance, Elbow fl... |
OMIM:277720 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Short metacarpal, Brachydactyly, Genu recurvatum, Mi... |
OMIM:184260 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... |
OMIM:600325 |
Developmental Dysplasia Of The Hip 2 |
|
Hip dysplasia, Coxa valga |
OMIM:615612 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5... |
ORPHA:1777 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... |
OMIM:614188 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... |
ORPHA:2980 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Flexion contracture, Talipes equinovarus |
OMIM:613162 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Whistling appearance, Hearing abnormality, Pierr... |
ORPHA:1150 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Micrognathia, Posterio... |
OMIM:618529 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Small hand, Dow... |
OMIM:618779 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... |
ORPHA:166011 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar sy... |
ORPHA:921 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn... |
ORPHA:1506 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Keipert Syndrome |
|
Broad hallux, Exaggerated cupid's bow, Downturned corners of mouth, Broad distal phalanx of finge... |
OMIM:301026 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Bilateral single transverse palmar creases, Micrognathia, High, narrow ... |
ORPHA:444002 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Thin upper lip vermilion, Dental crowding, Brachydactyly |
OMIM:618879 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Cataract, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis... |
OMIM:300337 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Dental malocclusion, Abnormal pelvic girdle bone morphology, Me... |
OMIM:144750 |
Arthrogryposis, Distal, Type 2E |
|
Joint contracture of the hand, Distal arthrogryposis, Foot joint contracture, Talipes equinovarus |
OMIM:121070 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Wide mouth,... |
ORPHA:1827 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... |
OMIM:602849 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... |
OMIM:305620 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Short foot, Cone-shaped epiphysis, Short long bone, Lon... |
OMIM:102370 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Moebius Syndrome |
|
Decreased testicular size, Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, ... |
OMIM:157900 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... |
ORPHA:85198 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... |
OMIM:271530 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Rocker bottom foot, Micrognathia, Death in childhood, Thin vermilion border, Lo... |
OMIM:618766 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Small hand, Wide mouth, Broad finger,... |
OMIM:614684 |
Smith-Magenis syndrome |
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Brachydactyly |
DECIPHER:8 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Hip contracture, Scapular winging, Pes planus, Spinal muscular atrophy, Achilles tendon contractu... |
OMIM:615290 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Anauxetic Dysplasia 2 |
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Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Macroglossia, Short... |
OMIM:617396 |
Cenani-Lenz Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Osteopetrosis, Autosomal Dominant 1 |
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Mandibular pain, Abnormal pelvic girdle bone morphology, Torus palatinus, Conductive hearing impa... |
OMIM:607634 |
Symphalangism, Distal |
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Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long ... |
ORPHA:93346 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Osteofibrous Dysplasia, Susceptibility To |
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Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace... |
OMIM:617405 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Osteopenia, Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar musc... |
ORPHA:2463 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Distal lower limb amyotrophy, Areflexia of upper limbs, Intrinsic hand muscle atrophy, Upper limb... |
ORPHA:90103 |
Frontometaphyseal Dysplasia |
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Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Cornelia De Lange Syndrome 2 |
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Thin upper lip vermilion, Proximal placement of thumb, Limited elbow movement, Micrognathia, Smal... |
OMIM:300590 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
Pseudopseudohypoparathyroidism |
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Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Enamel h... |
OMIM:612463 |
Campomelic Dysplasia |
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Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Variant Abeta2M Amyloidosis |
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Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Arthralgia... |
ORPHA:314652 |
Weismann-Netter Syndrome |
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Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... |
OMIM:616531 |
Osteopetrosis, Autosomal Recessive 6 |
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Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the ilia... |
OMIM:611497 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi... |
OMIM:164900 |
Cardioacrofacial Dysplasia 2 |
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Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr... |
OMIM:619143 |
Marinesco-Sjögren Syndrome |
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Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnorma... |
ORPHA:559 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondy... |
OMIM:601356 |
Tricho-Retino-Dento-Digital Syndrome |
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Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... |
ORPHA:1264 |
Coxoauricular Syndrome |
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Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M... |
ORPHA:1508 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
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Down-sloping shoulders, Carious teeth, Clinodactyly of the 5th finger, Malar flattening, Retrogna... |
ORPHA:1390 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Micrognathia, Conductive hearing impairment, Short foot, Microtia, High palate, Joint contracture... |
OMIM:248910 |
Tarsal-Carpal Coalition Syndrome |
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Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Shox-Related Short Stature |
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Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi... |
ORPHA:314795 |
Acromegaloid Facial Appearance Syndrome |
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Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion border, Short 5th metac... |
OMIM:102150 |
Bardet-Biedl Syndrome 10 |
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Polydactyly |
OMIM:615987 |
Ophthalmomandibulomelic Dysplasia |
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Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ... |
ORPHA:2741 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Micrognathia, Fu... |
ORPHA:1387 |
Cleft Palate-Large Ears-Small Head Syndrome |
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Micrognathia, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Protruding ear, Macro... |
ORPHA:2013 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Rocker bottom foot, Micrognathia, Areflexia of lower limbs, Hip dysplasia, High palate, Talipes e... |
OMIM:611890 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
Heart-Hand Syndrome, Spanish Type |
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Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Otopalatodigital Syndrome Type 1 |
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Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
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Congenital hip dislocation, Cigarette-paper scars, Atrophic scars, Talipes equinovarus, Hernia |
OMIM:130010 |
Hypoglossia-Hypodactyly Syndrome |
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Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Talo-Patello-Scaphoid Osteolysis |
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Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Microphthalmia With Limb Anomalies |
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Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
14Q11.2 Microdeletion Syndrome |
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Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Mic... |
ORPHA:261120 |
Bardet-Biedl Syndrome 7 |
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Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Mandibular prognathia, Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, O... |
OMIM:165800 |
Orofaciodigital Syndrome Type 5 |
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Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus |
OMIM:613710 |
Grant Syndrome |
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Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Bro... |
OMIM:300602 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
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Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Pierre-Robin sequence... |
OMIM:184840 |
Congenital Disorder Of Glycosylation, Type Ig |
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Thin upper lip vermilion, Short humerus, Short femur, Rhizomelia, Sandal gap, Abnormal pinna morp... |
OMIM:607143 |
Urban-Rogers-Meyer Syndrome |
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Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cryptorchidis... |
ORPHA:3409 |
Smith-Mccort Dysplasia 2 |
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Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor... |
OMIM:615222 |
Pfeiffer Syndrome |
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Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of... |
ORPHA:710 |
Eng-Strom Syndrome |
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Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Pelvis-Shoulder Dysplasia |
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Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, Posteriorly rotated ears, Micrognathia, High, narrow palate, Conductiv... |
ORPHA:2780 |
Arthrogryposis, Distal, Type 5D |
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Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... |
OMIM:615065 |
Mesomelic Dysplasia, Kantaputra Type |
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Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Nicolaides-Baraitser Syndrome |
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Short palm, Joint dislocation, Sandal gap, High, narrow palate, Cryptorchidism, Abnormal finger m... |
ORPHA:3051 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Hip contracture, Internally rotated shoulders, Dental crowding, Ankle flexion contracture, Microg... |
OMIM:617468 |
Arthrogryposis, Distal, Type 2B3 |
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Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge... |
OMIM:618436 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
Catel-Manzke Syndrome |
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Joint dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
Laron Syndrome |
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Delayed eruption of teeth, Micrognathia, Abnormality of the endocrine system, Short toe, Abnormal... |
ORPHA:633 |
Joubert Syndrome 18 |
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Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... |
OMIM:614815 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Conductive hearing impairment, Uln... |
OMIM:171480 |
Chondroectodermal Dysplasia With Night Blindness |
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Metaphyseal dysplasia, Abnormality of the knee, Epiphyseal dysplasia, Abnormal dental morphology,... |
ORPHA:319195 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia |
ORPHA:296 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly |
OMIM:612913 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Lowe... |
ORPHA:2063 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysi... |
OMIM:607095 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:776 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... |
ORPHA:1597 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... |
ORPHA:457395 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Ulnar deviation of finger, Protrud... |
ORPHA:1147 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Posteriorly rotated ears, Micrognathia, Carious... |
OMIM:613684 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Hearing abnormality, Cleft palate, Abnormal hip bone morphology, Hypop... |
ORPHA:577 |
Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Small hand, Short foot,... |
ORPHA:11 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Primary Pulmonary Hypoplasia |
|
Low-set ears, Micrognathia, Cleft palate, Patellar hypoplasia |
ORPHA:2257 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus |
ORPHA:85174 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Endocardial Fibroelastosis |
|
Low-set, posteriorly rotated ears, Sandal gap, Micrognathia, Abnormal helix morphology, Abnormal ... |
ORPHA:2022 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Craniosynostosis, Coxa valga, Metatarsus adductus, Sensorineural hearing... |
ORPHA:356961 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Micrognathia, Acromicria, Small hand, Downturned corners of mo... |
ORPHA:254525 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Hypoplasti... |
OMIM:606170 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Posteriorly rotated ears, Hearing impairment, Micrognathia, Clinodactyl... |
OMIM:613604 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Pes planus, Uplifted earlobe, Micrognathia, Tapered finger, Malar promi... |
ORPHA:3459 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl... |
ORPHA:2619 |
Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Thick lower lip vermilion, Microdontia of pr... |
OMIM:234250 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Prominent fingertip pads, Cholesteatoma |
OMIM:614113 |
Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m... |
OMIM:277150 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Macrotia, Short di... |
OMIM:181180 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... |
OMIM:113300 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic... |
OMIM:114300 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... |
OMIM:244600 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Talipes... |
ORPHA:496689 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... |
ORPHA:485405 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... |
ORPHA:250984 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus, Distal amyotrophy, Facial palsy |
OMIM:601382 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Joint dislocation, Bowing of the long bones, Camptodactyly of ... |
ORPHA:628 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... |
OMIM:136760 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar fla... |
ORPHA:93946 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Talipes, Hypoplasia of the musculature |
OMIM:225790 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, High, narrow palate, Short th... |
ORPHA:436003 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... |
ORPHA:2831 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Cleft palate, Genu valgum, Small pituitary gland, Decreased testicular size |
OMIM:614880 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Simple ear... |
OMIM:602471 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Oligodontia,... |
OMIM:618853 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequen... |
OMIM:604841 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali... |
ORPHA:83468 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarpal... |
OMIM:619638 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... |
ORPHA:88630 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Pyloric stenosis, Ti... |
OMIM:613848 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Tibialis anterior muscle atrophy, Lower limb muscle weakness, Talipes equinovarus, Lower limb amy... |
OMIM:615035 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Pes planus, Arachnodactyly, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Inguinal hernia, Dermatoglyphic ridges abnormal, Small thenar eminence... |
OMIM:211960 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes,... |
ORPHA:502 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, ... |
OMIM:618011 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Craniosynostosis, Thick lower lip vermilion, Genu varum, Hip dislocation, Deep palmar... |
OMIM:619451 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal pelvic girdle bone... |
ORPHA:2097 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Premature pubarche, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Gingi... |
ORPHA:137834 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Prieto Syndrome |
|
Inguinal hernia, Coxa valga, Osteoporosis, Patellar subluxation, Talipes equinovarus, Patellar di... |
OMIM:309610 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru... |
ORPHA:1794 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Co... |
ORPHA:166272 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Hypopituitarism, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, Preaxial foot... |
OMIM:603671 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Metaphyse... |
OMIM:618961 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Cleft palate, W... |
