Syndactyly Type 1 |
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Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Digital Clubbing, Isolated Congenital |
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Clubbing |
OMIM:119900 |
Brachydactyly, Type D |
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Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
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Type A1 brachydactyly |
OMIM:188201 |
Syndactyly, Type Iii |
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Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
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Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Toes, Space Between First And Second |
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Sandal gap |
OMIM:189230 |
Sugarman Brachydactyly |
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Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Brachydactyly, Type A3 |
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Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Brachydactyly, Type A2 |
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Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Brachydactyly Type A7 |
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Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Liebenberg Syndrome |
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Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Brachydactyly-Syndactyly Syndrome |
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Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Familial Digital Arthropathy-Brachydactyly |
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Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Syndactyly Type 3 |
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Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
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Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
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Syndactyly, Short toe |
OMIM:614341 |
Digital Arthropathy-Brachydactyly, Familial |
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Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Postaxial Tetramelic Oligodactyly |
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Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Polydactyly, Postaxial, Type A5 |
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Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Brachydactyly, Type A4 |
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Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Thiemann Disease |
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Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Brachydactyly, Type A1, C |
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Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Hallux Varus-Preaxial Polysyndactyly Syndrome |
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Clinodactyly of the 5th finger, Sandal gap |
ORPHA:2110 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Radial Hemimelia |
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Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
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Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Symphalangism, Proximal, 1B |
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Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion crease, Proximal/middle... |
OMIM:615298 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Triphalangeal Thumbs With Brachyectrodactyly |
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Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Craniosynostosis, Adelaide Type |
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Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
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Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
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 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Split-Hand/Foot Malformation 6 |
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Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Brachydactyly, Type A1, B |
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Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Keratosis Palmaris Et Plantaris With Clinodactyly |
|
Clinodactyly of the 5th finger |
OMIM:148520 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Thumb Deformity |
|
Aplasia/Hypoplasia of the thumb |
OMIM:188100 |
Split-Hand/Foot Malformation 4 |
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Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Short stature, Camptodactyly of finger, Renal agenesis, Broad thumb, Short ... |
ORPHA:1471 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Adactylia, Unilateral |
|
Short thumb, Adactyly |
OMIM:102650 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger |
OMIM:119650 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... |
ORPHA:971 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split foot, Severe short stature, Split hand, Tapered finger |
OMIM:220600 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1113 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
Split-Hand And Split-Foot With Hypodontia |
|
Split hand, Split foot |
OMIM:183500 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Bifid uterus, ... |
OMIM:258040 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Abnormal... |
DECIPHER:46 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Fatco Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... |
ORPHA:2492 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... |
OMIM:607078 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity |
|
Split hand |
OMIM:246555 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly |
ORPHA:9 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Postaxial hand polydactyly, Split ... |
ORPHA:2491 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of hallux, Partial duplication of the distal phalanx of the hallux, Short di... |
OMIM:256200 |
Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:1795 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles... |
ORPHA:750 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... |
OMIM:609052 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... |
ORPHA:3104 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly |
OMIM:300577 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
Eng-Strom Syndrome |
|
Short stature, Camptodactyly of finger, Arthritis, Intrauterine growth retardation, Brachydactyly |
ORPHA:1937 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Abnormal toe morphology, Abnormal carpal morpholo... |
OMIM:216100 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly |
OMIM:610313 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... |
OMIM:617974 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones, Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
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 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha... |
OMIM:201170 |
Winchester Syndrome |
|
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Intrauterine growth... |
ORPHA:85173 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Mmep Syndrome |
|
Cryptorchidism, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly |
ORPHA:444051 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Split hand, Hand muscle weakness |
ORPHA:100998 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Alopecia-Intellectual Disability Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Split hand, Growth delay, Brachydactyly |
ORPHA:2850 |
Pseudoachondroplasia |
|
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente... |
OMIM:177170 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... |
ORPHA:85450 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, Clinodactyly... |
ORPHA:521308 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism, Polydactyly, Bra... |
OMIM:615982 |
Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Feingold Syndrome 2 |
|
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... |
OMIM:614326 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Joint contracture of the hand, Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand... |
ORPHA:399086 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Split hand |
OMIM:610099 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate |
OMIM:236110 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism |
OMIM:617564 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl... |
ORPHA:2619 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Abnormality of the upper urinary tract, Abnormality... |
ORPHA:2145 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Short stature, Brachydactyly |
OMIM:613382 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormality of th... |
ORPHA:337 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... |
ORPHA:166024 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus |
OMIM:607831 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Seckel Syndrome 7 |
|
Severe short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hip dys... |
OMIM:614851 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip... |
ORPHA:166016 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Dysmenorrhea, Hypergonadotropic hypogonadism, Decreased fe... |
ORPHA:90796 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... |
ORPHA:79106 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Clinodactyly, 2-3 toe syndactyly |
OMIM:619311 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle weakness, Split hand, Hammertoe, Thenar muscle atrophy |
OMIM:118300 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... |
ORPHA:873 |
Hypoglossia-Hypodactylia |
|
Adactyly, Split hand, Micrognathia |
OMIM:103300 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphol... |
ORPHA:2370 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, Absent proxi... |
OMIM:249600 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia... |
OMIM:613390 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Renal hypoplasia, Camptodactyly |
OMIM:246560 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas... |
ORPHA:1307 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Mesomelic Dysplasia, Kantaputra Type |
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Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Acces Syndrome |
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Hip dislocation, Horseshoe kidney, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly of the 5... |
OMIM:619959 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... |
OMIM:171480 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Eem Syndrome |
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Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
RCAD (renal cysts and diabetes) |
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Multiple renal cysts |
DECIPHER:47 |
Jeune Syndrome |
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Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Posta... |
ORPHA:474 |
Isochromosomy Yp |
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Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Intellectual Developmental Disorder, X-Linked 101 |
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Clinodactyly |
OMIM:300928 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Primary amenorrhea, Micropenis, Ect... |
OMIM:147950 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Clinodactyly |
ORPHA:500166 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly |
OMIM:618453 |
Orofaciodigital Syndrome Xviii |
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Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Short stature, Urinary incont... |
OMIM:617927 |
Heart-Hand Syndrome, Slovenian Type |
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Brachydactyly |
ORPHA:168796 |
Polycystic Kidney Disease 7 |
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Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Bardet-Biedl Syndrome 7 |
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Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Thalidomide Embryopathy |
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Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Ulnar claw, Hammertoe, Split hand, Talipes equinovarus |
OMIM:604563 |
Metaphyseal Dysplasia Without Hypotrichosis |
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Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
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Split hand, Short stature, Premature ovarian insufficiency |
OMIM:618124 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
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Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Platyspondylic Dysplasia, Torrance Type |
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Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Hypochondroplasia |
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Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... |
OMIM:146000 |
Vertical Talus, Congenital |
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Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Deafness-Infertility Syndrome |
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Male infertility, Azoospermia |
ORPHA:94064 |
Jackson-Weiss Syndrome |
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Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Silver-Russell Syndrome Due To A Point Mutation |
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Syndactyly, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Short 5th fi... |
ORPHA:397590 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Hammertoe, Split hand |
OMIM:118220 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Burkitt Lymphoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Spastic Paraplegia 17, Autosomal Dominant |
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Thenar muscle weakness, Split hand, Thenar muscle atrophy |
OMIM:270685 |
Patent Ductus Arteriosus 2 |
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Clinodactyly of the 5th finger |
OMIM:617035 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan... |
OMIM:165800 |
Macdermot-Winter Syndrome |
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Hydronephrosis, Intrauterine growth retardation, Camptodactyly of finger |
OMIM:247990 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis |
OMIM:615996 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Bowing of the legs, Secondary amenorrhea, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat... |
ORPHA:2928 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Micropenis, Abnormal pelvic... |
OMIM:157900 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Abnormality of the hand, Abnor... |
ORPHA:2496 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Keipert Syndrome |
|
Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Sandal gap |
OMIM:251220 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Congenital Vertical Talus |
|
Lower extremity joint dislocation, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
Charcot-Marie-Tooth Disease Type 4D |
|
Distal upper limb muscle weakness, Split hand, Hammertoe, Upper limb amyotrophy |
ORPHA:99950 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Renal agenesis, Dysmenorrhea, Abnormal uterine... |
ORPHA:3411 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Lamb-Shaffer Syndrome |
|
Long fingers, Clinodactyly, Overlapping toe, Long hallux |
OMIM:616803 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes |
ORPHA:2513 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Short stature, Foot polydactyly |