OMIM:614607 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, High palate, Dislocated radial head, 2-4 finger synda... |
OMIM:617063 |
Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... |
ORPHA:178382 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft pal... |
ORPHA:85166 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:1795 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Posteriorly rotated ears, Bilateral cleft lip, Microgn... |
OMIM:164745 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Celiac disease, Abnormality of t... |
ORPHA:576283 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Adducted thumb, Hydrocele testis, Notched primary central inciso... |
OMIM:620062 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, ... |
OMIM:606851 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft palate, Malar fl... |
ORPHA:2145 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Narrow philtrum,... |
ORPHA:163654 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Elevated circul... |
ORPHA:439822 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Rocker bottom foot, Tapered finger, Cryptorch... |
OMIM:615547 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Abnormal earlobe morphology, Clef... |
ORPHA:217017 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion contracture, Hypoplas... |
OMIM:620369 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ... |
OMIM:618381 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Downturned corners of mouth, Sh... |
OMIM:601224 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi... |
ORPHA:3082 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly |
ORPHA:2150 |
Chung-Jansen Syndrome |
|
Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Thin vermilion border, High palate, S... |
OMIM:617991 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate... |
OMIM:164220 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Adv... |
OMIM:614613 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Micrognathia, Carious teeth, Talipes equinov... |
ORPHA:3132 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Micrognathia, Cleft pala... |
ORPHA:251019 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact... |
ORPHA:1327 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos... |
ORPHA:3238 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... |
OMIM:246560 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia |
OMIM:616540 |
Central Core Disease |
|
Pes planus, Multiple joint contractures, Congenital hip dislocation, Myopathy, Talipes equinovaru... |
ORPHA:597 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Pes planus, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Small h... |
OMIM:300354 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Trip... |
ORPHA:2251 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con... |
OMIM:254940 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel... |
ORPHA:1133 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg... |
ORPHA:3447 |
Giant Axonal Neuropathy |
|
Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes equinovarus, ... |
ORPHA:643 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Type II diabetes mellitus, Anal atresia... |
ORPHA:1436 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal ph... |
OMIM:612938 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Plantar flexion contracture, Absent Achilles reflex, Arthrogryposis-like... |
OMIM:620011 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbo... |
ORPHA:263463 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature |
ORPHA:85323 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... |
OMIM:180870 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Small hand, Short foot, High palate, Short philtrum, Recurrent otitis media, Clinod... |
ORPHA:254531 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Downturned corners of mouth, Micr... |
OMIM:615162 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Rocker bottom foot, Camptodactyly o... |
ORPHA:251056 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Microtia, Everted lower lip vermi... |
ORPHA:357175 |
Aniridia And Absent Patella |
|
Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Abnormal foot morphology, Hypoplasia of the odontoid process... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, High pal... |
OMIM:210600 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... |
OMIM:620076 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Large tarsal bones, Micrognathia... |
OMIM:215150 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ... |
OMIM:617412 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Cryptorchidism, Deep philtrum, Abnormality of the elbow, Thick lower lip vermilion... |
ORPHA:2701 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hy... |
OMIM:276820 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Hypogonadotropic hypogonadism, Genu valgum, Hypoplasia o... |
ORPHA:1295 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... |
ORPHA:93351 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... |
ORPHA:2994 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly |
ORPHA:2762 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Auriculoosteodysplasia |
|
Attached earlobe, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of th... |
ORPHA:114 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh... |
OMIM:611717 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty... |
OMIM:615986 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Long philtrum, High palate, Talipes equ... |
OMIM:616354 |
Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in... |
ORPHA:52429 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Quadriceps muscle... |
ORPHA:99948 |
Larsen-Like Syndrome |
|
Joint dislocation, Dental malocclusion, Cleft palate, Talipes equinovarus, Radial deviation of th... |
OMIM:608545 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Carious teeth, Central adrenal insuff... |
OMIM:612079 |
Coffin-Siris Syndrome 6 |
|
Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Cl... |
OMIM:617808 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormal foot morpholog... |
ORPHA:1657 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S... |
OMIM:619339 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Nescav Syndrome |
|
Flexion contracture, Talipes equinovarus |
OMIM:614255 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Cl... |
ORPHA:1752 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Rhizomelia, Squared iliac... |
OMIM:611209 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Intrinsic hand muscle atrophy, Genu valgum, ... |
ORPHA:3115 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Per... |
OMIM:265800 |
Sprengel Deformity |
|
Shoulder muscle hypoplasia, Neck muscle hypoplasia |
OMIM:184400 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral talipes equinova... |
OMIM:617194 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Cataract, Genu recurvatum, Abnormal cornea m... |
ORPHA:2611 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodact... |
ORPHA:251028 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Upper limb muscle weakness, Areflexia of lower limbs, Talipes equinovar... |
OMIM:616155 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Posteriorly rotated ears, Micromelia, Micrognathia... |
ORPHA:93329 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Thin upper lip vermilion, Hypogonadotropic ... |
ORPHA:353298 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thu... |
OMIM:610758 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Exaggerated cupid's bow, Tapered finger, Micrognathia, Long fingers,... |
OMIM:618659 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Postnatal growth retardation, Congenital knee dislocation, Bilateral talipes equinovarus, Hand cl... |
ORPHA:319332 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Split hand, Distal amyotrophy, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus, Foot dorsif... |
OMIM:604563 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond... |
OMIM:117650 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Short middle phalanx of finger, Ta... |
ORPHA:93388 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Abnormality o... |
ORPHA:94065 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, ... |
OMIM:619636 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Micromelia, Short iliac bones, Abnormal iliac wing morphology, Abnorma... |
ORPHA:3003 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Bowing of the legs, Micrognat... |
OMIM:613849 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ... |
OMIM:617926 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Crypto... |
ORPHA:3121 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Long philtrum, Brachydactyly, Short palm |
OMIM:618522 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... |
ORPHA:1798 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow disloc... |
ORPHA:2804 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Aganglionic megacolon, Type D brachydactyly |
OMIM:306980 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla... |
OMIM:614592 |
Rhizomelic Syndrome |
|
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat... |
OMIM:268250 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Sandal gap, Posteriorly rotated ears, Tapered finger, Cleft lip, Small hand, Cleft pa... |
OMIM:618089 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
3Mc Syndrome 2 |
|
Torticollis, Diastasis recti, Limited elbow movement, Hypoplasia of the musculature, Partial abdo... |
OMIM:265050 |
Charcot-Marie-Tooth Disease Type 4G |
|
Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal amyotrophy, Dist... |
ORPHA:99953 |
Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Amelia, A... |
ORPHA:1027 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger,... |
OMIM:612350 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormality of the den... |
ORPHA:178303 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys, Low anterio... |
OMIM:615761 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Dental malocclusion, Slender long bone, Short 5th fi... |
OMIM:612921 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal... |
ORPHA:2900 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard pala... |
OMIM:108300 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Downturned corne... |
ORPHA:93267 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, F... |
OMIM:300232 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Deviation of the 2nd finger, Oro... |
ORPHA:1305 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-shaped epiphy... |
OMIM:190350 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
Erythema Of Acral Regions |
|
Talipes equinovarus |
OMIM:227000 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Long ... |
OMIM:612916 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Retrognathia, Brachydactyly |
OMIM:618265 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... |
ORPHA:2557 |
Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl... |
OMIM:226960 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Short philtrum, ... |
ORPHA:798 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Pes planus, Micrognathia, Cryptorchidism, Velopharyngeal insufficiency... |
OMIM:300978 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Cleft palate, Protruding ear, Tooth agenesis, Abnormal hip bone morphology, Abnorma... |
ORPHA:1166 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Talipes equinovarus, Type 1 muscle fiber predominance, Nemaline b... |
OMIM:617336 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Cleft palate, High palate, Malar flattening, Open mouth |
OMIM:620021 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal wideni... |
OMIM:614376 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucou... |
ORPHA:2189 |
Aniridia-Absent Patella Syndrome |
|
Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac... |
OMIM:619981 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th... |
ORPHA:2319 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Microtia, Duodenal atresia |
OMIM:617798 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Pes planus, Everted upper lip vermilion, Abnormality of the dentition, Abn... |
OMIM:182290 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Abnormal dental enamel... |
ORPHA:2909 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,... |
ORPHA:1786 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El... |
ORPHA:79445 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidis... |
OMIM:103580 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Thick hair, Abnormal hair pattern, Long eyelashes, Spina bifida occulta, Gener... |
ORPHA:1514 |
Lambert Syndrome |
|
Inguinal hernia, Talipes equinovarus |
OMIM:245550 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Epiphyseal stippling, Abnor... |
OMIM:222765 |
Specific Granule Deficiency 2 |
|
Death in infancy, Brachydactyly, Sandal gap, Conical tooth, Death in childhood, Tooth malposition... |
OMIM:617475 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi... |
ORPHA:391474 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Talipes equinovarus |
ORPHA:85288 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg... |
OMIM:607131 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Joint dislocation, Scapular winging, Pes planus, Single transverse palmar crea... |
OMIM:618870 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... |
OMIM:604757 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short foot, Small hand, Talipes equinovarus, Hip dislocation |
OMIM:300434 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Precocious... |
OMIM:620073 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Absent palmar crease, Flat... |
ORPHA:157965 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,... |
OMIM:603543 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Brachydactyly |
ORPHA:168796 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Thin upper lip vermilion, Single transverse palmar crease, Sho... |
OMIM:616651 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Hypoplasia of the musculature, Ankle flexion contrac... |
ORPHA:2020 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p... |
OMIM:619941 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mouth, Lobulated tongue, Shor... |
OMIM:613443 |
Pontocerebellar Hypoplasia, Type 12 |
|
Talipes equinovarus, Overlapping fingers, Joint contracture, Rocker bottom foot |
OMIM:618266 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology... |
OMIM:618580 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly |
ORPHA:1426 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Hypoplasia of the musculature, Ulnar deviation of finge... |
ORPHA:1101 |
Osteoglosphonic Dysplasia |
|
Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted te... |
ORPHA:2645 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Cleft pala... |
OMIM:300882 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral t... |
ORPHA:2958 |
Larsen Syndrome |
|
Finger syndactyly, Short nail, Large joint dislocations, Craniosynostosis, Accessory carpal bones... |
ORPHA:503 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Abnormality of jaw muscles, Facial paralysis, Abnormal finger morphology, Bilateral talipes equin... |
ORPHA:2560 |
1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hip dislocation, Talipes equinovarus |
ORPHA:250994 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Cryptorchidism, Thi... |
OMIM:618950 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equino... |
OMIM:609128 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor... |
ORPHA:293725 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly |
ORPHA:436245 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Split hand, Talipes equinovarus |
OMIM:607831 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Enamel hypomineralization, Trap... |
OMIM:307800 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C... |
ORPHA:2754 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, ... |
OMIM:210710 |
Arthrochalasia Ehlers-Danlos Syndrome |
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Joint dislocation, Micrognathia, Avascular necrosis of the capital femoral epiphysis, Coxa valga,... |
ORPHA:1899 |
Salivary Gland Adenoma, Pleomorphic |
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Salivary gland neoplasm |
OMIM:181030 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Limited elbow extension and supination, Thin upper lip vermilion, Intestinal malrotation, Short t... |
ORPHA:401935 |
Curry-Jones Syndrome |
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Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
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Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... |
ORPHA:2010 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl... |
OMIM:620183 |
Tarp Syndrome |
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Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of ... |
OMIM:311900 |
2Q31.1 Microdeletion Syndrome |
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Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Hemifacial Atrophy, Progressive |
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Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami |
OMIM:141300 |
Cardiocranial Syndrome, Pfeiffer Type |
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Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Monosomy 18P |
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Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... |
ORPHA:1598 |
Hyperparathyroidism, Transient Neonatal |
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Wide cranial sutures, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs... |
OMIM:618188 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Cleft palate, Flat ac... |
ORPHA:163649 |
Holzgreve Syndrome |
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Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna,... |
ORPHA:2167 |
Seckel Syndrome 5 |
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11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ... |
OMIM:613823 |
Hypoglossia-Hypodactylia |
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Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Kyphomelic Dysplasia |
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Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han... |
ORPHA:1801 |
Acrocallosal Syndrome |
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Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Fanconi Anemia, Complementation Group O |
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Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi... |
OMIM:613390 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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11 pairs of ribs, Hip contracture, Pursed lips, Micrognathia, Metatarsus adductus, Calcaneovalgus... |
OMIM:616266 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Microtia, Short 5th finger, Atre... |
OMIM:239800 |
Buratti-Harel Syndrome |
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Broad hallux, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate... |
OMIM:619314 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Post... |
ORPHA:2759 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Abnormal pelvis bone morphology, Palmoplantar keratoderma |
ORPHA:2206 |
Schwartz-Jampel Syndrome, Type 1 |
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Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Deep philtrum, Metaphys... |
OMIM:255800 |
Myopathic Ehlers-Danlos Syndrome |
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Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Abnormal palate morp... |
ORPHA:93262 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum... |
ORPHA:96184 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Broad long bones, Posteriorly rotated ears, Miscarriage, Micromelia, Bowing of the legs, Microgna... |
ORPHA:1865 |
Temtamy Syndrome |
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Pes planus, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, T... |
OMIM:218340 |
Mal De Meleda |
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Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Dermochondrocorneal Dystrophy |
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Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca... |
OMIM:221800 |
Vertical Talus, Congenital |
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Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Rubinstein-Taybi Syndrome |
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Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
Deafness, Conductive, With Malformed External Ear |
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Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Sti... |
OMIM:236500 |
Pseudohypoparathyroidism, Type Ic |
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Delayed eruption of teeth, Short metacarpal, Elevated circulating thyroid-stimulating hormone con... |
OMIM:612462 |
Osteogenesis Imperfecta, Type I |
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Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian bones, Dentinoge... |
OMIM:166200 |
Van Der Woude Syndrome |
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Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
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Short palm, Pes planus, Tapered finger, Carious teeth, Narrow mouth, Micrognathia, Trismus, Elbow... |
OMIM:272430 |
Melnick-Needles Syndrome |
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Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Hearing impairmen... |
ORPHA:2484 |
Fibrochondrogenesis 2 |
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Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh... |
OMIM:614524 |
Acrofrontofacionasal Dysostosis |
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Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... |
ORPHA:1784 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Mandibular prognathia, Thin upper lip vermilion, Decreased testicular size, Micrognathia, Hypopla... |
OMIM:300534 |
Rhyns Syndrome |
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Radial bowing, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, S... |
OMIM:602152 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M... |
ORPHA:1071 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
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Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Congenital Disorder Of Glycosylation, Type Iic |
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Short foot, Periodontitis, Brachydactyly |
OMIM:266265 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, High palate, Malar flatteni... |
ORPHA:2180 |
Chromosome 16Q22 Deletion Syndrome |
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Prominent metopic ridge, Broad hallux, Posteriorly rotated ears, Micrognathia, Wide anterior font... |
OMIM:614541 |
Pseudohypoparathyroidism, Type Ib |
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Short metacarpal, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Brach... |
OMIM:603233 |
Alg6-Cdg |
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Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu... |
ORPHA:79320 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Hypoplasti... |
OMIM:614813 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Mandibular prognathia, Pes planus, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Melkersson-Rosenthal Syndrome |
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Furrowed tongue |
OMIM:155900 |
Poland Syndrome |
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Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Myhre Syndrome |
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Short palm, Mandibular prognathia, Craniofacial hyperostosis, Hearing impairment, Hypoplasia of t... |
ORPHA:2588 |
Dyggve-Melchior-Clausen Disease |
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Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... |
ORPHA:239 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
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Clinodactyly of the 5th finger, Umbilical hernia, Short foot, Oligodactyly |
OMIM:619758 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
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Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Kury-Isidor Syndrome |
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Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H... |
OMIM:619762 |
Osteogenesis Imperfecta, Type V |
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Pes planus, Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Worm... |
OMIM:610967 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
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Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger |
OMIM:242500 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f... |
ORPHA:488642 |
Bruck Syndrome 2 |
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Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Platyspondyly, Talipes equin... |
OMIM:609220 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, High palate, Low-set ears, L... |
OMIM:616549 |
Waardenburg Syndrome, Type 3 |
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Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Cutaneou... |
OMIM:148820 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
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Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Carey-Fineman-Ziter Syndrome |
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Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major muscle, Pierre-Ro... |
ORPHA:1358 |
Cohen Syndrome |
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Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
Coffin-Lowry Syndrome |
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Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... |
ORPHA:192 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Delayed vertebral ossification, Metaphyseal dysplasia, Proximal placement of thumb, Flexion contr... |
OMIM:613330 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormal epiphysis morphology, Abno... |
ORPHA:970 |
Temple Syndrome |
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Posteriorly rotated ears, Micrognathia, Small hand, Cleft palate, Short foot, High palate, Short ... |
OMIM:616222 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
Stuve-Wiedemann Syndrome 2 |
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Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona... |
OMIM:619751 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesom... |
OMIM:612813 |
Cone-Rod Dystrophy 16 |
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Cataract, Postaxial polydactyly |
OMIM:614500 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
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Abnormal salivary gland morphology |
ORPHA:3225 |
Campomelic Dysplasia |
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11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Bowing of the legs, Short neck, Hyperlordosis, Metaphyseal widening, Delayed epiphyseal ossificat... |
ORPHA:93352 |
Bardet-Biedl Syndrome 22 |
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Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Fountain Syndrome |
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Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Abnormal ... |
ORPHA:3219 |
Cleidocranial Dysplasia 1 |
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Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
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2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, 2-3 toe... |
OMIM:613573 |
Orofaciodigital Syndrome V |
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Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... |
OMIM:174300 |
Alg9-Cdg |
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Omphalocele, Torticollis, Ulnar deviation of the hand, Lipodystrophy, Rhizomelia, Hypoplasia of t... |
ORPHA:79328 |
Ring Dermoid Of Cornea |
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Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Gorlin Syndrome |
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Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pi... |
ORPHA:377 |
Kid Syndrome |
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Lip fissure, Angular cheilitis, Abnormality of the dentition, Equinus calcaneus, Coxa valga, Prel... |
ORPHA:477 |
Endocrine-Cerebroosteodysplasia |
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Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Preaxial polydacty... |
OMIM:612651 |
Contractural Arachnodactyly, Congenital |
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Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit... |
OMIM:121050 |
Zimmermann-Laband Syndrome |
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Hallux valgus, Pes planus, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, G... |
ORPHA:3473 |
Laurence-Moon Syndrome |
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Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Hand polydactyly, ... |
ORPHA:2377 |
Autosomal Dominant Omodysplasia |
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Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... |
ORPHA:93328 |
Weaver Syndrome |
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Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... |
OMIM:277590 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
3P25.3 Microdeletion Syndrome |
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Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... |
ORPHA:435638 |
Woolly Hair Nevus |
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Precocious puberty, Widely-spaced incisors, Brachydactyly |
ORPHA:79414 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Skeletal muscle atrophy, Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Con... |
OMIM:616716 |
Nephronophthisis 15 |
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Polydactyly |
OMIM:614845 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
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Syndactyly, Clinodactyly, Scoliosis |
OMIM:619091 |
Three M Syndrome 3 |
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Slender long bone, Hip dysplasia, Thick vermilion border, Long philtrum, Clinodactyly of the 5th ... |
OMIM:614205 |
Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, High palate, Talipes equinovarus, Short p... |
ORPHA:3306 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bifid uvula, Ge... |
OMIM:615777 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Neonatal death, Brachydactyly |
OMIM:610498 |
Burn-Mckeown Syndrome |
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Mandibular prognathia, Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Protrudin... |
OMIM:608572 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Non-Distal Duplication 13Q |
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Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Aplasia/H... |
ORPHA:1702 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Carious teeth, Downturned corners of mo... |
ORPHA:1110 |
Cleft Velum |
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Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Silver-Russell Syndrome |
|
Sandal gap, Dental crowding, Micrognathia, Precocious puberty, Cryptorchidism, Lower limb asymmet... |
ORPHA:813 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Bilateral talipes equinovarus |
OMIM:616486 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, High, narrow palate, Ileus, High palate, Short philtrum, Long philtrum, Retrognathi... |
OMIM:620156 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C... |
ORPHA:1770 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... |
OMIM:619736 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalange... |
OMIM:600705 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... |
ORPHA:2912 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Polycystic ovaries, ... |
ORPHA:3085 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Tented upper lip vermilion, Overlapping toe, Craniosyn... |
OMIM:616723 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the fibula, Protru... |
ORPHA:2256 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Micromelia, Pancreatic cysts, Cleft palate, Clubbing ... |
ORPHA:1318 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl... |
ORPHA:508488 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Delayed closure of the anterior fontanelle, Micrognathia,... |
OMIM:224300 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li... |
OMIM:615849 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Femoral bowing, Anotia, Micr... |
OMIM:616462 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislocation, High ... |
ORPHA:536532 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Thoracic hemivertebrae,... |
ORPHA:1445 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Abnormality of the knee, Narrow small joints... |
ORPHA:1159 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Al-Raqad Syndrome |
|
Narrow mouth, Thin upper lip vermilion, Sandal gap, Brachydactyly |
OMIM:616459 |
Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the... |
ORPHA:313855 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb amyotrophy, Talipes equinovarus, Limb hypertonia |
ORPHA:401815 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Dental malo... |
OMIM:618727 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal foo... |
ORPHA:85184 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Malar prominence, Cone-shaped epiphysis, Palmoplantar keratoderma, ... |
ORPHA:2824 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Talipes equinovarus, T... |
OMIM:601596 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Congenital hip dislocation, Red hair, Keratoglobus, Abnormal cornea morphology, Decr... |
OMIM:229200 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... |
OMIM:617930 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Cari... |
OMIM:277440 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Sandal gap, Single transverse palmar crease, Dental c... |
OMIM:617061 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary too... |
ORPHA:1787 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Carious teeth, Cryptorchidi... |
ORPHA:96097 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Joubert Syndrome 10 |
|
Hirsutism, Postaxial polydactyly |
OMIM:300804 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis,... |
ORPHA:2671 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Brachydactyly, Rhizomelia, Abnormality of the dentition, Flat capital femo... |
OMIM:271510 |
Septooptic Dysplasia |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Polydactyly... |
OMIM:182230 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Rin2 Syndrome |
|
Irregular dentition, Pes planus, Hypergonadotropic hypogonadism, Cryptorchidism, Gingival overgro... |
ORPHA:217335 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia... |
ORPHA:531151 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Slender long ... |
ORPHA:561 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Pursed lips, Arachnodactyly, Micrognathia, Narrow mouth, Calcaneovalgus deformity, Adducted thumb... |
ORPHA:562528 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Meta... |
OMIM:263210 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Osteoporosis, Hypoplasia of the musculature, Genu valgum |
ORPHA:231226 |
Masa Syndrome |
|
Pes cavus, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Trisomy 8P |
|
Short fourth metatarsal, Conductive hearing impairment, Clinodactyly of the 5th finger, Bifid uvu... |
ORPHA:264450 |
Rudiger Syndrome |
|
Death in infancy, Single transverse palmar crease, Ovarian cyst, High axial triradius, Short digit |
OMIM:268650 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Broad long bones, Short tubular bones of the hand, Abnormal foot morphology, C... |
OMIM:200610 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Single transverse palmar crease, Persistence of primary teeth... |