ORPHA:3004 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, ... |
OMIM:612626 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Ulnar claw, Hammertoe, Split hand |
OMIM:118200 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal... |
ORPHA:2900 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens |
OMIM:277180 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly, Craniosynostosis |
OMIM:109050 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Clinodactyly, Short palm |
ORPHA:73273 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Small hand, Abnormal femur morphology, Abnormal epiphysis... |
ORPHA:969 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria, Abdominal pain |
OMIM:600989 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, ... |
OMIM:608154 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... |
ORPHA:37202 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Pes planus, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender finger |
OMIM:620393 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis |
ORPHA:2117 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum |
ORPHA:2256 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... |
ORPHA:166011 |
Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Urete... |
ORPHA:2437 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short stature, Infertility, Cubitus valgus, Micropenis, Decreased testicular size |
ORPHA:261524 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Type E brachydacty... |
OMIM:113300 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Disproportionate... |
ORPHA:1856 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... |
OMIM:617914 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Short stature, Hypogonadotropic hypogonadism, Genu recurvatum, Sp... |
OMIM:604168 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... |
ORPHA:2662 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ... |
OMIM:201750 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Tibi... |
OMIM:608940 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Bilateral renal age... |
OMIM:616258 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali... |
ORPHA:83468 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad femoral neck, Broad metat... |
OMIM:615222 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst |
OMIM:231060 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia |
OMIM:600151 |
Pseudopseudohypoparathyroidism |
|
Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short ... |
ORPHA:79445 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal... |
OMIM:618658 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Split hand |
OMIM:617882 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Short stature, Genu recurvatum, Micromelia, Metaphyseal widening... |
OMIM:184260 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Humeroradial synostosis, Forearm under... |
OMIM:251230 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Short stature, Abnormal metatarsal morphology, Hip subluxation, Flat capita... |
ORPHA:93360 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Vesicoureteral reflux... |
OMIM:244600 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Severe postnat... |
ORPHA:319675 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... |
ORPHA:2973 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hand-Foot-Genital Syndrome |
|
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... |
OMIM:140000 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Split hand, Organic aciduria |
OMIM:614707 |
White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
Cleft Palate, Deafness, And Oligodontia |
|
Sandal gap, Short hallux |
OMIM:216300 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Hypospadias 3, Autosomal |
|
Hypospadias |
OMIM:146450 |
Hypospadias 2, X-Linked |
|
Penoscrotal hypospadias |
OMIM:300758 |
Hypospadias 1, X-Linked |
|
Perineal hypospadias |
OMIM:300633 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux |
OMIM:617127 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A... |
ORPHA:1860 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Split hand |
OMIM:610127 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia, Anal... |
OMIM:601389 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Cach Syndrome |
|
Premature ovarian insufficiency, Renal hypoplasia, Primary amenorrhea, Secondary amenorrhea, Feed... |
ORPHA:135 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... |
OMIM:259600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... |
OMIM:271650 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short stature, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Abnor... |
ORPHA:921 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Intraute... |
ORPHA:195 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Split hand, Urinary incontinence, Intrinsic hand muscle atrophy |
OMIM:616688 |
Zaki Syndrome |
|
Toe syndactyly, Short stature, Renal agenesis, Long fingers, Ectrodactyly, Broad distal phalanx o... |
OMIM:619648 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,... |
ORPHA:2470 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double-layered patel... |
ORPHA:93307 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Prieto Syndrome |
|
Coxa valga, Patellar subluxation, Talipes equinovarus, Radial deviation of finger, Patellar dislo... |
OMIM:309610 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Short stature, Bilateral single tran... |
ORPHA:2377 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Brachydactyly |
OMIM:619692 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Rena... |
ORPHA:85284 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa valga, Coxa vara, Shor... |
OMIM:617396 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ... |
OMIM:184250 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Gastroesophageal reflux, Vesicovaginal fistula, High palate |
OMIM:300896 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... |
OMIM:619543 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Cryptorchidism, Abno... |
ORPHA:3409 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Flared metaphysis, Elbow flexion contractur... |
OMIM:184252 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Renal hypoplasia |
OMIM:617926 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the middle phalanx of the 4th toe, Short toe, Absent middle phalanx of the 3rd toe, Ap... |
OMIM:615297 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ... |
OMIM:614613 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... |
OMIM:146255 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Brachydactyly |
ORPHA:2762 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand pol... |
ORPHA:3098 |
Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome |
|
Clinodactyly of the 5th finger, Diffuse palmoplantar hyperkeratosis |
ORPHA:86919 |
Potocki-Shaffer Syndrome |
|
Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... |
ORPHA:2741 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Satoyoshi Syndrome |
|
Short metacarpal, Short stature, Short metatarsal, Amenorrhea, Osteolytic defects of the phalange... |
OMIM:600705 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis |
ORPHA:251046 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Split hand, Intrinsic hand muscle ... |
ORPHA:101097 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Urina... |
ORPHA:2795 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... |
OMIM:158330 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... |
OMIM:273250 |
Trisomy 13 |
|
Displacement of the urethral meatus, Cryptorchidism, Postaxial hand polydactyly, Abnormality of t... |
ORPHA:3378 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,... |
OMIM:611376 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... |
OMIM:618569 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... |
OMIM:617604 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Abnormality of the testis size, Fi... |
ORPHA:99330 |
Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger |
OMIM:188025 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Hydronephrosis |
ORPHA:251076 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Abnormality of the hand, Brachydactyly |
ORPHA:1264 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis, Short metat... |
OMIM:190351 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Wrist swelling, St... |
OMIM:166300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Anteriorly placed anus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Mesomelia, Short ti... |
OMIM:605274 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
15q24 recurrent microdeletion syndrome |
|
Hypospadias |
DECIPHER:66 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... |
OMIM:601680 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Cr... |
ORPHA:2879 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot |
OMIM:601349 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali... |
ORPHA:1326 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora... |
OMIM:249700 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Hammertoe, Split hand |
OMIM:145900 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular se... |
ORPHA:139466 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl... |
ORPHA:1515 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Single transverse palmar crease, Adducted thumb, Hydrocele testis, Brachydactyly |
OMIM:620062 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Proximal placement of thumb, Limited elbow movement, Postnatal growth retardation,... |
OMIM:300590 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Abnormal diaphysis morphology, Abnorm... |
ORPHA:1657 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Temtamy Syndrome |
|
Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum |
ORPHA:1777 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... |
OMIM:206920 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Short foot, Acromicria, Small hand, Clinodactyly |
ORPHA:254525 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachy... |
OMIM:618265 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... |
OMIM:618395 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... |
OMIM:600325 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly of the 5th finge... |
ORPHA:444002 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Vaginal fistula, Horseshoe kidney |
OMIM:619318 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short stature, Short foot, Short palm, Mild short stature, Brachydactyly |
OMIM:618522 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Hypospadias, Gastroesophageal reflux |
ORPHA:250994 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl... |
OMIM:226960 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Polyhydramnios, Esophageal atresia, Tracheoesophageal fis... |
ORPHA:1923 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Short stature, Ankle flexion contracture, Elbow flexion contracture, Knee flexio... |
ORPHA:85285 |
Steel Syndrome |
|
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... |
OMIM:615155 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:261204 |
Short Stature, Dauber-Argente Type |
|
Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation... |
OMIM:619489 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... |
OMIM:215045 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... |
ORPHA:1756 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Hypomelanosis Of Ito |
|
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger |
OMIM:300337 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Split hand |
ORPHA:168486 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Short stature, Hypogonadotropic hypogonadis... |
ORPHA:353298 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal ... |
ORPHA:85321 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity |
OMIM:162370 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia, Cleft palate, A... |
OMIM:618494 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Proteinuria, Short iliac bones, Glomerulonephritis, Metaphyseal wideni... |
OMIM:614376 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Split hand, Weakness of lon... |
ORPHA:324442 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux... |
OMIM:617219 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Short stature, Brachydactyly |
OMIM:612463 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Brachydactyly |
OMIM:610498 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hyposp... |
ORPHA:2863 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Abnormal e... |
ORPHA:503 |
Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Short foot, Oligodactyly |
OMIM:619758 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Clinodactyly |
OMIM:300934 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Cryptorchidism, Limited elbow extension, Short metat... |
OMIM:180870 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus... |
OMIM:601076 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Microduplication Xp11.22P11.23 Syndrome |
|
Pes planus, Toe syndactyly, Pes cavus |
ORPHA:217377 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula... |
ORPHA:1834 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of th... |
OMIM:619451 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Osteoarthritis, Abnormal femur morphology, G... |
ORPHA:1822 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... |
OMIM:236500 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph... |
ORPHA:1824 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Limb undergrowth, Coar... |
OMIM:618961 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... |
ORPHA:49 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Polyhydramnios, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, ... |
ORPHA:456328 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Short stature, Single transverse palmar crease, Postnatal grow... |
OMIM:616651 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... |
OMIM:619218 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... |
ORPHA:2842 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... |
ORPHA:1552 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Cryptor... |
ORPHA:2083 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Decreased liver function, Renal cyst |
OMIM:614870 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Renal hypoplasia, High palate, Vesicoureteral reflux, Anal at... |
OMIM:616854 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo... |
ORPHA:3440 |
Hadziselimovic Syndrome |
|
High palate, Renal hypoplasia, Anal atresia |
OMIM:612946 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Pyloric stenosis, Decreased fertility, Renal hypoplasia, Ect... |
ORPHA:3138 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Hip dysplasia, Polydactyly, Hydro... |
ORPHA:531151 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus... |
ORPHA:163966 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia, Feeding difficulties |
ORPHA:464288 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Intestinal obstruction |
ORPHA:2323 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... |
OMIM:615986 |
Greenberg Dysplasia |
|
Abnormal pelvis bone ossification, Rhizomelia, Micromelia, Brachydactyly |
ORPHA:1426 |
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ... |
OMIM:106995 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl... |
ORPHA:2538 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodactyly |
ORPHA:85279 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular e... |
ORPHA:263463 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Ventral shortening of foreskin, Cryptorchidism, Esophageal atresia, Cleft palate, ... |