OMIM:610253 |
Pontocerebellar Hypoplasia, Type 1B |
|
Abnormal foot morphology, Tongue atrophy, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Microdontia, Promin... |
OMIM:135900 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro... |
ORPHA:96182 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... |
OMIM:212780 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M... |
OMIM:263750 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... |
ORPHA:364577 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Glossoptosis |
OMIM:618356 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Abnormality of the... |
ORPHA:3035 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Tapered finger, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology... |
ORPHA:317 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Short long bone, Oligodon... |
OMIM:619184 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,... |
OMIM:269860 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, ... |
OMIM:619194 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Loeys-Dietz Syndrome 5 |
|
Pes planus, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic infiltrat... |
OMIM:615582 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Non-midline cleft lip, Cleft palate, Do... |
ORPHA:2075 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Tibial bowing, Slender long bone, Worm... |
OMIM:259420 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert... |
ORPHA:93315 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Neonat... |
OMIM:259775 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, 4-5 fi... |
OMIM:257850 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,... |
ORPHA:870 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Orof... |
OMIM:615630 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Distal Deletion 10P |
|
Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the elbow, Cleft palate, Poly... |
ORPHA:1580 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox... |
OMIM:618150 |
Distal Monosomy 7Q36 |
|
Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Symphalangism affecting the ph... |
ORPHA:1636 |
Trisomy 9P |
|
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Impacted toot... |
ORPHA:236 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal pelvi... |
ORPHA:3079 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Short long bone, Ta... |
OMIM:224410 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... |
ORPHA:95699 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, Camptodactyl... |
OMIM:259600 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Cleft palate, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Cryptorchidism, Cleft palate, Neonatal death, Retrognathia |
OMIM:615524 |
Harrod Syndrome |
|
Arachnodactyly, Dental malocclusion, Protruding ear, Abnormal shoulder morphology, Abnormal pelvi... |
ORPHA:2115 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Genu recurvatum, Flexion contracture, Talipes equinovarus, Acetabular dysplasia |
OMIM:614066 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Nail dystrophy |
OMIM:226700 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Pes planus, Toe syndactyly, Tented upper lip vermilion, Delayed eruption o... |
ORPHA:819 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clin... |
OMIM:619721 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Osteo... |
OMIM:259450 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor... |
ORPHA:2363 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Polydactyly, Upper li... |
ORPHA:231140 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... |
ORPHA:392 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... |
ORPHA:1488 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho... |
ORPHA:3194 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin... |
ORPHA:50945 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Posteriorly rotated ears, Micrognat... |
OMIM:200980 |
Alopecia-Intellectual Disability Syndrome |
|
Split hand, Hypergonadotropic hypogonadism, Brachydactyly |
ORPHA:2850 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the endocrine system, Abnormal pelvis... |
ORPHA:166119 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Annular p... |
OMIM:618162 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Short palm |
ORPHA:85172 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Gorham-Stout Disease |
|
Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteolysis involving... |
ORPHA:73 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower limb... |
ORPHA:404440 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ... |
OMIM:602557 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynost... |
ORPHA:83 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... |
OMIM:113650 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, Pes planus, Posteriorly rotated ears, Protruding tongue, Prominent crus of... |
OMIM:617804 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cleft lip, Cryptorchidism, Cleft palate, Camptodactyly, Clinodactyly of the 5th fin... |
OMIM:619123 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera... |
ORPHA:2890 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Aganglionic megacolon, Tapered finger, Micrognathia, Abnormal antihelix morphology, L... |
ORPHA:1438 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Synophrys, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Abnormal foot morphology, Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, C... |
OMIM:618198 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Hypoplasia of the ... |
OMIM:272460 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Abnormal epiphysis morphology, Long phil... |
ORPHA:90653 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp... |
OMIM:264700 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Clinodactyly, Decreased testicular size |
OMIM:614838 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ... |
ORPHA:521445 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia |
OMIM:602196 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, High palate, Clinodactyly of the 5th finger, Cubitus valgus, Retrognathia, Bra... |
OMIM:620237 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Small hand, Short foot, Wide mouth, Brachydactyly |
OMIM:617450 |
3C Syndrome |
|
Finger syndactyly, Death in infancy, Intestinal malrotation, Adrenal hypoplasia, Micrognathia, Mi... |
ORPHA:7 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, 2-3 toe syndactyly, Narrow p... |
ORPHA:313892 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Metatarsus adductus, High, narrow palate, Cryptorchidis... |
OMIM:612513 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia... |
ORPHA:75389 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Aplastic clavicle, Missing ribs, Carious teeth, Elbow dislocation, Abnorma... |
ORPHA:2769 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Osteoporosis, Hypoplasia of the musculature, Genu valgum |
ORPHA:231214 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segm... |
ORPHA:1323 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Toe syndactyly, Single transverse palmar crease, Proximal placement of ... |
OMIM:610759 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Wormian bones, Femoral bowing present at birth, straightening with time, Dentinogen... |
OMIM:166220 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Short Syndrome |
|
Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygo... |
ORPHA:3163 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Narrow pelvis bone, Short ribs, Hypoplastic pelvis, Hypoplastic iliac wing |
OMIM:187760 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab... |
ORPHA:3130 |
Xylt1-Cdg |
|
Joint dislocation, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thic... |
ORPHA:370930 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Pes planus, Macrodontia, Posteriorly rotated ears, Proximal placement of t... |
OMIM:212066 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... |
ORPHA:177907 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... |
OMIM:612863 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cl... |
OMIM:616894 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Selective tooth agenesis, Micrognathia,... |
ORPHA:2959 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... |
ORPHA:85438 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Micrognathia, Malar prominence, Fused cervical vertebrae, Low-set ear... |
ORPHA:2522 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Talipes equinovarus, Hypomimic face |
OMIM:260300 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Autosomal Recessive Spastic Paraplegia Type 59 |
|
Talipes equinovarus, Limb hypertonia |
ORPHA:401795 |
Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage |
ORPHA:3305 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Inguinal hernia, Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital f... |
ORPHA:1154 |
Keutel Syndrome |
|
Recurrent sinusitis, Calcification of cartilage, Recurrent otitis media, Short distal phalanx of ... |
ORPHA:85202 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Patellar dislocat... |
OMIM:603736 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Downturned corners of mouth, Small earlobe, Genu varum, Long toe, Large hands, Low-... |
OMIM:264090 |
Microcephaly-Capillary Malformation Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Brachydactyly |
OMIM:614261 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Aplasia/Hypoplasia of the d... |
ORPHA:1234 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Single transverse palmar crease, C... |
OMIM:617425 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity |
OMIM:162370 |
Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the w... |
ORPHA:198 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os... |
OMIM:618395 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov... |
OMIM:616738 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Pes planus, Dental crowding, Micrognathia, Tapered finger, High, narrow... |
OMIM:619312 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Hyporeflexia of lower limbs, Peroneal muscle w... |
ORPHA:90658 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Thin vermilion... |
OMIM:614800 |
Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Abnormal enchondral ossification, Short foot, Talipes equinovarus, Um... |
ORPHA:93298 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Pancreatic fibrosis, Pancreatic cysts, Early ossificati... |
OMIM:208500 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Micrognathia, High palate, Broad thumb, Clinodactyly, Macrotia, Long hallux, Hyper... |
OMIM:620194 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Malar flattening, Short pha... |
OMIM:600430 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Cle... |
OMIM:618469 |
Ane Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Ulnar d... |
ORPHA:157954 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long... |
ORPHA:169186 |
Pontocerebellar Hypoplasia, Type 1A |
|
Spinal muscular atrophy, Abnormal foot morphology, Congenital contracture, Distal amyotrophy, Tal... |
OMIM:607596 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Spatulate thumbs, Cleft upper lip, Elbow dislocation, Cryptor... |
OMIM:150250 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph... |
ORPHA:1824 |
Opsismodysplasia |
|
Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm... |
ORPHA:2746 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, H... |
ORPHA:2457 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Accessory oral frenulum, Micromelia, ... |
OMIM:211750 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Downturned corners of mouth, Slender long ... |
ORPHA:2774 |
Lethal Congenital Contracture Syndrome 10 |
|
Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High palate, Talipes ... |
OMIM:617022 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:188025 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Slender long bone, Ankyloglossia, Brachydactyly |
OMIM:602361 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, Single transver... |
OMIM:618291 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu... |
OMIM:253250 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Hyperextensibi... |
OMIM:601812 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:604292 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Cle... |
OMIM:217980 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Scoliosis |
OMIM:615284 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High... |
OMIM:616730 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Tapered finger, Submucous cleft hard palate, ... |
OMIM:619680 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hi... |
ORPHA:96148 |
Native American Myopathy |
|
Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala... |
ORPHA:168572 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Coxa vara, Narrow pelvis bone, Tooth agenesis, Abnormal epiphysis... |
ORPHA:2637 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr... |
OMIM:254090 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, High palate, Short philtrum, 2-5 toe syndactyly, Median cleft pal... |
OMIM:617746 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Short philtrum, Increased serum testosterone level, Cubitus valgus, Abnormality of ... |
ORPHA:247768 |
Wrinkly Skin Syndrome |
|
Osteopenia, Pes planus, Scapular winging, Congenital hip dislocation, Inguinal hernia, Hypoplasia... |
OMIM:278250 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, Cryptorchidism, 2... |
OMIM:617164 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Abnormal earlobe m... |
ORPHA:808 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Talipes equinovarus |
OMIM:616756 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Iris coloboma |
ORPHA:2921 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Cryptorchi... |
ORPHA:457193 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... |
OMIM:143095 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Arachnodactyly, Conical tooth, Micrognathia, Posteriorly... |
OMIM:612313 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Pes planus, Micrognathia, Cryptorchidism, Hypoplast... |
OMIM:300712 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie... |
OMIM:215140 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormality of the elbow... |
ORPHA:3015 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Wormian bones, Dental crowding, Posteriorly r... |
ORPHA:2789 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Finger ... |
ORPHA:93932 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Talipes equinovarus, Distal lower limb muscle weakness, Generalized limb muscle atrophy |
ORPHA:466794 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Widely spa... |
OMIM:619479 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Micrognathia, Macr... |
OMIM:619775 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the elbow, Slender long bone, Abn... |
ORPHA:1486 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature... |
ORPHA:899 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Pierre-Robin sequence, Small hand, Cleft palate, Anteriorly placed ... |
OMIM:619980 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint... |
OMIM:618914 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Vertebral segmentation defect, Split hand, Foot polydactyly |
ORPHA:3004 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... |
ORPHA:2636 |
Orthostatic Hypotension 1 |
|
High palate, Reduced circulating prolactin concentration, Brachydactyly |
OMIM:223360 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Intrinsic hand muscle atrophy, Knee flexion contracture, Talipes equinovar... |
OMIM:615490 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Micrognathia, Wide anterior f... |
OMIM:619135 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Hypoplasia of the odontoid process, Pierre-Robin sequence, Hip dislocatio... |
OMIM:183900 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Pe... |
OMIM:275900 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi... |
ORPHA:79444 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus a... |
ORPHA:35107 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Anotia, H... |
OMIM:613717 |
Osteogenesis Imperfecta, Type Xiv |
|
Scoliosis, Femoral bowing |
OMIM:615066 |
Tarp Syndrome |
|
Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, ... |
ORPHA:2886 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segme... |
ORPHA:1005 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis, Sparse... |
OMIM:302960 |
Perrault Syndrome 1 |
|
Pes cavus, Talipes equinovarus, Osteoporosis |
OMIM:233400 |
Diamond-Blackfan Anemia 6 |
|
Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Retrognathia, Bifi... |
OMIM:612561 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Postnatal growth retardation, Talipes equinovarus, Tapered finger |
OMIM:617219 |
Kinsship Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Pes planus, Death in infancy, Coxa valga, Microg... |
OMIM:619297 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor... |
ORPHA:2655 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Facial hypotonia, Arachnodactyly, Atrophic scars, Bilateral talipes equinovarus,... |
OMIM:615539 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Broad distal phalanx of finger, Long philtrum, Hypothyroidism, Broad th... |
OMIM:617763 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplas... |
ORPHA:1512 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Pyloric... |
ORPHA:1001 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the wrists, Dela... |
OMIM:600081 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d... |
ORPHA:453510 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Sagittal craniosynostosis, Thick lower lip vermilion, Downturned corner... |
OMIM:618027 |
Trisomy 12P |
|
Supernumerary nipple, Micrognathia, Cleft palate, Downturned corners of mouth, Large hands, Evert... |
ORPHA:1699 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Cleft lip, Partial ... |
OMIM:618348 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:129900 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:601390 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Sensorineural hearing impairment, Orofacial cleft, Polydactyly |
ORPHA:17 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited elbow movement, ... |
OMIM:300280 |
Macs Syndrome |
|
Irregular dentition, Pes planus, Hypergonadotropic hypogonadism, Single transverse palmar crease,... |
OMIM:613075 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal cupping, Metaphyseal chondro... |
OMIM:156400 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Narrow mouth, Cryptorchidism, Cleft... |
OMIM:601353 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly |
ORPHA:85279 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognath... |
OMIM:220210 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Dental crowding, Deep philtrum, Macroglossia, Long philtrum, High palate, Talipes equinovarus, Th... |
ORPHA:397709 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Aase-Smith Syndrome I |
|
Death in infancy, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Short dis... |
ORPHA:86822 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Esophageal atresia, Deep ph... |
OMIM:610536 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Chitayat Syndrome |
|
Hallux valgus, Thick vermilion border, Brachydactyly |
OMIM:617180 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A... |
OMIM:618021 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... |
OMIM:615546 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Absent cupid's bow, Abnormality o... |
ORPHA:513456 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... |
OMIM:231070 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Joint contracture, Talipes equinovarus |
OMIM:617481 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat... |
OMIM:618874 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... |
ORPHA:3078 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormal metacar... |
ORPHA:3224 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... |
ORPHA:139471 |
Hartsfield Syndrome |
|
Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve... |
OMIM:134780 |
Hypoglossia With Situs Inversus |
|
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia |
OMIM:612776 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Pes planus, Facial palsy, Distal amyotrophy, Areflexia of lower limbs, Talipes equinovarus, Hypor... |
OMIM:256850 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Scoliosis, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Tibial bowing, Abnormal pelvic girdle bone ... |
OMIM:166210 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Hernia, Absent palmar cr... |
ORPHA:2053 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, Abnormal diaphysis morph... |
ORPHA:2021 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Micrognathia, Cryptorchidism... |
ORPHA:2083 |
Trisomy 20P |
|
Finger syndactyly, Macroorchidism, Camptodactyly of finger, Talipes, Micrognathia, Abnormality of... |
ORPHA:261318 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact... |
OMIM:101400 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... |
ORPHA:3107 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Cryptorchidism, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty... |
ORPHA:397590 |
Kabuki Syndrome 2 |
|
Natal tooth, Hearing impairment, Micrognathia, Lower lip pit, Cupped ear, Dental malocclusion, Hi... |
OMIM:300867 |
Brachyolmia Type 3 |
|
Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ... |
OMIM:113500 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Pes planus, Inguinal hernia, Single transverse palmar crease, Talipes equinovarus, Umbilical hern... |
OMIM:613544 |
Agnathia-Otocephaly Complex |
|
Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Low-set ears, Narrow mouth, ... |
OMIM:202650 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Femoral bowing... |
OMIM:614856 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate... |
OMIM:271640 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death |
OMIM:245650 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Everted lower lip vermilion,... |
ORPHA:324410 |
Bruck Syndrome |
|
Arthrogryposis multiplex congenita, Bowing of the long bones, Osteoporosis, Talipes equinovarus |
ORPHA:2771 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Femoral bowing, Long eyelashes, Biconcave vertebral bodies, Wormian bon... |
OMIM:617952 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thin upper lip vermilion, Hip contracture, Talipes, Delayed cranial suture closure, Micrognathia,... |
OMIM:210730 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl... |
OMIM:250410 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Pes planus, Down-sloping shoulders, Abnormal de... |
ORPHA:96263 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Ect... |
OMIM:147950 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Diaphanospondylodysostosis |
|
Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Cleft palate, Missing ribs |
ORPHA:66637 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Wide mouth, Long philtrum, Short distal phalan... |
ORPHA:1292 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Talipes equinovarus |
OMIM:616719 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios... |
OMIM:614099 |
17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Otosclerosis, Micrognathia, Abnormality of the wrist, Upper limb underg... |
ORPHA:529962 |
Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the ear, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum... |
ORPHA:3455 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
Toluene Embryopathy |
|
Micrognathia, Tapered finger, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic ... |
ORPHA:1920 |
Distal Deletion 6P |
|
Abnormality of the dentition, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short f... |
ORPHA:96125 |
Dystonia, Dopa-Responsive |
|
Torticollis, Pes cavus, Talipes equinovarus |
OMIM:128230 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia,... |
OMIM:616362 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Abnormal pelvic girdle bone morphology, Mandibul... |
OMIM:166600 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Cataract, Broad hallux phalanx, Toe syndactyly, Short ... |
ORPHA:959 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2473 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Joint swelling, Gingival bleeding... |
ORPHA:169805 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon... |
OMIM:269500 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... |
OMIM:608257 |
Hamamy Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tapered finger, ... |
OMIM:611174 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Micrognathia, Prominent antitragus, 2-3 fing... |
ORPHA:2437 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, High palate, Small pituitary gland, Del... |
OMIM:612702 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent ... |
OMIM:108145 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Open bite, Deep philtrum, Short foot, Wi... |
ORPHA:1974 |
Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Joint dislocation, Pes planus, Sandal gap, Recurrent shoulder dislocation, Dental ... |
ORPHA:230851 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
Momo Syndrome |
|
Delayed eruption of teeth, Abnormality of the thyroid gland, Thick lower lip vermilion, Dental ma... |
ORPHA:2563 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Uplifted earlobe, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, ... |
OMIM:616449 |
Cystathioninuria |
|
Talipes equinovarus |
ORPHA:212 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Arachnodactyly, Rhizo... |
ORPHA:3379 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Anterior pituitary hy... |
OMIM:151050 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus |
OMIM:209770 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphragm, Distal amyotrophy... |
OMIM:604320 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi... |
ORPHA:3472 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, 1-4 toe s... |
OMIM:617201 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Decreased muscle mass, Tapered finger, Long fingers, Talipes equinovarus, Prominent fingertip pad... |
OMIM:617773 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l... |
ORPHA:289157 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ... |
ORPHA:1765 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Talipe... |
OMIM:615789 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos... |
OMIM:616580 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, P... |
OMIM:301091 |
Gapo Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Abnormal pelvic girdle bone morph... |
ORPHA:2067 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Mandibular prognath... |
ORPHA:1299 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Abnormality of the e... |
ORPHA:166035 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Talipes equinovarus |
OMIM:616171 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Palmo... |
OMIM:615108 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Hyperparathyroidism, Premature loss of primary teeth, Abnormality of the denti... |
ORPHA:93160 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Pes cavus, Dental crowding, Broad hallux, Sandal gap, Hearing impairmen... |
OMIM:616078 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence... |
ORPHA:97360 |
Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Bile duct proliferation, Po... |
OMIM:607361 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short ... |
OMIM:169400 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip |
ORPHA:2476 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr... |
ORPHA:1968 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Dow... |
OMIM:109400 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly |
OMIM:602501 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
Martsolf Syndrome 1 |
|
Short metacarpal, Cataract, Thoracic scoliosis, Lumbar hyperlordosis, Metatarsus adductus, Slende... |
OMIM:212720 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Widow's peak, Hand polydactyly, Broad thumb |
OMIM:239710 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral coxa valga, Clin... |
OMIM:611182 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Glossoptosis, Advance... |
ORPHA:828 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Finger syndac... |
OMIM:308050 |
Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
Marshall-Smith Syndrome |
|
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Microdont... |
OMIM:218330 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Increased serum ... |
ORPHA:96181 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis, Femoral bowing |
OMIM:126550 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Po... |
OMIM:614175 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Tris... |
ORPHA:3206 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate... |
ORPHA:314621 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short proxim... |
ORPHA:261323 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Brachydactyly, Hypothyroidism, Short distal phalanx of finger |
ORPHA:1563 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Micrognathia, Missing ribs, Tracheoesophageal fistula, Gingival overgrow... |
ORPHA:1834 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, High palate, Pes valgus, Brachydactyly |
OMIM:619995 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Pes planus, Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Finger ... |
OMIM:244200 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Dental crowding, Aganglionic megacolon,... |
OMIM:209900 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Dental crowding, Posteriorly rotated ears, Micrognathia, Abnorma... |
OMIM:130720 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Micrognathia, Conductive hearing impairment, Cleft palate, Glossoptosis, Atresi... |
ORPHA:1393 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Genu recurvatum, Micrognathia, Bifid uvula, Dislocated radial head, Long toe, ... |
OMIM:130070 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Infantile Systemic Hyalinosis |
|
Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Gingival overgrow... |
ORPHA:2176 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Hyperthyroidi... |
ORPHA:249 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Increased carrying angle, Brachydactyly |
OMIM:247410 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Short neck |
OMIM:613885 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal fibula morphology, Abnormality of the adrenal glands, Abnormal par... |
ORPHA:252164 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... |
ORPHA:861 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Calf muscle hypertrophy, Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy |
OMIM:158900 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ... |
OMIM:610829 |
Microhydranencephaly |
|
Talipes equinovarus, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy |
OMIM:605013 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly |
OMIM:264180 |
Caudal Regression Syndrome |
|
Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, ... |
ORPHA:3027 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis... |
ORPHA:1300 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabu... |
OMIM:610442 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Wide anterior fontan... |
OMIM:225410 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Pes planus, Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Spa... |
OMIM:250250 |
Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
Mehmo Syndrome |
|
Talipes equinovarus, Tapered finger |
ORPHA:85282 |
Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Flexion contracture, Short finger |
OMIM:312150 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Crumpled long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Hypoplasia of the iris, Trapezoidal vertebral body, Short phalanx o... |
OMIM:600092 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S... |
ORPHA:457279 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:619465 |
Lissencephaly 8 |
|
Skeletal muscle atrophy, Talipes equinovarus |
OMIM:617255 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Tapered finger, Cli... |
OMIM:301040 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short umbilical cord, Tapered finger |
OMIM:618367 |
Congenital Disorder Of Glycosylation, Type Id |
|
Long fingers, Flexion contracture, Talipes equinovarus, Arthrogryposis multiplex congenita, Clino... |
OMIM:601110 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of h... |
OMIM:619122 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Increased pineal volume, Enlarged ovaries, Dental crowding, Abnormality of... |
ORPHA:769 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ... |
OMIM:609465 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Palmo... |
OMIM:615109 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi... |
ORPHA:79443 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Micrognathia, Antecubital pterygium, Low-set ears, Bifid uvula |
OMIM:616258 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang... |
ORPHA:1692 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, ... |
ORPHA:1328 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Decreased muscle mass, Widened atrophic scar, Wrist drop, Muscle fiber atrophy, Osteo... |
ORPHA:1900 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Developmental And Epileptic Encephalopathy 91 |
|
Talipes equinovarus, Single transverse palmar crease |
OMIM:617711 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia, Cleft upper l... |
OMIM:304110 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Micrognathia, Sensorineural hearing impairment, Sub... |
OMIM:618971 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Talipes, Metatarsus adductus, R... |
ORPHA:2461 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, High, narrow palate, High palate, Death in childhood, Ulnar deviation of the hand o... |
OMIM:214100 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyl... |
ORPHA:672 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cryptorchidism, Deep phi... |
OMIM:618143 |
Ring Chromosome 22 Syndrome |
|
Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Macrotia |
ORPHA:1446 |
Frank-Ter Haar Syndrome |
|
Micrognathia, Protruding ear, High palate, Short palm, Short phalanx of finger, Simple ear, Wide ... |
OMIM:249420 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Lower limb asymmetry, Scarring alopecia of scalp, Flexion contract... |
ORPHA:35173 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat... |
ORPHA:397715 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Talipes equinovalgus, Bilateral talipes equinovarus |
OMIM:619735 |
X-Linked Intellectual Disability, Hedera Type |
|
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore... |
ORPHA:93952 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... |
OMIM:207410 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Epiphyseal stip... |
OMIM:118650 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, ... |
ORPHA:398079 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Low-set, posteriorly rotated... |
ORPHA:175 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Micrognathia, Metaphyseal sclerosis, Small hand, Short foot, Macrotia |
OMIM:616051 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence... |
ORPHA:955 |
Nance-Horan Syndrome |
|
Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Short phalanx of... |
OMIM:302350 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowing, Femoral bowing, S... |
OMIM:610915 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia, Talipes equinovarus |
OMIM:617662 |
Darier-White Disease |
|
Palmar pits, Plantar pits, Enlargement of parotid gland |
OMIM:124200 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Bilateral ta... |
OMIM:618142 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Pes planus, Arachnodactyly, Sandal gap, Flexion contracture, Upper limb muscle weakness, Talipes ... |