ORPHA:95706 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Renal hypoplasia/aplasia, Split ... |
ORPHA:958 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Auriculoosteodysplasia |
|
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... |
ORPHA:114 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Hydronephrosis, Abdominal pain |
ORPHA:449400 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ... |
ORPHA:342 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Severe short stature, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis... |
OMIM:607095 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Short hallux, Metaphyseal widening, Abnormality o... |
OMIM:135100 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Severe short stature, Sandal gap, Cryptorchidism, Abnormal finger ... |
ORPHA:3051 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Abnormality of the ur... |
ORPHA:1046 |
Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a... |
OMIM:617666 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly |
OMIM:266265 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... |
OMIM:617641 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sh... |
OMIM:201000 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
Trisomy X |
|
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia |
ORPHA:3375 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Intestinal malrotation, Unilateral renal agenesis, Cryptorchi... |
OMIM:609029 |
Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palat... |
OMIM:248700 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Hypertrophic cardiomyopathy... |
OMIM:618815 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Imagawa-Matsumoto Syndrome |
|
Clinodactyly, Large hands, Camptodactyly |
OMIM:618786 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Renal cyst |
OMIM:174050 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re... |
OMIM:191830 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Postnata... |
OMIM:611717 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Secondary amenorrhea, D... |
ORPHA:3085 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Cleft palate, Dysphagia, Feeding dif... |
ORPHA:96170 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Limited knee extension, W... |
ORPHA:239 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Short toe, Abnormality of the elbow, Osteoarthritis, D... |
ORPHA:633 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Short stature, Coxa valga, Hip dislocation, Cone-shaped epiphyses of th... |
ORPHA:2484 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Single transverse palmar crease, Micropenis, High axial triradius, Short... |
OMIM:268650 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Absent thumb |
OMIM:274190 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
Isolated Atp Synthase Deficiency |
|
3-Methylglutaconic aciduria, Hypogonadism, Renal hypoplasia |
ORPHA:254913 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Brachyolmia Type 3 |
|
Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ... |
OMIM:113500 |
Monosomy 5P |
|
Finger syndactyly, Small hand |
ORPHA:281 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Flattened epiphysis, Genu valgum, Polydact... |
OMIM:607131 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechoge... |
OMIM:613885 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Split hand, Hypopla... |
OMIM:200980 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Growth delay, Hip dysplasia, ... |
OMIM:619762 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Polycystic kid... |
OMIM:614091 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
Erythrokeratodermia Variabilis |
|
Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology, Br... |
ORPHA:317 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,... |
OMIM:613091 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Wrist swelling, Slender long bone, Metacarpal osteolysis, A... |
ORPHA:2774 |
Tetraploidy |
|
Radial club hand, Renal hypoplasia/aplasia, Hydronephrosis, Intrauterine growth retardation |
ORPHA:3305 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Radial deviation of finger, Campt... |
OMIM:136760 |
Toluene Embryopathy |
|
Short stature, Tapered finger, Cryptorchidism, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1920 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Cat Eye Syndrome |
|
Atrial septal defect, Vesicoureteral reflux, Patent ductus arteriosus, Total anomalous pulmonary ... |
OMIM:115470 |
Spinocerebellar Ataxia 47 |
|
Clinodactyly, Small hand, Tapered finger |
OMIM:617931 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Severe short stature, Hypospadias, Short thumb, Hypoplasia of the radius, Abnorma... |
ORPHA:2319 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Clinodactyly, 2-3 toe syndactyly |
OMIM:617352 |
Marinesco-Sjögren Syndrome |
|
Short palm, Severe short stature, Coxa valga, Avascular necrosis of the capital femoral epiphysis... |
ORPHA:559 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac... |
OMIM:612813 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle... |
OMIM:618853 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,... |
OMIM:615777 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Cone-shaped epiphysis, Palmoplantar keratoderma, Arachnodactyly, Brachydactyly |
ORPHA:2824 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Feeding difficulties in infancy, Renal hypoplasia, Cleft palate, Bifid... |
OMIM:608572 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Recombinant Chromosome 8 Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Growth delay, Camptodactyly, Clinodactyly of the 5t... |
OMIM:179613 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Ab... |
ORPHA:183 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Tracheoesophageal fistula, Abnormality of the kidney, Abnormal intestine ... |
ORPHA:2591 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,... |
ORPHA:85438 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate, Renal cyst, Feeding difficulties |
OMIM:615583 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis, Anal atresia, Me... |
OMIM:264480 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... |
ORPHA:70475 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Clinodactyly of the 5th finger, Clinodactyly |
OMIM:300997 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ectopic kidney, Cryptorchidism, Short thumb, Dislocated r... |
ORPHA:401935 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Renal hypoplasia |
OMIM:616817 |
Axial Spondylometaphyseal Dysplasia |
|
Iliac crest serration, Mild postnatal growth retardation, Short stature, Proximal femoral metaphy... |
ORPHA:168549 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Woolly Hair Nevus |
|
Brachydactyly |
ORPHA:79414 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... |
OMIM:601356 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, Varicocele, Renovasc... |
ORPHA:49041 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Al-Raqad Syndrome |
|
Sandal gap, Brachydactyly |
OMIM:616459 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth |
OMIM:263630 |
Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Tapered finger, Cryptorchidism, Small hand, Narrow palm, Micro... |
OMIM:615547 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Poor suck |
OMIM:604273 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Coxa valga, Disproportionate short stature, Advanced ossification... |
OMIM:618363 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hyd... |
ORPHA:2241 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Postnatal growth retardation, Severe intrauterine growth retardation, Clinodactyly... |
ORPHA:231144 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Br... |
OMIM:275900 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Pes cavus |
ORPHA:3224 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
Joubert Syndrome 37 |
|
Prominent metopic ridge, Short stature, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, Mi... |
OMIM:619185 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia, Renal hypoplasia/aplasia |
OMIM:267400 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi... |
ORPHA:1112 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Genu valgum, Abnormal metacarp... |
ORPHA:1295 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi... |
ORPHA:1427 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes... |
ORPHA:2839 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Urinary incontinence, Sept... |
OMIM:176450 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m... |
ORPHA:897 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, H... |
ORPHA:2237 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ... |
ORPHA:3265 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Renal hypoplasia, Tracheoesophageal fistula, Cleft... |
OMIM:614083 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi... |
OMIM:176000 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Ectopic kidney, Rectal prolapse, Protein-losing enteropathy, Atria... |
OMIM:235510 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Long fingers, Short toe, Cryptorchidism... |
OMIM:618659 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... |
ORPHA:2911 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Hypospadias, Postnatal growth retardation, Cryptorchidism, Short ... |
ORPHA:439822 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Craniosynostosis, Postnatal growth reta... |
OMIM:614732 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, 2-3 toe syndactyly, Growth delay, Hypogonadism, Talipe... |
ORPHA:3306 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Short foot, Clinodactyly, Small hand |
ORPHA:254531 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Renal insufficiency, Short stature, Increased carrying angle, Nephropathy, Brachydactyly |
OMIM:247410 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiphyses of the p... |
OMIM:615630 |
Larsen-Like Syndrome |
|
Joint dislocation, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5... |
OMIM:608545 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Hepatocellular carcinoma, Re... |
OMIM:619902 |
Shox-Related Short Stature |
|
Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb under... |
ORPHA:314795 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... |
ORPHA:974 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation, Hydronephrosis |
OMIM:614846 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Sandal gap, Short stature, Hypospadias, Cryptorchidism, Small hand, Short foot, Hypogonadism, Del... |
OMIM:300354 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Hallux valgus, Swan neck-like deformities of the fingers, Metopic synostosis, Ulnar deviated club... |
OMIM:619880 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... |
OMIM:175700 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Clinodactyly |
ORPHA:1445 |
Rhyns Syndrome |
|
Renal insufficiency, Radial bowing, Short stature, Chronic kidney disease, Short long bone, Short... |
OMIM:602152 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly |
OMIM:619981 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubular acidosis, ... |
OMIM:614922 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short toe, Short metatarsal, Hypogonadism, Short finger, Low uri... |
OMIM:103580 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly, Hypospadias |
ORPHA:1296 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Hypospadias, P... |
ORPHA:1896 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... |
OMIM:276820 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench f... |
OMIM:618870 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Oculomaxillofacial Dysostosis |
|
Abnormality of the humerus, Adducted thumb, Camptodactyly of finger, Brachydactyly |
ORPHA:1794 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus hernia |
ORPHA:101009 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Delayed closure of the anterior fontanelle, Postnatal growth retardation, Upper li... |
ORPHA:231140 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney, Duodenal at... |
OMIM:603467 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, ... |
OMIM:300219 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly |
ORPHA:357175 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cleft palate |
OMIM:302905 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Cleft palate, Renal cyst, Micropenis, Bifid uvula |
OMIM:614175 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Clinodactyly, Single transverse palmar crease |
ORPHA:178148 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormal join... |
ORPHA:3130 |
Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Short metacarpal, Radial bowin... |
OMIM:108720 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, Ovarian ne... |
ORPHA:83469 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Dispr... |
ORPHA:2655 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Castleman Disease |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal o... |
ORPHA:160 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne... |
OMIM:314390 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,... |
ORPHA:2092 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly |
OMIM:614838 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Short stature, Abnormal metatarsal morphology, Cryptorchidism, R... |
ORPHA:163654 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Flat capital fe... |
OMIM:612350 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Metaphyseal widenin... |
OMIM:224400 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias |
ORPHA:1355 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Renal dysplasia, Situs inversus totalis |
OMIM:615985 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Displacement of the urethral meatus, Intestinal malrotation |
ORPHA:2301 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Prim... |
ORPHA:65681 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
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 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Short stature, Single transverse palmar crease, Growth delay, Camptodactyly, Intrauterine growth ... |
OMIM:613604 |
Opsismodysplasia |
|
Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnor... |
ORPHA:2746 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to... |
ORPHA:1327 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction, Clitoral hypertrophy |
OMIM:150700 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Three M Syndrome 3 |
|
Short stature, Growth delay, Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Pr... |
OMIM:614205 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ... |
OMIM:601186 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia |
ORPHA:171866 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... |
OMIM:617247 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, High palate, Renal hypoplasia |
OMIM:619053 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... |
OMIM:620099 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Short distal phalanx of the 5th finger, Cl... |
OMIM:620073 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypospadias |
OMIM:618330 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Ectopic anus, High palate |
ORPHA:1703 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Mohr Syndrome |
|
Syndactyly, Wormian bones, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphys... |
OMIM:252100 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Duodenal atresia |
OMIM:617784 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th... |
ORPHA:137834 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Anal atresia |