OMIM:617146 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder flexion contracture, Ro... |
OMIM:193700 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Distal Deletion 9P |
|
High, narrow palate, Abnormality of the dentition, Cleft palate, Brachydactyly |
ORPHA:1642 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Skeletal muscle atrophy, Talipes equinovarus |
OMIM:617695 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Thick vermilion... |
OMIM:617809 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr... |
OMIM:139210 |
Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High palate, Clinodactyly of t... |
OMIM:607932 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hearing abnormality, Protruding ear, Glossoptosis, Clinodactyl... |
ORPHA:2031 |
You-Hoover-Fong Syndrome |
|
Cleft palate, Clinodactyly, Accessory oral frenulum, Brachydactyly |
OMIM:616954 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate, L... |
OMIM:616038 |
Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Flexion contracture, Short finger |
OMIM:253290 |
Triploidy |
|
Finger syndactyly, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midline cleft lip, C... |
ORPHA:3376 |
Microtriplication 11Q24.1 |
|
Metatarsus adductus, Small hand, Genu valgum, Short foot, Talipes equinovarus, Clinodactyly of th... |
ORPHA:289522 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu... |
OMIM:211380 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Pes planus, Overriding aorta, Sandal gap, Abnormal foot morphology, Decreased/absent ankle reflex... |
ORPHA:477817 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the wrists, Dela... |
OMIM:241530 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Hyperthyroidism, Camptodactyl... |
ORPHA:2008 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300554 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, Dystrophic toenail, Symphalangi... |
ORPHA:1439 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Cleft palate, Hypoplastic cervical vertebrae, Downturned cor... |
OMIM:616364 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary... |
ORPHA:363444 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh... |
OMIM:601358 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Deep philtrum, Short metatarsal, Finger clinodactyly, High palate, Sh... |
OMIM:617137 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus |
OMIM:619972 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Hearing impairment, Abnormality of the dentition, Micrognathia, 2-3 toe... |
ORPHA:1596 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad palm, Narrow palate, Broad phalanges of the hand, Tooth malposit... |
OMIM:277600 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tongue, Hypoplasti... |
OMIM:190685 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Acute rhabdomyolysis, Split hand, Talipes equinovarus, Pes cavus |
OMIM:604168 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Pes planus, Micrognathia, Carious teeth, Velopharyngeal in... |
OMIM:223370 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Knee dislocation, Dislocated radial head, Rhizomelia... |
OMIM:245600 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai... |
OMIM:184705 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... |
ORPHA:264200 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Malabsorption, Avascular ... |
ORPHA:581 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Rickets of the lower limbs, Craniosynostosis, Malabsorption, Lower lim... |
ORPHA:289176 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Flexion contracture, Facial hypotonia, Talipes equinovarus |
OMIM:614067 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, A... |
ORPHA:85199 |
Tetraamelia-Multiple Malformations Syndrome |
|
Micrognathia, Missing ribs, Orofacial cleft, Aplasia/Hypoplasia involving the pelvis, Microtia, N... |
ORPHA:3301 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... |
OMIM:615349 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Cataract, Metaphyseal dysplasia, Congenital hip dislocation, Pro... |
OMIM:600373 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Acce... |
ORPHA:434179 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Hernia, Adducted ... |
OMIM:616603 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Short middle ... |
OMIM:180860 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Talipes, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned cor... |
ORPHA:453499 |
Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Micromelia, Brachydactyly |
ORPHA:93274 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Sensorineural hearing impairment, Short foot, Hand polydact... |
ORPHA:250989 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Menke-Hennekam Syndrome 2 |
|
Thin upper lip vermilion, Duodenal ulcer, Overlapping toe, Sandal gap, Micrognathia, Deep philtru... |
OMIM:618333 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyela... |
OMIM:615877 |
Enlarged Parietal Foramina |
|
Craniosynostosis, Cleft lip, Cleft palate, Short clavicles, Broad thumb |
ORPHA:60015 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Prominent calcaneus, Open mouth, Cryptorchidism |
ORPHA:565624 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Swoll... |
OMIM:256520 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Narrow mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachydactyly |
OMIM:608624 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the temporomandibular joint, Single transverse palmar crease, M... |
ORPHA:536471 |
Igg4-Related Submandibular Gland Disease |
|
Abnormality of the thyroid gland, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphol... |
ORPHA:449432 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,... |
ORPHA:974 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Hip dislocation, Congenital foot contractures, Distal ... |
OMIM:314580 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Delayed cranial suture closure, Tapered finger, ... |
OMIM:601088 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaphyses, Decreased res... |
ORPHA:94089 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc... |
OMIM:618975 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ... |
OMIM:201180 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
U-Shaped upper lip vermilion, Death in infancy, Tented upper lip vermilion, Aganglionic megacolon... |
ORPHA:847 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Congenital sensorineu... |
OMIM:157800 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Hypoplasia of the maxilla, Short metatarsal, Broad palm, Elbow flexion contract... |
OMIM:608328 |
Maternal Phenylketonuria |
|
Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, High palate, Long philtrum, ... |
ORPHA:2209 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr... |
OMIM:615948 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Antecubital pterygium |
OMIM:616489 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Bi... |
ORPHA:284417 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Achilles tendon ... |
OMIM:301041 |
Charcot-Marie-Tooth Disease Type 4C |
|
Pes planus, Tongue atrophy, Abnormal foot morphology, Sensorineural hearing impairment, Hammertoe... |
ORPHA:99949 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Abnormal foot morphology, Flexion contracture, 2-3 toe syndactyly, Facial... |
OMIM:618186 |
15q26 overgrowth syndrome |
|
Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper... |
DECIPHER:81 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Posteriorly rotated ears, Abnormality of the dentition, ... |
OMIM:115150 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m... |
OMIM:618106 |
3Mc Syndrome 3 |
|
Sacral dimple, Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosi... |
OMIM:248340 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... |
ORPHA:352540 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid... |
ORPHA:96149 |
Alg8-Cdg |
|
Macroglossia, Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Rahman Syndrome |
|
Talipes equinovarus, Camptodactyly |
OMIM:617537 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Hemivertebrae, Scoliosis, Cubitus valgus |
OMIM:104350 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Micrognathi... |
ORPHA:199 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Absent thumb, Micrognathia, Cleft lip, Short thumb, Partial duplication of thu... |
ORPHA:124 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism... |
ORPHA:2232 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Palmo... |
OMIM:158350 |
Joubert Syndrome 37 |
|
Sparse hair, Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly |
OMIM:619185 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Micrognathia, Sensorineural hearing impairment, Thick vermil... |
OMIM:608779 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, Talipes equinovarus |
OMIM:614872 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Micrognathia, Multiple enchondromatosis, Hammertoe, Adenocarcinoma of t... |
OMIM:620189 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, High palate, Prominent palatine ridges, Microretrognathia, Proportion... |
ORPHA:280633 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central... |
OMIM:309580 |
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 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent... |
OMIM:305450 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Supernumerary nipple, Craniosynostosis, Aplasia/Hypoplasia in... |
ORPHA:1521 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Advanced eruption of teeth, Fi... |
ORPHA:818 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland... |
OMIM:154500 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Conductive hearing impairme... |
ORPHA:444077 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Talipes cavus equinovarus, Distal amyotrophy, Hammertoe, Pes cavus |
OMIM:601455 |
Loeys-Dietz Syndrome 4 |
|
Pes planus, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Ascending tubular ... |
OMIM:614816 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Micrognathia, Protruding... |
OMIM:617062 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Polydactyly |
OMIM:616562 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Duodenal ulcer, Malabsorption, Steatorrhea, Brachydactyly |
ORPHA:3217 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Facial hypotonia, Single transverse palmar crease, Overlapping toe, Tapered finger, Bilateral tal... |
OMIM:617807 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia... |
ORPHA:2604 |
Restrictive Dermopathy 1 |
|
Natal tooth, Rocker bottom foot, Micrognathia, Wide anterior fontanel, Submucous cleft hard palat... |
OMIM:275210 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Talipes equinovaru... |
ORPHA:320375 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Talipes equinovalgus, Post... |
OMIM:301056 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth, L... |
OMIM:230600 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Bil... |
OMIM:619777 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Calcification of cartilage, Chondro... |
ORPHA:1416 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly... |
OMIM:136140 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Postnatal growth retardation, Congenital ... |
OMIM:248700 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Congenital hip dislocation, Hip dislocation, Distal amyotrophy, Talipes equinova... |
OMIM:219150 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Abnormality of the dent... |
ORPHA:739 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Limb joint contracture, ... |
ORPHA:505237 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Ankle clon... |
ORPHA:1435 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Elbow flexion contracture, Small hand, Knee flexion contracture,... |
ORPHA:371364 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypoplasia, Hiatus hernia |
OMIM:601162 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Talipes cavus equinovarus |
ORPHA:139485 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate |
ORPHA:2165 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Adducted thumb, Talipes equinovarus, Limb hypertonia |
OMIM:612936 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Preaxial hand polydactyly, Talipes equinovarus |
OMIM:601389 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Pes cavus, Talipes equinovarus |
ORPHA:101150 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... |
OMIM:305600 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Syndactyly, Rhizomelia,... |
OMIM:613610 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Submucous cleft hard palate, Genu... |
ORPHA:1340 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Narrow... |
OMIM:309590 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Cryptorchidism, Cleft palate, Anteriorly placed anus, High p... |
ORPHA:3338 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly, Cleft palate |
OMIM:611134 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Arachnodactyly, Talipes equinovarus, Camptodactyly |
OMIM:301039 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Delayed closure of the anterior ... |
OMIM:607812 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Congenital hip dislocation, Po... |
ORPHA:2962 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Mixed hearin... |
ORPHA:51608 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Cholelithiasis, Tapered finger, Precocious puberty, Cleft lip, Hip dislocation, Cleft... |
OMIM:301066 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Long... |
OMIM:619472 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, Sensori... |
OMIM:616975 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Recurrent otitis media, Neonat... |
OMIM:616482 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Genu recurvatum, Overlapping toe, Flexion contracture, Elbow flexion contracture... |
OMIM:617301 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification... |
OMIM:300009 |
Tetrasomy 5P |
|
Pericallosal lipoma, Overlapping toe, Short hallux, Postnatal growth retardation, Long fingers, A... |
ORPHA:3309 |
Laryngeal Abductor Paralysis |
|
Talipes equinovarus |
OMIM:150260 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Intrinsic hand muscle atrophy, Tongu... |
OMIM:620285 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe... |
ORPHA:268261 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Low-set ears,... |
ORPHA:1790 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Facial hypotonia, Tapered finger, Hypoplastic aortic arch, Abnormal li... |
ORPHA:261311 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus |
OMIM:618174 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proxi... |
OMIM:300166 |
Solar Urticaria |
|
Vertigo, Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m... |
ORPHA:306542 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Talipes equinovarus |
OMIM:618845 |
Meester-Loeys Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Gingival overgrowth, High palate, Broad distal pha... |
OMIM:300989 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Synophrys, Low anterio... |
OMIM:148050 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Abnormal foot morphology, Cutaneous syndactyly, Talipes equ... |
OMIM:617822 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Overlapping toe, Protruding tongue, C... |
ORPHA:99843 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Cataract, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Shor... |
OMIM:300968 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Pes planus, Inguinal hernia, Genu recurvatum, Arachnodactyly, Craniosynostosis, Metat... |
OMIM:182212 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Posteriorly rotated ears, Rocker bottom foot, Campt... |
OMIM:208150 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Malar flat... |
OMIM:242860 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, 4-5 finger syndactyly, Pre... |
OMIM:164200 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Abn... |
ORPHA:3047 |
Chromosome Xq13 Duplication Syndrome |
|
Pes planus, Metatarsus adductus, Talipes equinovarus, Finger joint hypermobility, Clinodactyly of... |
OMIM:301069 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Pes planus, Tapered finger, Flexion contracture, Talipes equinovarus, Clinodactyly of the 5th fin... |
OMIM:619293 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Finger syndactyly, Cam... |
ORPHA:2215 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia... |
ORPHA:263508 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Craniosynostosis, Cleft upper lip, Cryptorchidism, Gonadotropin def... |
OMIM:615465 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspond... |
OMIM:259770 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Clinodactyly, Talipes equinovarus |
OMIM:616789 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Tapered finger, Abnormality of canine, Short thum... |
ORPHA:477993 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... |
OMIM:261540 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Fused c... |
OMIM:619227 |
Aprosencephaly Syndrome |
|
Anencephaly, Hand oligodactyly |
OMIM:207770 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchidism, Xerostomia, Sma... |
ORPHA:398069 |
Marfan Syndrome |
|
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Dental ... |
OMIM:154700 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion border, Everted low... |
ORPHA:1519 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus |
ORPHA:746 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Finger syndactyly, Abnor... |
ORPHA:2911 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl... |
ORPHA:3426 |
Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia |
ORPHA:140936 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Micrognathia, Abnormality of the elbow, Small hand, Cleft palate, Downturn... |
ORPHA:85276 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Long foot, Talipes equinovarus |
OMIM:617788 |
Al Amyloidosis |
|
Macroglossia, Abnormal salivary gland morphology, Xerostomia |
ORPHA:85443 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Gingival overgrowth, Polydactyly, Low-set ears, Hearing impairment |
ORPHA:93400 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Limited pronation/supination o... |
ORPHA:1724 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Micrognathia, Narrow mouth, Cryptorchidism, H... |
ORPHA:3404 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat... |
OMIM:619103 |
Adnp Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe... |
ORPHA:404448 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short toe, Flexion contracture, Talipes equinovarus |
ORPHA:98791 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equ... |
OMIM:618343 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Dental crowding, Rectal prolapse, Short metatarsal, Pseudohypoparathyroidism, T... |
OMIM:617157 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery... |
OMIM:119500 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Gingival overgrowth, Rhizomelic arm s... |
ORPHA:508542 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen... |
ORPHA:536467 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Tapered finger, Flexion contracture, Talipes equinovarus, Broad thumb |
OMIM:617452 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Talipes, Sensorineural hearing impairment, Submucous cleft hard palate, In... |
OMIM:617660 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, High palate, Simple ear, Short thumb, Ridged cranial sutures, Low-s... |
OMIM:619325 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th... |
OMIM:113620 |
Charge Syndrome |
|
Micrognathia, Hand monodactyly, Hypoplasia of the ulna, Cleft upper lip, Aplasia of the semicircu... |
OMIM:214800 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
Prune Belly Syndrome |
|
Talipes equinovarus, Congenital hip dislocation, Aplasia of the abdominal wall musculature |
OMIM:100100 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Pes planus, Craniosynostosis, Contracture of the proximal interphalange... |
OMIM:618050 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Talipes equinovarus |
OMIM:618917 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate |
ORPHA:250999 |
Sarcoidosis, Susceptibility To, 1 |
|
Clubbing, Enlarged lacrimal glands, Arthritis, Inflammation of the large intestine, Abnormal sali... |
OMIM:181000 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis... |
OMIM:612731 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyly, Low-set ... |
OMIM:249000 |
Holoprosencephaly |
|
Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Diabetes mellitus, Talipes, C... |
ORPHA:2162 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Cleft soft palate, Micrognathia, Microtia, Submucous cleft soft palate, Hearing impairment |
ORPHA:2282 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Atrophic sca... |
OMIM:617821 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Palmo... |
ORPHA:3353 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, ... |
ORPHA:79078 |
Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Camptodactyly |
OMIM:617333 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Pes cavus, Talipes equinovarus, Talipes valgus |
OMIM:614961 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow mouth, Mandibular aplasia, Microglossia, Narrow interna... |
ORPHA:990 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Pes planus, Genu recurvatum, Tapered finger, Unilateral ... |
OMIM:619539 |
Melioidosis |
|
Foot osteomyelitis, Osteoarthritis, Abnormal parotid gland morphology, Septic arthritis, Parotitis |
ORPHA:31202 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Gen... |
OMIM:616268 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Esophageal varix, Brachydactyly |
OMIM:616028 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hearing impairme... |
ORPHA:217085 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal thumb morphology, Metatarsus adductus, Macrotia, Sensorineural hearing impairment, Spina... |
ORPHA:500095 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contrac... |
OMIM:619036 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum |
OMIM:619321 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Pes planus, Aortic rupture, Myopathy, Atrop... |
OMIM:614557 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Scoliosis, Clinodac... |
OMIM:619269 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, ... |
ORPHA:2044 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... |
OMIM:608022 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Bilateral talipes equinovarus |
OMIM:616521 |
Choanal Atresia |
|
Polydactyly, Craniosynostosis |
ORPHA:137914 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hearing impairme... |
ORPHA:217093 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p... |
OMIM:617140 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Ta... |
ORPHA:564 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis... |
ORPHA:449563 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Facial palsy, Limited wrist e... |
ORPHA:98915 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Cleft ... |
ORPHA:1335 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi... |
ORPHA:3241 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Thic... |
OMIM:607872 |
Mend Syndrome |
|
Sacral dimple, Cataract, Broad hallux, Overlapping toe, Long fingers, Kyphosis, 2-3 toe syndactyl... |
OMIM:300960 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, P... |
ORPHA:101085 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Mixed hearing impairment, Broad hallux, Mi... |
OMIM:620186 |
Chops Syndrome |
|
High, narrow palate, Cryptorchidism, Downturned corners of mouth, Long philtrum, Cervical C2/C3 v... |
OMIM:616368 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m... |
OMIM:243605 |
Noonan Syndrome |
|
Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Radioulna... |
ORPHA:648 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact... |
OMIM:270400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Long palm, Single transverse palm... |
OMIM:309583 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowd... |
ORPHA:2052 |
Cinca Syndrome |
|
Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd... |
ORPHA:1451 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Adrenal hypoplasia, Cryptorch... |
ORPHA:2166 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p... |
OMIM:612474 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... |
OMIM:613406 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Astigmatism, Preaxial foot... |
OMIM:619471 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 ... |
OMIM:620029 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth,... |
OMIM:300967 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Jacobsen Syndrome |
|
Micrognathia, Missing ribs, Pyloric stenosis, Cryptorchidism, Annular pancreas, Clinodactyly of t... |
OMIM:147791 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Goit... |
ORPHA:201 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Decreased muscle mass, Flexion contracture, Facial hypotonia, Talipes equinovarus |
OMIM:613744 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum |
ORPHA:96129 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Aortopulmonary collateral arteries, 2-3 toe syndactyly, Aortopulmonary window,... |
OMIM:620025 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,... |
ORPHA:536545 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Ovarian neoplasm |
ORPHA:2221 |
Icf Syndrome |
|
Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears |
ORPHA:2268 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar ... |
ORPHA:252183 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Malabsorption, Sensorineural hearing impairment, Glossoptosis, Arthritis, Chronic otit... |
ORPHA:47 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Micromelia, Cleft upper lip, Micrognathia, Esophageal atresia, Preaxial hand polydact... |
ORPHA:93271 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Rocker bottom foot, Flexion contracture, Elbow flexion contracture, Hip dislocat... |
OMIM:618947 |
Joubert Syndrome 1 |
|
Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Low-set ... |
OMIM:213300 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty... |
OMIM:619879 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Toe syndactyly, Rhizomelia, Exaggerated cupid's bow... |
ORPHA:709 |
Mucopolysaccharidosis, Type Vii |
|
Diastasis recti, Metatarsus adductus, Postnatal growth retardation, Flexion contracture, Genu val... |
OMIM:253220 |
Chromosome 18Q Deletion Syndrome |
|
Pes planus, Inguinal hernia, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placem... |
OMIM:601808 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Prune Belly Syndrome |
|
Talipes equinovarus, Congenital hip dislocation, Aplasia of the abdominal wall musculature |
ORPHA:2970 |
Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, Talipes equinov... |
ORPHA:363528 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ... |
ORPHA:2273 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Exaggerated... |
OMIM:312870 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Small hand, Short foot, Cutaneous finger syndactyly, Talipes e... |
OMIM:235510 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Talipes equinovarus, ... |
OMIM:277380 |
Prune1-Related Neurological Syndrome |
|
Bilateral talipes equinovarus |
ORPHA:544469 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Camptodactyly |
OMIM:608104 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Single transverse palmar crease, Type 2 muscle fiber predominance, Myopa... |
OMIM:619743 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Sensorineural hearing impairment, Ankle clonus, Tongue fasciculations, Death in c... |
OMIM:211530 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Small hand, Cleft palate, Genu valgum, Hy... |
ORPHA:1449 |
Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:616777 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Talipes equinovarus, EM... |
OMIM:618733 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Coxa vara, Wrist flexion contracture, Increased bone mineral... |
ORPHA:800 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Umbilical hernia, Long hallux |
OMIM:619234 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Arteriosclerosis, Talipes equinovarus, Lateral displacement of the femoral head, Hypo... |
OMIM:242900 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Death in childhood |
OMIM:600460 |
Mgat2-Cdg |
|
Dental crowding, Abnormality of the endocrine system, Hypoplastic nipples, Open mouth, Brachydactyly |
ORPHA:79329 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial foot pol... |
OMIM:612284 |
C Syndrome |
|
Joint dislocation, Death in infancy, Toe syndactyly, Talipes, Micromelia, Micrognathia, Accessory... |
ORPHA:1308 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis |
OMIM:217100 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cutaneous syndacty... |
OMIM:619148 |
Charge Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Talipes, Cleft upper lip, Abnormal soft... |
ORPHA:138 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, P... |
ORPHA:522077 |
Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Cataract, Single transverse palmar crease, Deep palmar crease, Polydactyly, Campto... |
OMIM:247200 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,... |
OMIM:610168 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Cleft upper lip, Cleft palate, Hypoplastic pelvis, Low-set ears, Tetraamelia, Anal ... |
OMIM:273395 |
Blau Syndrome |
|
Camptodactyly of finger, Xerostomia, Synovitis, Joint swelling, Polyarticular arthritis, Abnormal... |
ORPHA:90340 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Uplifted earlobe, Micrognathia, Widely spaced tee... |
OMIM:619841 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Inguinal hernia, Diastasis recti, Craniosynostosis, Coxa valga, Metaphyseal widening,... |
OMIM:252500 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Noonan Syndrome 13 |
|
Pes planus, Overlapping toe, Lower limb asymmetry, Tapered finger, Metatarsus adductus, Bilateral... |
OMIM:619087 |
Velocardiofacial Syndrome |
|
Talipes, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Abnorm... |
OMIM:192430 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Proximal placement of thumb, Postnatal growth retardation, Lon... |
OMIM:616263 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Co... |
OMIM:612289 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Talipes equinovarus, Camptodactyly, Cubitus... |
OMIM:214110 |
Noonan Syndrome 1 |
|
Micrognathia, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft palate, Synovitis, ... |
OMIM:163950 |
49,Xxxyy Syndrome |
|
Finger clinodactyly, Bilateral talipes equinovarus, Abnormal plantar dermatoglyphics |
ORPHA:261534 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Corneal opacity, Kyphosis, Astigmatism, Polydactyl... |
ORPHA:464306 |
Monosomy 9Q22.3 |
|
Cataract, Short neck, Palmar pits, Kyphosis, Abnormality of the vertebral column, Polydactyly, Me... |
ORPHA:77301 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Hearing impairment, Micrognathia, Submucous cleft hard palate, Cleft palate, Mi... |
OMIM:301043 |
Optic Atrophy 11 |
|
Facial diplegia, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, F... |
OMIM:617302 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Torticollis, Progressive flexion contractures, Talipe... |
ORPHA:98808 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:261537 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Sensorineural hearing impairment, Temporomandibular joint ankylosis, Gingival overg... |
ORPHA:580 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Congenital diaphragmatic hernia |
OMIM:612530 |
Bladder Exstrophy And Epispadias Complex |
|
Anteriorly placed anus, Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Postaxial polydactyly, Highly arched eyebrow, Trichiasis, Delayed closure of the a... |
OMIM:618460 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ulnar deviation of the wrist, Grayish enamel, Coxa valga, Metaphyseal widening, ... |
OMIM:253010 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Polydactyly, Sparse lateral eyebrow |
ORPHA:314655 |
49,Xxxxy Syndrome |
|
Pes planus, Abnormal dental enamel morphology, Coxa valga, Elbow dislocation, Hip dislocation, Ra... |
ORPHA:96264 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty... |
ORPHA:363958 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Celiac disease... |
ORPHA:293987 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Widow's peak, Broad pa... |
OMIM:227330 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hypoplasia of the maxilla, Cleft palate,... |
ORPHA:500150 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Talipes e... |
OMIM:618651 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... |
ORPHA:89842 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:2152 |
Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Long fingers, Abnormal bon... |
ORPHA:79324 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Wide mouth, Pes valgus, Sh... |
ORPHA:466950 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume, Brachydactyly |
ORPHA:168577 |
Pgm3-Cdg |
|
Lactose intolerance, Decreased/absent ankle reflexes, High palate, Esophagitis, Chronic sinusitis... |
ORPHA:443811 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Talipes equinovarus, Femoral bowing |
OMIM:615415 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Tympanosclerosis, Enamel hypoplasia, Malabsorption |
OMIM:240300 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, Macroglossia, Talipes equinovarus, Short palm, Umbilical hernia, Broad thumb |
OMIM:614501 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Pes planus, Inguinal hernia, Genu recurvatum, Postnatal growth retardation, Adducted ... |
ORPHA:90348 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, High palate, Conductive he... |
ORPHA:740 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Polydactyly, Sparse hair |
OMIM:619869 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri... |
ORPHA:2729 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Alkaptonuria |
|
Joint dislocation, Cartilage destruction, Hearing abnormality, Osteoarthritis, Arthritis, Joint s... |
ORPHA:56 |
Kleefstra Syndrome |
|
Pulmonary artery stenosis, Coarctation of aorta, Macroglossia, Talipes equinovarus, Hernia |
ORPHA:261494 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
OMIM:619476 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Talipes equinovarus, Brachyd... |
OMIM:100300 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Downturned corners of mout... |
ORPHA:466943 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Hand muscle weakness, Arefle... |
ORPHA:99956 |
Adult-Onset Still Disease |
|
Cartilage destruction, Joint swelling, Arthritis |
ORPHA:829 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphyseal chondromatosis of ra... |
ORPHA:99646 |
Spinocerebellar Ataxia Type 36 |
|
Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment |
ORPHA:276198 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Diastasis recti, Craniosynostosis, Limited wrist movement, Post... |
ORPHA:576 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi... |
OMIM:122470 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia,... |
ORPHA:457284 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Hearing impairment |
OMIM:614153 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Calcaneovalgus defor... |
ORPHA:261552 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture, Furrowed t... |
OMIM:148210 |
Infantile Liver Failure Syndrome 3 |
|
Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ... |
OMIM:618641 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Thyroiditis, Pedal edema, Sialadenitis, Chronic sinusitis |
ORPHA:449395 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Wide mouth, Widely sp... |
ORPHA:98794 |
Opitz Gbbb Syndrome |
|
Natal tooth, Prominent metopic ridge, Posteriorly rotated ears, Craniosynostosis, Micrognathia, C... |
ORPHA:2745 |
Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Aganglionic megacolon, Short palm |