OMIM:276950 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Recurrent urinary tract infections, Bilateral single transverse palmar creases... |
ORPHA:502 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Short stature, Metatarsus adductus, Postnatal growth retardation, Cryptorchidism,... |
OMIM:612513 |
Intellectual Disability, Wolff Type |
|
Cryptorchidism, Hypospadias, Abnormal intestine morphology |
ORPHA:3080 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Cryptorchidism, Congenital posterior urethral valve, Tal... |
OMIM:100100 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Clinodactyly, Ulnar deviation of the wrist, Unilambdoid synostosis |
OMIM:618577 |
Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Hypospadias |
ORPHA:2261 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchid... |
OMIM:301056 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma... |
ORPHA:3447 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Abnormality of the elbow, Hip dislocation, Moderate post... |
ORPHA:1005 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly |
OMIM:615162 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Split hand, Clubbing, Growth delay, Micropenis |
OMIM:600460 |
15Q24 Microdeletion Syndrome |
|
Short stature, Hypospadias, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe ... |
ORPHA:94065 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Hypospadias, Abnormal epiphysis morphology, S... |
ORPHA:1784 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Pentalogy Of Cantrell |
|
Hypospadias, Renal agenesis, Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the rad... |
ORPHA:1335 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification... |
ORPHA:93346 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha... |
ORPHA:2994 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila... |
OMIM:108145 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Umbilical hernia, Mi... |
ORPHA:2872 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Feed... |
ORPHA:261265 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality ... |
ORPHA:1770 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Abnor... |
ORPHA:227 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Clinodactyly of the 5th finger, Short distal phalanx of finger, Bra... |
ORPHA:2163 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Unilateral ren... |
OMIM:101800 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Toe syndactyly, Short stature, Abnormality of the kidney, S... |
ORPHA:391641 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Brach... |
ORPHA:1305 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Hypospadias, Wormian bones, Decreased fibular diameter, Flared met... |
OMIM:616897 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... |
ORPHA:3103 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala... |
OMIM:609465 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Hydronephrosis, Brach... |
OMIM:618950 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... |
ORPHA:896 |
Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Rhizomelia, Single transverse palmar crease, Short stature, Hypospadias, Pos... |
OMIM:611209 |
Codas Syndrome |
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Short metacarpal, Congenital hip dislocation, Short stature, Hydroureter, Abnormal pelvic girdle ... |
ORPHA:1458 |
Qazi-Markouizos Syndrome |
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Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
Grant Syndrome |
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Wormian bones, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Bladder Exstrophy And Epispadias Complex |
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Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Wolfram Syndrome 1 |
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Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Growth delay... |
OMIM:222300 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Cle... |
OMIM:244200 |
Cystic Hamartoma Of Lung And Kidney |
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Multicystic kidney dysplasia |
ORPHA:2111 |
Alg6-Cdg |
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Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
10Q22.3Q23.3 Microduplication Syndrome |
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Ambiguous genitalia, Tetralogy of Fallot, Hypospadias |
ORPHA:276422 |
W Syndrome |
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Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... |
ORPHA:2804 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Femoral-Facial Syndrome |
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Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Cleft pala... |
ORPHA:1988 |
Craniosynostosis 2 |
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Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U... |
OMIM:604757 |
Bladder Exstrophy |
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Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Joubert Syndrome 16 |
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Renal cyst, Nephronophthisis |
OMIM:614465 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Cryptorchidism, Abnormality of the elbow, Short stature, Brachydactyly |
ORPHA:2701 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Wormian bones, Short stature, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphysis, M... |
OMIM:300232 |
Ciliary Dyskinesia, Primary, 50 |
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Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Tonne-Kalscheuer Syndrome |
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Decreased testicular size, Short stature, Hypospadias, Cryptorchidism, Growth delay, Micropenis, ... |
OMIM:300978 |
Trichothiodystrophy 1, Photosensitive |
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Intestinal obstruction, Chronic diarrhea, Hypogonadism, Malabsorption |
OMIM:601675 |
Lujan-Fryns Syndrome |
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Arachnodactyly, Camptodactyly of finger, Brachydactyly |
ORPHA:776 |
Dahlberg-Borer-Newcomer Syndrome |
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Renal insufficiency, Short stature, Nephropathy, Short distal phalanx of finger, Brachydactyly |
ORPHA:1563 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Popliteal pterygium |
ORPHA:1300 |
Opitz-Kaveggia Syndrome |
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Syndactyly, Broad hallux, Single transverse palmar crease, Short stature, Hypospadias, Delayed cl... |
OMIM:305450 |
Cornelia De Lange Syndrome 1 |
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Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala... |
OMIM:122470 |
Osteosclerosis With Ichthyosis And Fractures |
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Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Bent Bone Dysplasia Syndrome 1 |
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Bent long bone, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Brachydactyly |
OMIM:614592 |
Pseudohypoparathyroidism, Type Ic |
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Short metacarpal, Short stature, Short metatarsal, Hypogonadism, Low urinary cyclic AMP response ... |
OMIM:612462 |
Cantu Syndrome |
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Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Broad first metatarsal, Hypoplastic... |
OMIM:239850 |
Mucolipidosis Ii Alpha/Beta |
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Hypoplastic scapulae, Craniosynostosis, Coxa valga, Metaphyseal widening, Split hand, Hip disloca... |
OMIM:252500 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Otopalatodigital Syndrome Type 2 |
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Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... |
ORPHA:90652 |
Lambert Syndrome |
|
Hypospadias |
OMIM:245550 |
Acromesomelic Dysplasia 4 |
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Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Three M Syndrome 2 |
|
Scapular winging, Severe short stature, Short stature, Slender long bone, Short 5th finger, Promi... |
OMIM:612921 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly |
ORPHA:1514 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Cleft palate, Aortic valve stenosis, Hypoplastic left hea... |
OMIM:220210 |
Silver-Russell Syndrome |
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Sandal gap, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Upper limb ... |
ORPHA:813 |
Scapuloperoneal Spinal Muscular Atrophy |
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Scapular winging, Metatarsus adductus, Small hand, Scapular muscle atrophy, Hip dysplasia, Talipe... |
OMIM:181405 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Limited knee flexion, Calcaneovalgus deformit... |
OMIM:615065 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... |
OMIM:600785 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, High palate, Transposition of the g... |
ORPHA:1913 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... |
ORPHA:3097 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
Clark-Baraitser Syndrome |
|
Clinodactyly, Sandal gap |
OMIM:617752 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Short metacarpal, Short fourth metatarsal, Overlapping toe, Short stature, Craniosynostosis, Femo... |
OMIM:616723 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Fus... |
OMIM:618469 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Heparan sulfate excretion in urine, Split hand, Dermatan sul... |
OMIM:309900 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
OMIM:616354 |
Acute Intermittent Porphyria |
|
Dark urine, Nausea and vomiting, Renal insufficiency, Dysuria, Urinary incontinence, Abdominal pa... |
ORPHA:79276 |
Otoonychoperoneal Syndrome |
|
Hypospadias |
OMIM:259780 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformity, Severe postnatal growth... |
ORPHA:3078 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Co... |
ORPHA:73246 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Cleft pala... |
ORPHA:2075 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short stature, Primary amenorrhea, Cubitus valgus, Brachydactyly |
ORPHA:247768 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... |
OMIM:613684 |
Osteoglosphonic Dysplasia |
|
Severe short stature, Rhizomelia, Craniosynostosis, Cryptorchidism, Brachydactyly |
ORPHA:2645 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Clinodactyly, Brachydactyly |
OMIM:617808 |
Porphyria Variegata |
|
Neurogenic bladder, Abdominal pain, Chronic kidney disease, Ileus, Porphyrinuria, Increased urina... |
ORPHA:79473 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hypogonadotropic hypogonadism, Hyd... |
OMIM:604292 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Gastroi... |
ORPHA:900 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anal stenosis, Cry... |
ORPHA:2052 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Vomiting, Abnormal intestine mor... |
OMIM:226300 |
12Q14 Microdeletion Syndrome |
|
Intestinal malrotation, Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho... |
ORPHA:93324 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis |
OMIM:616541 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Hydronephrosis, Sex reversal, Gonadal dy... |
OMIM:154230 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Short stature, Hypoplastic ilia, Cryptorchidism, P... |
ORPHA:85201 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Feeding difficulties, Tubu... |
OMIM:617595 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Knee f... |
OMIM:616266 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Feeding difficulties, Anteriorly pl... |
OMIM:615546 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Short stature, Camptodactyly of finger, Hypospadias, Renal hypopl... |
ORPHA:568 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Short stature, Proteinuria, Chronic kidney disease, ... |
OMIM:208500 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Mesomelia, Camptodactyly, Prominent fingertip pads, Clinodactyly, Broad... |
OMIM:618529 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Short stature, Prominent metopic ridge, Tapered finger, Uret... |
ORPHA:261290 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Vomiting, Gastroesophagea... |
OMIM:270400 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Short stature, Hydronephrosis |
OMIM:620141 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... |
OMIM:107480 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Abdominal pain, Malab... |
ORPHA:131 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Short stature, Craniosynostosis, Metaphyseal chondrodysplasia, C... |
ORPHA:166035 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly |
OMIM:614526 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Unilateral renal hypoplasia |
OMIM:619955 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Hypospadias, Feeding difficulties in infancy, Renal hypoplasia, Anteriorly placed ... |
ORPHA:314679 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosi... |
OMIM:218350 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Short stature, Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphol... |
ORPHA:101000 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Unilateral cryptorchidism, Postnatal growth retardation, Small hand, A... |
OMIM:616489 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Short stature, Split hand, Mucopolysacchariduria, Abnormal epiphysis morpholog... |
ORPHA:579 |
Shigellosis |
|
Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Intestinal perforation, Peritonitis, Urethri... |
ORPHA:810 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Renal hypoplasia/... |
ORPHA:3015 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Premature osteoarthritis, Flared metap... |
OMIM:215150 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Abnormality of the kidney, Micromelia, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:93274 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Hall-Riggs Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2107 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Congenital Disorder Of Glycosylation, Type Id |
|
Long fingers, Talipes equinovarus, Clinodactyly, Joint contracture of the hand, Clinodactyly of t... |
OMIM:601110 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Renal cyst, Proximal tubulopathy, Vomiting, Protein-losing enteropathy... |
OMIM:602579 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Short stature, Craniosynostosis, Cryptorchidism, Growth delay, Hydronephrosis, Brachydactyly |
ORPHA:457193 |
Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly |
OMIM:272440 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of ... |
ORPHA:1358 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Short phalanx of finger, Typ... |
OMIM:600430 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Small hand, Short foot, Clinodactyly |
OMIM:618089 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Craniosynostosis, Metaphyseal chondrodysp... |
OMIM:250410 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Short stature, Hypospadias, Cryptorchidism, Small hand, Short p... |
ORPHA:1786 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Spina bifida occulta, Hypospadias |
OMIM:101805 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and ... |
ORPHA:1190 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... |
DECIPHER:81 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Proteinuria, Micromelia, Ulnar bowing, Nephropathy, Madelung deform... |
ORPHA:1765 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... |
OMIM:302960 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly |
OMIM:602501 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue... |
OMIM:616300 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular... |
OMIM:618162 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th finger, Joint... |
OMIM:618914 |
Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav... |
ORPHA:370930 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r... |
OMIM:268310 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly |
OMIM:618381 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Cryptorchidism, Meningo... |
ORPHA:3376 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Short stature, Spatulate thumbs, Elbow dislocation, Cryptorch... |
OMIM:150250 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Aredyld Syndrome |
|
Short stature, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Intrauterine gr... |
ORPHA:1133 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Dilatation of the renal pelvis, Hors... |
ORPHA:314588 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea... |
OMIM:305400 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Prominent metopic ridge, Clinodactyly |
OMIM:620316 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Single transverse palmar crease, Postnatal growth retardation, Camptod... |
ORPHA:254528 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... |
OMIM:614800 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Short stature, Metaphyseal widening, Split hand, Disproportionate short-tru... |
OMIM:253200 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Feeding difficulties, ... |
OMIM:618454 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re... |
OMIM:613680 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular septal defect, Ovotestis, Pul... |
OMIM:611812 |
Specific Granule Deficiency 2 |
|
Sandal gap, Brachydactyly |
OMIM:617475 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Abdominal disten... |
ORPHA:93271 |
Schilbach-Rott Syndrome |
|
Clinodactyly, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly |
OMIM:164220 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Feeding difficulties in infancy, Poor suck, Polycystic kidney dysplasia |
OMIM:614859 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney |
OMIM:609053 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviation of the hand... |
OMIM:218600 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Genu valgum, Cli... |
OMIM:620072 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Short middle ... |
OMIM:180860 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Feeding difficulties in infancy, Cry... |
OMIM:261540 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Slender long bone, Micropenis, Brachydactyly |
OMIM:602361 |
X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of upper limbs, Calcaneovalgus deformity |
ORPHA:93952 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Growt... |
OMIM:619269 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Feeding difficulties, Anteriorly placed anus, High palate, Anal at... |
OMIM:601390 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias |
ORPHA:141333 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... |
ORPHA:281090 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Abnormality of the upper urinary tract, Elbow dislocation, Posta... |
ORPHA:2916 |
Coffin-Siris Syndrome 2 |
|
Sandal gap, Short stature, Cryptorchidism, Intrauterine growth retardation, Short distal phalanx ... |
OMIM:614607 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Growth delay, Ectrodactyly, Micropenis |
OMIM:615465 |
Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... |
OMIM:615789 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Cryptorchidism, Vesicoureteral reflux, Short... |
ORPHA:250989 |
Smith-Magenis Syndrome |
|
Short stature, Abnormal renal morphology, Broad palm, Abnormality of the urinary system, Short pa... |
OMIM:182290 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Antecubital pterygium, Aplasia/hypoplasia ... |
ORPHA:40366 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... |
ORPHA:411709 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Aplasia of the ovary |
OMIM:614324 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val... |
OMIM:618150 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Edema, Malabsorption, Abnormal vagina morphology,... |
ORPHA:2315 |
Temtamy Syndrome |
|
Short 2nd toe, Hip dislocation, Talipes equinovarus, Brachydactyly |
OMIM:218340 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Bra... |
ORPHA:377 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Atrial septal defect, Atrioventric... |
OMIM:265380 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Split hand, Hammertoe, Hyporeflexia of upper limbs, Jo... |
ORPHA:90658 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Clubbing of toes, Multiple re... |
ORPHA:1318 |
Campomelic Dysplasia |
|
Bowing of the long bones, Short stature, Small abnormally formed scapulae, Hip dislocation, Fibul... |
ORPHA:140 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Finger syndactyly, Multicystic kidney dysplasia... |
ORPHA:818 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Brachydactyly |
ORPHA:2180 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias |
ORPHA:2115 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Clinodactyly, Broad thumb, Long hallux |
OMIM:620194 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacarpals, Short ... |
OMIM:166250 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... |
OMIM:300707 |
Omodysplasia 2 |
|
Short humerus, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic distal humeri, Rh... |
OMIM:164745 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short stature, Multicystic ki... |
ORPHA:1001 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... |
ORPHA:783 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, In... |
ORPHA:7 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hypospadias |
OMIM:301045 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Feeding difficulties in infancy, Crypto... |
ORPHA:912 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... |
ORPHA:261344 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Nephrolithiasis |
ORPHA:1816 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Parachute mitral valve, Intestinal ... |
OMIM:618316 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Endometriosis, Unilat... |
ORPHA:363444 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Short metatarsal, Small hand, Oligozoospermia, Cone-... |
OMIM:614813 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Abdominal distention, Urethral atresia, Aplasia of the vagina, Aplasia... |
OMIM:271520 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:2013 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho... |
ORPHA:95699 |
Adult Syndrome |
|
Split foot, Toe syndactyly, Split hand |
OMIM:103285 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Hypospadias, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:2508 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Bifid uvula, Submucous cleft hard palate, Renal hypoplasia |
OMIM:617660 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:500159 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli... |
OMIM:305600 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Hypoplasia of the ovary, Micropenis,... |
OMIM:619321 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cleft palate, Aplasia of the bladder, ... |
OMIM:612284 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Abnormality of the kidney, Abnormal pulmonary valve morphology, Cryptorchidism, 3-Me... |
ORPHA:1194 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arter... |
OMIM:617516 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Short stature, Single transverse palmar crease, Rocker b... |
OMIM:272950 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Large hands, Abnormal metacarpal mor... |
ORPHA:3219 |
Intellectual Disability, Buenos-Aires Type |
|
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Short stature, Hydronephr... |
ORPHA:3079 |
Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Cubitus valgus, Brachydactyly |
OMIM:620237 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Severe short stature, Monorchism, Camptodactyly of finger, ... |
ORPHA:2753 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Edema, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Umbi... |
ORPHA:2505 |
Distal Deletion 10Q |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad... |
ORPHA:96148 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal u... |
ORPHA:913 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Short stature, Hypospadias, Postnatal growth retardation, Hi... |
OMIM:273750 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
ORPHA:77298 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi... |
OMIM:601346 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Abdominal distention, Abnormal renal morphology, High palate, Abnormality of the ... |
ORPHA:1655 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Vesicoureteral reflux, Clinodactyly, Short distal phalanx of finger, Brachydactyly |
OMIM:614261 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Glomerulonephritis, Ileus |
OMIM:304790 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:301830 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasi... |
ORPHA:2874 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Trisomy 4P |
|
Cryptorchidism, Hypospadias |
ORPHA:1738 |
Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Poor a... |
ORPHA:100079 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Patent ductus arteriosus, Rectal prolapse, Aden... |
ORPHA:79076 |
Hydatidiform Mole |
|
Nausea and vomiting, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Partial duplication of thumb phal... |
OMIM:618348 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb |
OMIM:239710 |
Nephrotic Syndrome, Type 11 |
|
Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly |
OMIM:616730 |
Craniofacioskeletal Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Small hand, Short foot, Short palm, Clinodactyly of t... |
OMIM:300712 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc... |
OMIM:309350 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Cubitus valgus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Hamartomatous polyposis, Ova... |
OMIM:175200 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Opitz Gbbb Syndrome |
|
Hypospadias, Ventricular septal defect, Rectourethral fistula, Cryptorchidism, Cleft palate, Cong... |
OMIM:300000 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones |
ORPHA:1323 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Abnormal fingertip morphology |
ORPHA:529965 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma... |
ORPHA:1798 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Feeding difficulties in... |
OMIM:257300 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,... |
ORPHA:3082 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, S... |
OMIM:170390 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Testicular mass, ... |
ORPHA:457083 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot... |
ORPHA:488642 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypospadias |
OMIM:179250 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion con... |
OMIM:601559 |
Short-Rib Thoracic Dysplasia 12 |
|
Intestinal malrotation, Hamartoma of tongue, Renal hypoplasia, Lobulated tongue, Protuberant abdo... |
OMIM:269860 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplastic ilia, Flared metaphysi... |
OMIM:615349 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, Sagittal cranio... |
OMIM:614099 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Deep plantar creases, Abnormal... |
ORPHA:1517 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia |
ORPHA:3301 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypospadias |
ORPHA:1548 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Cryptorchidism, Pylori... |
ORPHA:261494 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Short stature, Hypospadias, Craniosynostosis, Absent thumb, Cryptorchidis... |
ORPHA:96097 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Ulnar ... |
OMIM:211750 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Abnormal renal morphology, Cleft palate, Abnormal heart morphology, Anteri... |
OMIM:239300 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Short stature, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal s... |
ORPHA:35173 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Vascular dilatation, Rectal prolapse, Pyloric stenosis, Gastroesophageal reflu... |
OMIM:613177 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Aminoaciduria, High palate, Renal arter... |
OMIM:617913 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, 3-Methylglutar... |
OMIM:610198 |
Zechi-Ceide Syndrome |
|
Sandal gap, Short metatarsal, Short distal phalanx of finger |
OMIM:612916 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Small hand, Talipes equinovarus, Camptodactyly |
OMIM:619980 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Clinodactyly, Short 5th finger, Hypoplasia of the capital femoral epiphysis |
ORPHA:557003 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... |
ORPHA:314585 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Abnormality of the knee, Broad hallux, Postnatal growth retardation, C... |
ORPHA:251028 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Taper... |
ORPHA:261349 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S... |
ORPHA:77258 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Bilateral single transv... |
OMIM:618804 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Brachydactyly |
OMIM:619995 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Horseshoe kidney, C... |
ORPHA:99776 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Hypospadias, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum |
ORPHA:2575 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou... |
OMIM:606408 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis... |
OMIM:308750 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... |
ORPHA:93929 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cy... |
ORPHA:400 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... |
OMIM:615300 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Umbilica... |
OMIM:617751 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the... |
ORPHA:1234 |
Rin2 Syndrome |
|
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Brachydactyly |
ORPHA:217335 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Intestinal malrotation, Oligohydramnios, Fetal megacystis, Generalized edema |
OMIM:249210 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hypogonadotropic hypogonadism, Hyd... |
OMIM:129900 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slende... |
OMIM:613805 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... |
OMIM:201810 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Drumstick terminal phalanges, Growth delay, Intrauterine growth ret... |
ORPHA:541423 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Nep... |
ORPHA:99880 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
Temple Syndrome |
|
Short foot, Clinodactyly, Small hand |
OMIM:616222 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... |
OMIM:614701 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal... |
OMIM:219000 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Hajdu-Cheney Syndrome |
|
Short stature, Hypospadias, Cryptorchidism, Osteolytic defects of the phalanges of the hand, Foot... |
OMIM:102500 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Long fingers, Cryptorchidism, Patellar dislocation, Finger joint hyper... |
OMIM:617557 |
Radial Aplasia, X-Linked |
|
Penile hypospadias, Anal atresia |
OMIM:312190 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Renal insufficiency, Nephrocalcinosis, Paraly... |
OMIM:276700 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camptodactyly, Uln... |
ORPHA:562528 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Vesicoureteral reflux, ... |
ORPHA:96061 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse palmar crease, Pro... |
OMIM:210600 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Coxa valga, Tapered finger, Postnatal growth retardation, Cryptorchi... |
OMIM:301040 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Talipes equinovarus |
OMIM:616789 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Postnatal growth retardation, Short foot, Growth d... |
OMIM:257920 |
Ruijs-Aalfs Syndrome |
|
Clinodactyly, Down-sloping shoulders, Elbow flexion contracture, Single transverse palmar crease |
OMIM:616200 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Short stature, Cryptorchidism, Partial duplication of thumb phalanx, Partial dupli... |
OMIM:616331 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly |
OMIM:603585 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal agenesis, Preaxial hand polydactyly, Intrauter... |
ORPHA:1297 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Preaxial hand... |
ORPHA:261318 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:192445 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... |
ORPHA:1452 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Aplastic clavicle, Osteolytic defects of the distal phalange... |
OMIM:265800 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Abnorma... |
ORPHA:2021 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function |
OMIM:600666 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc... |
OMIM:618975 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th... |
OMIM:192350 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Cryptorchidism, Abnormal heart morphology, Umbilical hernia |
OMIM:601499 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Aplasia of the phalanges of the 3rd toe |
ORPHA:2229 |
D-Bifunctional Protein Deficiency |
|
Split hand, Renal cyst, Hammertoe, Talipes equinovarus, Delayed cranial suture closure |
OMIM:261515 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Nep... |
ORPHA:143 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Short stature, Arachnodactyly, Hypospadias, Cryptorchidis... |
ORPHA:96169 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Constipation, Vomiting |
ORPHA:32960 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Prominent fingertip pads, Clinodactyly, Single transverse palmar crease |
ORPHA:391372 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:168558 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Postnatal growth retardation, ... |
ORPHA:96179 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Short stature, Renal agenesis, Renal hypoplasia/aplasia, Bilat... |
ORPHA:2754 |
Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Feeding difficulties, Chronic constipation, Hyperechogenic kidneys, E... |
OMIM:619695 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Postnatal growth retardation, Short long bone, Short palm, Intrauterine growth retar... |
OMIM:619184 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Hypospadias, Ventricular septal d... |
ORPHA:1708 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, A... |
ORPHA:2461 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... |
ORPHA:2886 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic... |
OMIM:608836 |
Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ... |
ORPHA:1512 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Feeding difficulties, Dysphagia, Vesicoureter... |
OMIM:618460 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Esophageal varix, Stage 5 chroni... |
OMIM:216360 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hypoplastic ischia, Bowing of the legs, Metopic depression, Short clavicles, Steep acetabular roo... |
ORPHA:313855 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short foot, Clinodactyly, Small hand |
ORPHA:96184 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, 2-3 toe syndactyly... |
OMIM:617061 |
Orthostatic Hypotension 1 |
|
Retrograde ejaculation, Nocturia, Brachydactyly |
OMIM:223360 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:289548 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,... |
ORPHA:1292 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Short stature, Hypergonadotropic hypogonadism, Coxa valga, Short metatarsal, Cu... |
OMIM:248800 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... |
ORPHA:2636 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Short stature, Abnormality of thumb ... |
ORPHA:235 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Ileus, Secretory diarrhea, Tubulointerstitial nephritis, Nephrotic synd... |
ORPHA:37042 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Delayed closure of the anterior fontan... |
ORPHA:96182 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Lo... |
ORPHA:230851 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Postnatal growth retardation, Cryptorchidism, Ulnar bowing, Shortening of... |
OMIM:619135 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Isolated Epispadias |
|
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... |
ORPHA:93928 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper... |
OMIM:308700 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Intestinal malrotation, Renal cyst |
OMIM:603194 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Postnatal growth retardation, Disproportionate short-trunk short stature,... |
OMIM:313400 |
Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Proximal placement of thumb |
OMIM:617883 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Deviation of th... |
ORPHA:464738 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:619314 |
Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly |
OMIM:618027 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cryptorchidism, Intrauterine growth retardation, Brachydactyly, Drumstick terminal phalanges |
OMIM:612938 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Short stature, Cryptorchidism, Hip dislocation, Hyposthenuria, Vesicoureteral... |
OMIM:615926 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hy... |
OMIM:300968 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Palpebral edema, Hypospadias |
ORPHA:79350 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Fibular hypoplasia, ... |
OMIM:258315 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Clinodactyly, Scapular winging, Down-sloping shoulders, Tapered finger |
OMIM:615560 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormal morphology of female internal ge... |
ORPHA:991 |
Insulin-Like Growth Factor I Deficiency |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Postnatal growth retardation, Sh... |
OMIM:608747 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Diarrhea, Ileus, Hypercalciuria, Steatorrhea, ... |
OMIM:219700 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Cutaneous syndactyly, Talipes equinovarus, Camptodactyly, Hand clenching, Overla... |
OMIM:617822 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... |
ORPHA:3255 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Ovarian neoplasm, Co... |
ORPHA:157798 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Epispadias, Genu... |
OMIM:225500 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly |
OMIM:619123 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Intestin... |
OMIM:229850 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Renal hy... |
ORPHA:2166 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Poor suck, Clitoral hyp... |
OMIM:214110 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Arachnodactyly, Hypospadias, Short hallux, Abnormality of the kidney, Sh... |
ORPHA:280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Short stature, Cryptorchidism, Short foot, Large hands, Talipes equino... |
OMIM:300534 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic ca... |
ORPHA:251071 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Intellectual Developmental Disorder, X-Linked 99 |
|
Gastroesophageal reflux, Hypospadias, Ectopic kidney |
OMIM:300919 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes |
ORPHA:1248 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Micrognathia, Long fingers, Talipes equinovarus, Clinodactyly of t... |
ORPHA:3309 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hall... |
OMIM:194190 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Hydronephrosis... |
OMIM:243605 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unilateral renal agene... |
OMIM:616737 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Bowel in... |
ORPHA:567 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... |
OMIM:178110 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Cryptorchidism, Genu valgum, Growth delay, Micropenis, Hydronephrosis |
OMIM:617798 |
Greenberg Dysplasia |
|
Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger... |
OMIM:215140 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Short... |
OMIM:615656 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Arthritis |
OMIM:613328 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Aprosencephaly Syndrome |
|
Hand oligodactyly |
OMIM:207770 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Increased density of long bones, Single transverse palmar crease, Hypospadias,... |
OMIM:269150 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Joint dislocation, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus cal... |
ORPHA:536532 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Knee f... |
ORPHA:2920 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... |
OMIM:271640 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:1762 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Deep palmar crease, Displacement of... |
ORPHA:1752 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Renal cyst |
OMIM:611561 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition... |
ORPHA:1727 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo... |
ORPHA:199 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala... |
OMIM:113650 |
14Q22Q23 Microdeletion Syndrome |
|
Cryptorchidism, Small scrotum, Renal hypoplasia |
ORPHA:264200 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Short stature, Rocker bottom foot, Hypospadias... |
ORPHA:163979 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Decreased scrotal rugation, Abnormal cardiac ventr... |
ORPHA:261311 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Feeding difficulties in infancy, Bilateral cleft lip and palate, Ch... |
OMIM:618829 |
Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... |
ORPHA:672 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Short palm, Clinodactyly, Brachydactyly |
OMIM:217980 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Recurrent urinary tract infections, Prominent metopic ridge, Short stature, Cry... |
OMIM:610443 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Hydronephrosis |
OMIM:618578 |
19P13.3 Microduplication Syndrome |
|
Long fingers, Hip dislocation, Hip dysplasia, Clinodactyly, Hip subluxation |
ORPHA:447980 |
Cinca Syndrome |
|
Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd... |
ORPHA:1451 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Short stature, Hypergonadotropic hypogonadism, Short me... |
ORPHA:79444 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ... |
OMIM:136140 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Renal hypoplasia, Bloody diarrhea, Colitis, Polycysti... |
ORPHA:84064 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb |
ORPHA:1439 |
Monosomy 18P |
|
Brachydactyly |
ORPHA:1598 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypospadias |
ORPHA:2252 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal loca... |
ORPHA:819 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposi... |
ORPHA:447877 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Short stature, Abnormality of the kidney... |
ORPHA:847 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... |
OMIM:270420 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... |
ORPHA:915 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Long fingers, Cryptorchidism, Hip dislocation, Abnormality of the urin... |
ORPHA:96092 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Polyhydramnios, Edema of the dorsum of hands, Dysphagia, Micropenis |
ORPHA:171430 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Fe... |
OMIM:212065 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... |
ORPHA:371428 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Hypo... |
OMIM:619488 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Short stature, Urinary incontinence, Urinary urgency, Abnormal pelvic girdle bone morphology, Car... |
OMIM:601162 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, High palate, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, En... |
ORPHA:2745 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalanges of the han... |
ORPHA:73230 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
Rhombencephalosynapsis |
|
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619680 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Congenital hip dislocation, Short stature, Tapered finger, Delayed epiphyseal ossification, Flare... |
OMIM:616007 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Wo... |
OMIM:616603 |
Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Hip dislocation, Horseshoe kidney, Short 5th finger,... |
OMIM:300867 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Cleft palate, Hypoplasia of ... |
OMIM:309801 |
Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate |
ORPHA:66629 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Prominent metopic ridge, Abnormality of the kidney, Tapered finger, Long fingers, Calcaneovalgus ... |
ORPHA:521445 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Postna... |
OMIM:263750 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
ORPHA:397709 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Hemoglobinuria, A... |
ORPHA:90038 |
Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Short stature, Micromelia, Hydronephrosis, Neonatal death,... |
OMIM:259775 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, High palate, Renal hypoplasia |
ORPHA:37553 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Clinodactyly, Single transverse palmar crease |
ORPHA:73272 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly |
OMIM:608624 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Renal insufficiency, Gastrointestinal hemorrhage, Dys... |
ORPHA:537 |
Rapadilino Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Absent thumb |
OMIM:266280 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Abnormal morphology of femal... |
ORPHA:2311 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Hypospadias |
ORPHA:544254 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Disproportionate short stature, Coxa vara, Narrow pelvis bone, Abnormal epiphysis mor... |
ORPHA:2637 |
Luscan-Lumish Syndrome |
|
Short stature, Advanced ossification of carpal bones, Irregular menstruation |
OMIM:616831 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Craniosynostosis, Preaxial hand polydactyly, Enlarged m... |
ORPHA:508533 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst, Steatorrhea, Fat malabsorption, Hepatic failure |
ORPHA:79303 |
Meckel Syndrome 14 |
|
Abdominal distention, Aplasia of the uterus, Protuberant abdomen, Ambiguous genitalia, Polycystic... |
OMIM:619879 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Polyhydramnios |