ORPHA:3339 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Glucagonoma |
|
Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus, Elevated circulating growth ... |
ORPHA:97280 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micromelia, Rocker bottom foot, Elbow dislocation, Hip dislocation, Fing... |
ORPHA:99776 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Talipes equinovarus, Camptodactyly |
ORPHA:314679 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Monosomy 18Q |
|
Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Left aortic arch wit... |
ORPHA:1600 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Talipes equinovarus |
OMIM:619752 |
Jaberi-Elahi Syndrome |
|
Hand clenching, Talipes equinovarus |
OMIM:617988 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of t... |
OMIM:180849 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Degcags Syndrome |
|
Micrognathia, High palate, Syndactyly, Hiatus hernia, Short thumb, Thick vermilion border, Low-se... |
OMIM:619488 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met... |
OMIM:272950 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Tali... |
OMIM:225500 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Talipes equinovarus |
OMIM:617865 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Micrognathia, Structur... |
ORPHA:1662 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Pyloric stenosis, Cryptorchidism... |
ORPHA:1606 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Talipes equinovarus |
OMIM:177980 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Limb undergrowth, Flexion contracture, Talipes equinovarus |
OMIM:619124 |
Legius Syndrome |
|
Cataract, Diaphyseal dysplasia, Polydactyly, Scoliosis, Lisch nodules, Clinodactyly of the 5th fi... |
ORPHA:137605 |
Renal Hypodysplasia/Aplasia 1 |
|
Talipes equinovarus |
OMIM:191830 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Torticollis, Broad hallux, Tapered finger, Short thumb, Bilateral talipes equinovarus... |
OMIM:620224 |
Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Enlarged lacrimal glands, Enlargement of parotid gland, Join... |
ORPHA:797 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Hip dislocation, Absent Achilles reflex, Short foot, Macroglossia, Fibular bowin... |
OMIM:618268 |
Mirage Syndrome |
|
Overlapping fingers, Rocker bottom foot, Radial club hand, Talipes equinovarus |
OMIM:617053 |
Barth Syndrome |
|
Skeletal myopathy, Talipes equinovarus |
OMIM:302060 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:618797 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Facial hypotonia, Craniosynostosis, Cranial hyperostosis, Osteolysis, Genu valgum, Ma... |
ORPHA:309282 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pes planus, Hyperextensibility of the finger joints, Inguinal hernia, Overlapping toe, Craniosyno... |
OMIM:213980 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Talipes equinovarus, Camptodactyly, Hand clenching, Joint contracture of the hand,... |
OMIM:251300 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Craniosynostosis, Descending thoracic aorta aneurysm, Postaxial hand polydactyly,... |
OMIM:609192 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Finger syndactyly, Inguinal hernia, Congenital hip dislocation, Toe syndactyly, Camp... |
ORPHA:373 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Pes planus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ac... |
OMIM:225400 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Talipes equinovarus |
OMIM:619859 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndactyly, 3-5 toe sy... |
OMIM:300707 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Sinusitis, Aplasia of the thymus, Abnormal pelvic girdle bone morphol... |
OMIM:102700 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Cryptorchidism, Short toe, Short foot, Posterior pitui... |
ORPHA:464311 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Decreased muscle mass, Split hand, Hammertoe, Talipes equinovarus |
OMIM:261515 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Joint contracture of the hand, Congenital finger flexion contractures, Flexion co... |
ORPHA:466768 |
Bilateral Polymicrogyria |
|
Facial diplegia, Arthrogryposis multiplex congenita, Talipes equinovarus, Abnormality of masticat... |
ORPHA:268940 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Oral ulcer |
ORPHA:50918 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Genu recurvatum, Facial palsy, Elbow flexion contracture, Distal upper l... |
ORPHA:79139 |
Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Calcification of cartilage |
ORPHA:3348 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Flexion contracture, Talipes equinovarus, Corneal scarring |
OMIM:614653 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Juvenile Sialidosis Type 2 |
|
Hearing impairment, Gingival overgrowth, Low-set ears, Protruding tongue |
ORPHA:93399 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Hearing impairment, Protruding tongue |
OMIM:619580 |
Trisomy 10P |
|
Thumb contracture, Decreased muscle mass, Abnormality of the hand, Abnormal foot morphology, Shor... |
ORPHA:171929 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleton morphology, Posterior ... |
ORPHA:563612 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Hip subluxation, Hip dislocation, Os... |
OMIM:182250 |
16P13.11 Microdeletion Syndrome |
|
Talipes equinovarus, Camptodactyly of finger, Metatarsus valgus |
ORPHA:261236 |
Angelman Syndrome |
|
Mandibular prognathia, Precocious puberty in females, Protruding tongue, Wide mouth, Widely space... |
ORPHA:72 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Proximal placement of thumb, Deep palmar crease, Talipes equinovarus, Clinodactyly of the 5th fin... |
OMIM:604314 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hip dislocation, Ascending tubular aorta an... |
OMIM:617403 |
Lathosterolosis |
|
Toe syndactyly, Foam cells with lamellar inclusion bodies, Postaxial hand polydactyly, Osteoporos... |
OMIM:607330 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Talipes equinovarus, Coarctation of aorta |
OMIM:617260 |
Desmosterolosis |
|
Rhizomelia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogryposis multiplex c... |
OMIM:602398 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esophageal varix, Bilateral c... |
OMIM:301068 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly |
OMIM:616546 |
Loeys-Dietz Syndrome 3 |
|
Knee osteoarthritis, Abdominal aortic aneurysm, Arachnodactyly, Uterine prolapse, Umbilical herni... |
OMIM:613795 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Parkinsonian-Pyramidal Syndrome |
|
Talipes equinovarus, Hypomimic face |
ORPHA:171695 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Epiphyseal stippling, Talipes equinovarus, ... |
OMIM:614866 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... |
OMIM:192350 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Talipes equinovarus |
OMIM:619493 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Curly hair, Sacral dimple, Cataract, Overlapping toe, Congenital hip dislocation, ... |
ORPHA:480880 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Giant Cell Arteritis |
|
Vertigo, Arthritis, Conductive hearing impairment, Glossitis, Hearing impairment |
ORPHA:397 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Cerebrooculonasal Syndrome |
|
Sparse eyelashes, Postaxial polydactyly, Craniosynostosis, Sparse eyebrow, Postaxial hand polydac... |
OMIM:605627 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu... |
ORPHA:653 |
Cloacal Exstrophy |
|
Omphalocele, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula morphology,... |
ORPHA:93929 |
Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impairment, Duplicated tragus... |
OMIM:164210 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... |
ORPHA:227982 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Bilateral tal... |
OMIM:255995 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Osteoporosis, Short foot, Talipes equinovaru... |
OMIM:268400 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral sensorineural hearing ... |
ORPHA:1051 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis |
ORPHA:2396 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisional hernia... |
ORPHA:287 |
Wolf-Hirschhorn Syndrome |
|
Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Short thumb, Abnormal foot morphol... |
ORPHA:280 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary adrenal i... |
ORPHA:227990 |
Reactive Arthritis |
|
Cartilage destruction, Arthritis, Inflammation of the large intestine, Joint swelling, Recurrent ... |
ORPHA:29207 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palma... |
OMIM:615726 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... |
ORPHA:1359 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Cryptorchidism, Downturned corners of mouth, Macroglossia, Everted lower lip v... |
ORPHA:96147 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, Microdontia, Clinodactyly of the 5th finger, Chron... |
ORPHA:904 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Femoral bowing, Anteriorly placed anus, Decreased circulati... |
OMIM:201750 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Abetalipoproteinemia |
|
Osteopenia, Myopathy, Talipes equinovarus, Distal lower limb muscle weakness, Pes cavus |
ORPHA:14 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Deep philtrum, Cryptorchidism, Abnormali... |
ORPHA:438213 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Ankle clonus, Talipes valgus, Submucous cleft hard palate, Pes cavus |
OMIM:618891 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Thin upper lip vermilion, High, narrow palate, Short uvula, Cupped ear, Genu valgum, Broad philtr... |
OMIM:619475 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Osteopenia, Talipes cavus equinovarus, Postnatal growth retardation, Short digit |
OMIM:300966 |
Congenital Fibrosis Of Extraocular Muscles |
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Hand oligodactyly |
ORPHA:45358 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Long toe, Pes planus, Postnatal growth retardation, Long fingers, Talipes equinovarus, Slender fi... |
OMIM:613355 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Foot joint contracture, Oral mucosal... |
ORPHA:79408 |
Rett Syndrome, Congenital Variant |
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Pes planus, Talipes equinovarus |
OMIM:613454 |
Iniencephaly |
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Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus... |
ORPHA:63259 |
Microcephaly 26, Primary, Autosomal Dominant |
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Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Otosclerosis 4 |
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Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Syndactyly, Cataract, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trichiasis, A... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Syndactyly, Cataract, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trichiasis, A... |
ORPHA:353277 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Abnormal ea... |
ORPHA:116 |
Bilateral Perisylvian Polymicrogyria |
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Protruding tongue, Ectopic posterior pituitary, Micrognathia |
ORPHA:98889 |
Wolf-Hirschhorn Syndrome |
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Decreased muscle mass, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short... |
OMIM:194190 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Atrophic scars, Distal arthrogryposis, ... |
OMIM:601776 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Craniosynostosis, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Small pituitary gland |
OMIM:614195 |
Generalized Pustular Psoriasis |
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Arthritis, Geographic tongue, Cheilitis, Pedal edema |
ORPHA:247353 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Talipes equinovarus, Tapered finger |
OMIM:613603 |
Holoprosencephaly 2 |
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Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ... |
OMIM:157170 |
Limb Body Wall Complex |
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Ventral hernia, Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmati... |
ORPHA:2369 |
Hereditary Folate Malabsorption |
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Glossitis, Cheilitis |
ORPHA:90045 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Overlapping fingers, Bilateral talipes equinovarus, Knee flexion contracture |
OMIM:619708 |
Aprosencephaly And Cerebellar Dysgenesis |
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Talipes equinovarus, Craniosynostosis |
OMIM:601374 |
Pitt-Hopkins-Like Syndrome 2 |
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Wide mouth, Protruding tongue |
OMIM:614325 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Reduced subcutaneous adipose tissue, Pes planus, Overlapping toe, Knee flexion contracture, Talip... |
OMIM:617402 |
X-Linked Intellectual Disability, Nascimento Type |
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Overlapping toe, Clubbing of toes, Short foot, Bilateral talipes equinovarus, Pes cavus, Peripher... |
ORPHA:163956 |
22Q11.2 Deletion Syndrome |
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Inguinal hernia, Arachnodactyly, Abnormal dental enamel morphology, Abnormal aortic arch morpholo... |
ORPHA:567 |
Ablepharon-Macrostomia Syndrome |
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Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talip... |
OMIM:200110 |
Mucoepithelial Dysplasia, Hereditary |
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Erythematous oral mucosa, Hearing impairment, Furrowed tongue |
OMIM:158310 |
Split Cord Malformation |
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Pes planus, Lower limb asymmetry, Abnormal foot morphology, Talipes cavus equinovarus, Talipes eq... |
ORPHA:573278 |
Otosclerosis 10 |
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Otosclerosis |
OMIM:615589 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
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Ankyloglossia |
OMIM:619352 |
Agel Amyloidosis |
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Tongue atrophy, Xerostomia, Hearing impairment |
ORPHA:85448 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Congenital hip dislocation, Long fingers, Bilateral talipes equinovarus, Clinodactyly of the 5th ... |
OMIM:619512 |
Ehlers-Danlos Syndrome, Vascular Type |
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Inguinal hernia, Descending aortic dissection, Cigarette-paper scars, Cystocele, Foot acroosteoly... |
OMIM:130050 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Macroglossia, Abnormality of the temporomandibular joint, Open mouth, Protruding tongue |
ORPHA:258 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac... |
ORPHA:273 |
Tetrasomy 9P |
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Juxtaductal coarctation of the aorta, Myositis, Bilateral single transverse palmar creases, Abnor... |
ORPHA:3310 |
8P11.2 Deletion Syndrome |
|
Talipes equinovarus |
ORPHA:251066 |
Neurooculorenal Syndrome |
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Postnatal growth retardation, Short 1st metacarpal, Talipes equinovarus, Short hallux |
OMIM:620305 |
X-Linked Dystonia-Parkinsonism |
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Protruding tongue |
ORPHA:53351 |
Imerslund-Gräsbeck Syndrome |
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Glossitis, Angular cheilitis |
ORPHA:35858 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Lumbar hyperlordosis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Kyphos... |
OMIM:309800 |
Renal Agenesis |
|
Talipes equinovarus |
ORPHA:411709 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pyloric stenosis, Submucous c... |
OMIM:235730 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stomatitis, Glossitis, Low-set ears, Smooth philtrum |
ORPHA:79282 |
Costello Syndrome |
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Hyperextensibility of the finger joints, Rhabdomyosarcoma, Limited elbow movement, Achilles tendo... |
OMIM:218040 |
Microsporidiosis |
|
Sinusitis, Abnormality of the parathyroid gland, Thyroiditis, Adrenocortical abnormality, Glossitis |
ORPHA:2552 |
Heterotaxy, Visceral, 1, X-Linked |
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Omphalocele, Congenital hip dislocation, Hypoplastic aortic arch, Coarctation of aorta, Bilateral... |
OMIM:306955 |
Sacral Defect With Anterior Meningocele |
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Sacral lipoma, Bilateral talipes equinovarus |
OMIM:600145 |
Vascular Ehlers-Danlos Syndrome |
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Uterine prolapse, Inguinal hernia, Congenital hip dislocation, Aplasia/Hypoplasia of the abdomina... |
ORPHA:286 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Pes planus, Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankyloglossia |
OMIM:619525 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Talipes equinovarus |
OMIM:616393 |
Fanconi Anemia, Complementation Group L |
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Absent radius, Bilateral talipes equinovarus, Absent thumb |
OMIM:614083 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Pes planus, Ankle flexion contracture, Craniosynostosis, Bilate... |
ORPHA:821 |
Oeis Complex |
|
Omphalocele, Congenital hip dislocation, Talipes equinovarus |
OMIM:258040 |
Kawasaki Disease |
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Arthritis, Glossitis, Cheilitis |
ORPHA:2331 |
Plague |
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Chapped lip, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large intest... |
ORPHA:707 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Syndactyly, Postaxial polydactyly, Broad first metatarsal, Knee dislocation, Polydactyly, Broad t... |
OMIM:619534 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Peroneal muscle atrop... |
ORPHA:2388 |
Penile Agenesis |
|
Bilateral talipes equinovarus |
ORPHA:49 |