OMIM:619334 |
Hereditary Xanthinuria |
|
Crystalluria, Arthropathy, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinu... |
ORPHA:3467 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Severe short stature, Hypospadias, Cryptorchidism, Epis... |
ORPHA:2588 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Tapered finger, Ankle flexion contracture, Cryptorchidism... |
ORPHA:464311 |
Alg8-Cdg |
|
Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Floating-Harbor Syndrome |
|
Enlarged joints, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Sh... |
ORPHA:2044 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... |
ORPHA:93932 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, Femoral retroversion,... |
OMIM:610682 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Capitate-h... |
OMIM:304150 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Abnormality of th... |
ORPHA:2273 |
Kleefstra Syndrome 1 |
|
Hypospadias, Single transverse palmar crease, Cryptorchidism, Abnormal renal morphology, Talipes ... |
OMIM:610253 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly |
ORPHA:60040 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition o... |
OMIM:313850 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux |
OMIM:619793 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Feeding difficulties in infancy, Renal cyst |
OMIM:614862 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Feeding difficulties, Pelvic kid... |
ORPHA:508498 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, High palate, Gastroesophag... |
ORPHA:363528 |
Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Male hypogonadism, Decreased testicu... |
ORPHA:163971 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Vesicoureteral reflux, Micro... |
OMIM:618653 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Short stature, Single transverse palmar crease, Proximal placement of thumb, Limi... |
OMIM:610759 |
Martsolf Syndrome 1 |
|
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... |
OMIM:212720 |
Al Kaissi Syndrome |
|
Clinodactyly, Deep palmar crease, Small hand |
OMIM:617694 |
Noonan Syndrome 13 |
|
Prominent metopic ridge, Overlapping toe, Tapered finger, Metatarsus adductus, Bilateral talipes ... |
OMIM:619087 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Feeding difficu... |
OMIM:135900 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Clinodactyly, Abnormality of the hand, Camptodactyly |
ORPHA:369891 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Gastroesophage... |
ORPHA:494344 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Hypospadias, Unilateral renal agene... |
ORPHA:464306 |
Insulin-Like Growth Factor I, Resistance To |
|
Sandal gap, Small hand, Short foot, Radial deviation of finger, Short finger, Clinodactyly |
OMIM:270450 |
Seckel Syndrome 2 |
|
Microglossia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature... |
OMIM:600373 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Polyhydramnios, Edema, Cryptorchidism, Patent ductus arteriosus, Micr... |
OMIM:607143 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Tapered finger, Cryptorc... |
ORPHA:2953 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Short stature, Rena... |
OMIM:180700 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal dysplasia, Renal insufficiency, Abnormal acetabulum morphology, Short stature, Hypospadias,... |
ORPHA:397715 |
Frontorhiny |
|
Finger clinodactyly, Camptodactyly of finger, Brachydactyly |
ORPHA:391474 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bottom foot, Me... |
OMIM:214100 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Short stature, Adducted thumb, Growth delay, Overlapping fingers, Hydronephro... |
OMIM:608779 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Bifid scrotum, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Penoscrotal ... |
OMIM:619148 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... |
ORPHA:90794 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Down-sloping shoulders, Deviation of the 5th toe, Slender toe, Clinodactyly, Slender finger |
ORPHA:391408 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short stature, Postnatal growth retardation, Short prox... |
ORPHA:261323 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Dilated cardiomyo... |
ORPHA:2556 |
Renpenning Syndrome 1 |
|
Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, High palate, Poor suck, Decreased testicul... |
OMIM:309500 |
Cystic Fibrosis |
|
Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesoph... |
ORPHA:586 |
Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Hypogonadism, Microcolon |
ORPHA:163746 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En... |
OMIM:608978 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
OMIM:610954 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Prominent calcaneus, Ankle clonus, Intrauterine growth retardation |
ORPHA:565624 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Shortening of all distal phalanges of the fingers, Growth delay, Hip dysplasia, Clinodactyly, Hyd... |
ORPHA:247262 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Decreased ferti... |
ORPHA:870 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
Trichorhinophalangeal Syndrome, Type I |
|
Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Swelling... |
OMIM:190350 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate |
OMIM:615398 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ... |
OMIM:605130 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Brachydactyly |
OMIM:620156 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... |
OMIM:616843 |
Trisomy 18 |
|
Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Cryptorchidism, P... |
ORPHA:3380 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Micrognathia, Bilateral triphalangeal thumbs, Short distal phalanx o... |
OMIM:619356 |
Lowry-Maclean Syndrome |
|
Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,... |
ORPHA:2409 |
Fg Syndrome 5 |
|
Hypospadias |
OMIM:300581 |
Acrocallosal Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:36 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb |
ORPHA:139471 |
Coffin-Lowry Syndrome |
|
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Large hands,... |
ORPHA:192 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, ... |
OMIM:617053 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Hypospadias |
OMIM:618688 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Absence of the pulmonary valve, Ventricular septal defect, Cryptorchidism, Patent du... |
OMIM:601808 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Premature ovarian insufficiency, Short stature, Hypergonadotropic hypogonadism, Hypospadias, Dela... |
ORPHA:2959 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Clinodactyly |
OMIM:618336 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in individual wi... |
ORPHA:90791 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Cleft palate, Urethr... |
OMIM:273395 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:620107 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Coarctation of ao... |
OMIM:617602 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Upper l... |
ORPHA:93315 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Fanconi Anemia |
|
High palate, Abnormality of the uterus, Atrial septal defect, Hypospadias, Spina bifida, Aplasia/... |
ORPHA:84 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Short stature, Hypospadias, Cryptorchidism,... |
OMIM:304110 |
Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G... |
ORPHA:904 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Wormian bones, Rhizomelia, Hypoplastic iliac wing, Small han... |
ORPHA:763 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Unilateral renal agenesis, Renal agenes... |
OMIM:308205 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Single transverse palmar crease, T... |
ORPHA:444072 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly |
OMIM:616449 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Camptodactyly of finger, Micromelia, Growth delay, Short palm, Brachydactyly |
ORPHA:2176 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Clinodactyly of the 5th ... |
OMIM:618143 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Short stature, Irregular, rachitic-like metaphys... |
ORPHA:289157 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Feeding difficulties, Nephrocalcinosis, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Enures... |
OMIM:619293 |
Kinsship Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux, Ankyloglossia |
OMIM:619297 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Clinodactyly, Camptodactyly, Tapered finger |
OMIM:619576 |
Warsaw Breakage Syndrome |
|
Single transverse palmar crease, Postnatal growth retardation, 2-3 toe syndactyly, Clinodactyly o... |
OMIM:613398 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Cryptorchidism, Submu... |
OMIM:619103 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Protruding tongue, Cryptorchidism, Renal hypoplasia, Macroglossia, Hy... |
OMIM:309580 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis |
ORPHA:178303 |
Distal Deletion 12Q |
|
Broad hallux, Single transverse palmar crease, Overlapping toe, Short stature, Unilateral cryptor... |
ORPHA:96149 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly |
ORPHA:2169 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Hypoplastic male external genitalia |
OMIM:608091 |
Noonan Syndrome 4 |
|
Ureteral duplication, Short stature, Cryptorchidism, Cubitus valgus, Hydronephrosis |
OMIM:610733 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Hyperextensibility of the knee, Palmoplantar hyperkeratosis, Tibial bowing, Short ... |
OMIM:601812 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Congenital pyloric atresia, Ab... |
ORPHA:158684 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Vomitin... |
OMIM:231680 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter... |
ORPHA:495875 |
Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Abnormal renal morphology, Intrauterine growth retardation, Cl... |
ORPHA:2209 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Precocious puberty, Anteriorly placed anus, Rectovagin... |
OMIM:608980 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos... |
OMIM:616580 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... |
OMIM:614080 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Cleft palate, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Hypospadias, Ventricular septal defect, Polyhydramnios, Bilater... |
OMIM:300998 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Capita... |
ORPHA:289 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Recurrent urinary tract infections, Renal insufficiency, Feeding difficultie... |
OMIM:194050 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Cleft palate |
OMIM:607361 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Bi... |
ORPHA:2729 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Dysphagia, Oligohydramnios |
OMIM:618253 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... |
OMIM:211350 |
Lethal Acantholytic Erosive Disorder |
|
4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 finger syndacty... |
ORPHA:158687 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Disproportionate shor... |
OMIM:619479 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Short stature, Hy... |
ORPHA:2322 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal... |
ORPHA:18 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Severe short stature, Hypospadias, Aplastic clavicl... |
ORPHA:2658 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Small hand, Short 4th metacarpal |
ORPHA:1787 |
Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Joint swelling, Abnormal epiphysis m... |
ORPHA:35687 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
Macs Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Single transverse palmar crease, Cryptorchidism, U... |
OMIM:613075 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p... |
ORPHA:99646 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias |
OMIM:615761 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell carcinoma, Multiple renal c... |
OMIM:193300 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:209900 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ... |
ORPHA:217346 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Ventricular septal defect, Cryptorchidism, Cleft palate, High palate, Gastroesopha... |
OMIM:617164 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Clinodactyly |
ORPHA:293939 |
Chime Syndrome |
|
Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ileus, Constipation |
ORPHA:52503 |
Acute Transverse Myelitis |
|
Gastroparesis, Urinary incontinence, Paralytic ileus, Urinary retention, Constipation, Abnormal l... |
ORPHA:139417 |
Meckel Syndrome, Type 4 |
|
Cleft palate, Renal cyst |
OMIM:611134 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Short thumb, Nephroblastoma |
OMIM:610832 |
Short Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3163 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urin... |
ORPHA:2995 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Cryptorchidism, Feeding difficulties, Renal hypoplasia, Exocrine pancreatic insufficiency |
OMIM:620005 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Gastrostomy tube feeding... |
ORPHA:457284 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Hypospadias |
OMIM:619759 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft palate, Micropenis, Vagin... |
OMIM:106260 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys... |
OMIM:220500 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Renal cyst, Poor suck, Cleft palate... |
OMIM:614866 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Renal hypoplasia, Bifid uvula, Bicornuate uterus, Dysphagia, Vesicour... |
ORPHA:2363 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Protuberant abdomen, Cysti... |
OMIM:608022 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Short stature, Cryptorchidism, Micropenis, Mesomelia, Camptodactyly, Vesicoureteral r... |
OMIM:616894 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly |
OMIM:614520 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Clinodactyly, Radial deviation of finger |
OMIM:609944 |
Transketolase Deficiency |
|
Secondary amenorrhea, Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Clinodactyly of the 5t... |
OMIM:619522 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Growth delay, Camptodact... |
OMIM:601353 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... |
ORPHA:284339 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Williams-Beuren Region Duplication Syndrome |
|
Cryptorchidism, Short stature, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism... |
ORPHA:500 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Diets-Jongmans Syndrome |
|
Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Interrupted inferior vena... |
OMIM:618846 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophag... |
OMIM:619859 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Ureteral duplication, Congenital hip dislocation, Toe syndactyly, Camptodactyl... |
ORPHA:373 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Short phalanx of finger |
OMIM:208060 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Short stature, Hypergonadotropic hypogonadism, Broad 1s... |
ORPHA:79443 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3... |
OMIM:601707 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Perineal hypospadias, Umbilical hernia, Mi... |
ORPHA:3134 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Proportionate short stature, Broad palm, Broad phalanges of the hand, Broad metaca... |
OMIM:277600 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Clinodactyly of the 5th finger, Syndactyly, Broad palm |
OMIM:618505 |
Osteogenesis Imperfecta |
|
Intestinal obstruction, Hypercalciuria, Nephrolithiasis, Constipation, Dysphagia |
ORPHA:666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Mic... |
OMIM:617925 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Postaxial hand polydactyly, Hydronephrosis, Micropenis |
OMIM:235255 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Short stature, Proportionate short stature, Short metatarsal, Broad palm, Elbow... |
OMIM:608328 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Multicystic kidney dyspla... |
ORPHA:2308 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting |
OMIM:300352 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Single transverse palmar crease, Slender long bone, Camptodactyly, Clinodactyly, L... |
OMIM:613385 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Short stature,... |
ORPHA:97360 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t... |
ORPHA:722 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abdominal pain, Hematuria, M... |
ORPHA:538 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... |
OMIM:227650 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Chromosome 16Q22 Deletion Syndrome |
|
Cryptorchidism, High palate, Hypospadias |
OMIM:614541 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Hypoplastic scapulae, Short stature, Wormian bones, Aplastic... |
OMIM:119600 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Postnatal growth retar... |
ORPHA:487796 |
Orofaciodigital Syndrome Xiv |
|
Hamartoma of tongue, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Cleft palate, Unilate... |
OMIM:615948 |
Charge Syndrome |
|
Anal stenosis, Renal agenesis, Hypogonadotropic hypogonadism, External genital hypoplasia, Crypto... |
OMIM:214800 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, High, narrow palate, Nasogastric tube feeding in infancy, Hypercalciuria, Ren... |
ORPHA:369837 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Dysphagia |
OMIM:613559 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Chromosome 9P Deletion Syndrome |
|
Hypospadias, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow pal... |
OMIM:158170 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Short-segment aganglionic megacolon, Cryptorchidism, Ileus, Long-segment a... |
OMIM:609136 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Camptodactyly, Clinoda... |
OMIM:608156 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Sandal gap, Short stature, 2... |
OMIM:251260 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Aplastic clavic... |
ORPHA:198 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Proportionate shortening of all digits, Tapered finger, Small hand, Hypertrophy of t... |
ORPHA:280633 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, High, narrow palate, Cleft palate, Glossoptosis, Atrial septal defect, Peripheral pu... |
ORPHA:436003 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Hiatus hernia, Rectal prolapse, Cervical insufficiency, Mitral valve prolapse, ... |
ORPHA:287 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1974 |
Seckel Syndrome 5 |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Clitoral hypertrophy |
OMIM:613823 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619312 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hypospadias, Urethrovaginal fistula, Septate vagina, Malabsorption, Cryptorc... |
OMIM:243800 |
Chops Syndrome |
|
Short stature, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vertebral ... |
OMIM:616368 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Periventricular Nodular Heterotopia 9 |
|
Prominent metopic ridge, Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th... |
OMIM:618918 |
Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, Tapered finger, Bif... |
OMIM:200990 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, Vesicoureteral... |
ORPHA:2549 |
X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... |
ORPHA:263665 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Ileus, Feeding difficulties, Constipation, Dysphagia |
OMIM:613327 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Uret... |
ORPHA:79328 |
Cardiofaciocutaneous Syndrome |
|
Short stature, Abnormal morphology of ulna, Cryptorchidism, Genu valgum, Deep palmar crease, Palm... |
ORPHA:1340 |
Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly |
ORPHA:1587 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Hypospadias, Intestinal polyp, Lactose intolerance |
ORPHA:457485 |
Limb Body Wall Complex |
|
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, A... |
ORPHA:2369 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Atrial septal defect, Anal stenosis, Hypospadias, Ventricular septal defect, ... |
OMIM:617063 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Prominent metopic ridge, Overlapping toe, Ulnar deviation of the w... |
OMIM:605039 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim... |
ORPHA:96334 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Reye syndrome-like episodes, Lacticaciduria, Dysphagia, Feeding difficulties, ... |
ORPHA:26791 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Poor suck, Female infertility |
OMIM:619518 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, High palate, Hypospadias |
ORPHA:98791 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Episodic abdo... |
ORPHA:157 |
Joubert Syndrome 14 |
|
Cleft palate, Renal cyst |
OMIM:614424 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Short metatar... |
OMIM:123450 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Exocrine ... |
ORPHA:552 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Clinodactyly, Short distal phalanx of finger |
OMIM:615866 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Single transverse palmar crease, Cryptorchidism, Urachus fist... |
OMIM:612541 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radi... |
OMIM:265000 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Craniosynostosis, Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder... |
ORPHA:1521 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Short Syndrome |
|
Enlarged epiphyses, Clinodactyly, Slender long bone, Radial deviation of finger |
OMIM:269880 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Noonan Syndrome 14 |
|
Scapular winging, Deep palmar crease, Cubitus valgus, Clinodactyly, Limited elbow extension |
OMIM:619745 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Cleft palate, Atrial ... |
ORPHA:254346 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Short stature, Brachydactyly |
ORPHA:168577 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Broad 2nd toe, Palmoplantar hyp... |
OMIM:280000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Umbilical hernia, Hypertrophic cardiomy... |
OMIM:614052 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia |
ORPHA:254930 |
Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Cleft palate, Colon cancer,... |
ORPHA:1052 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Abnormal renal morphology, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly |
OMIM:616430 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Genu recurvatum, Short stature, Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:364028 |
Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Bicuspid aortic valve, Hypospadias |
OMIM:618156 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Rectal prolap... |
ORPHA:508 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Cleft palate, Feeding difficulties, Gastroesophag... |
ORPHA:261197 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:163956 |
Alg12-Cdg |
|
Hypospadias, Intestinal malrotation, Polyhydramnios, Edema, Cryptorchidism, Patent ductus arterio... |
ORPHA:79324 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Aplasia of th... |
OMIM:617088 |
Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Craniosynostosis, Tapered finger, Long fingers, Nec... |
OMIM:611174 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Ventricular septal defect, Polyhydramnios, Large placenta, Galactos... |
OMIM:222470 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Intestinal malrotation, Pancreatic cysts, Stage 5 chronic kid... |
OMIM:208540 |
Mitochondrial Trifunctional Protein Deficiency |
|
Equinus calcaneus |
ORPHA:746 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, Feeding difficulties, High palate, Gast... |
OMIM:616975 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Short stature, Rhizomelic arm shortening, Brachydactyly |
ORPHA:508542 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Cryptorchidism, Atrial septal defect, Hypospadias |
OMIM:618109 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Hypopl... |
ORPHA:233 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Hypospadias, Stroke-like episode |
OMIM:619272 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hydrocele testis, Hypospadias |
OMIM:618972 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Dyspareunia, Renal insufficiency, Nausea and vomiting, Gastrointestinal he... |
ORPHA:36426 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Poly... |
OMIM:109400 |
7Q11.23 Microduplication Syndrome |
|
Short stature, Single transverse palmar crease, Unilateral renal agenesis, Hypospadias, Craniosyn... |
ORPHA:96121 |
Malakoplakia |
|
Proteinuria, Dysuria, Orchitis, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplas... |
ORPHA:556 |
19P13.13 Microdeletion Syndrome |
|
Long fingers, Clinodactyly, Sandal gap |
ORPHA:357001 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Bifid uvula |
OMIM:181270 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Pterygium, Lon... |
OMIM:256520 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, Renal tubular e... |
ORPHA:228308 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Sh... |
ORPHA:404448 |
Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:603116 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fourth finger distal ... |
OMIM:618050 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Cryptorchidism, High palate, Hypospadias, Renal dysplasia |
OMIM:300004 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, High palate, Gastroesophageal reflux, Su... |
ORPHA:65286 |
Chand Syndrome |
|
Hydroureter, Bifid tongue, Imperforate hymen, Cleft palate |
ORPHA:1401 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Cleft soft palate, Precocious puberty, High, narrow palate, Cleft palate, Feeding difficulties, U... |
OMIM:619950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Cryptorchidism, High palate, Gastroesophageal reflux, Dysphagia |
OMIM:300260 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Tapered finger, Narrow palm, Growth delay, Hand clenching, Ureteropelvic junc... |
OMIM:616973 |
Beckwith-Wiedemann Syndrome |
|
Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Nephrolithiasis, Renal cortical... |
OMIM:130650 |
Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... |
OMIM:241080 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Aplasia/Hypoplasia of t... |
ORPHA:564 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot |
OMIM:616038 |
Fraser Syndrome 3 |
|
Short toe, Stillbirth, Cutaneous syndactyly |
OMIM:617667 |
Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Short stature, Hypogonadotropic hypogonadism, Abnormality of the kidney, Small h... |
ORPHA:177907 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Macroorchidism, ... |
OMIM:618874 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Intestinal malrotation, C... |
OMIM:249000 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Meningocele, Anenc... |
ORPHA:1908 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bones, Short pha... |
OMIM:608612 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short stature, Cryptorchidism, Short toe, 2-3 toe syndactyly, ... |
OMIM:139210 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Neoplasm of the colon, Malabsorption, Hepatocellular... |
ORPHA:440437 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Epididymitis, Vaginal hydro... |
ORPHA:2035 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Short stature, Deep palmar crease, Clinodactyly of the 5... |
OMIM:115150 |
Nizon-Isidor Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Hypospadias, Upper eyelid edema |
OMIM:618872 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Joint cont... |
OMIM:602782 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb |
OMIM:619239 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility |
ORPHA:244 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal... |
OMIM:236680 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Arachnodactyly, Single transverse palmar crease, Postnatal growth retardation, C... |
ORPHA:83617 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Severe short stature, Short st... |
ORPHA:3107 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Hypoplastic iliac wing, Prominent fing... |
OMIM:180849 |
White-Sutton Syndrome |
|
Duplicated collecting system, Short stature, Wormian bones, Intrauterine growth retardation, Broa... |
OMIM:616364 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, Syndactyly, Hyp... |
OMIM:268300 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Duodenal atresia |
OMIM:270100 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Long thumb, Clinodactyly |
OMIM:300895 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Cryptorchidism, Patell... |
OMIM:606170 |
Arboleda-Tham Syndrome |
|
Brachydactyly, Recurrent urinary tract infections, Sandal gap, Deviation of the hallux, Short hal... |
OMIM:616268 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Single transverse palmar crease, Craniosynostosis, Clinodactyly of the 5th finger, Cl... |
OMIM:614114 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... |
ORPHA:364577 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Cryptorchidism, Hip dysplasia, Vesicoureteral reflux, ... |
ORPHA:453499 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate |
OMIM:606851 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, ... |
OMIM:618820 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, ... |
OMIM:607932 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Episodic abdominal pain, Primary amenorrhea, Hypoplasia of the uterus |
ORPHA:785 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:1926 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Ovari... |
ORPHA:144 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Feeding difficulties in infancy, Cry... |
ORPHA:1606 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias |
ORPHA:782 |
Toriello-Carey Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Cli... |
ORPHA:3338 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly, Sh... |
ORPHA:2211 |
Kbg Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly |
ORPHA:2332 |
Trisomy 10P |
|
Abnormality of the kidney, Dysphagia, High palate, Gastroesophageal reflux, Multiple renal cysts,... |
ORPHA:171929 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Short toe, Recurrent mandibular subluxations, Limb un... |
OMIM:225410 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Rectal prolapse, Renal hypoplasia, Feeding difficulties, Gast... |
OMIM:617157 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Cutaneous syndactyly, Radial devia... |
OMIM:148050 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,... |
OMIM:616145 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Aganglionic megacolon, Abnormality of the ureter, Nephrolithiasis, Ren... |
ORPHA:798 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitral stenosis, Mitral atresia... |
ORPHA:1596 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
High palate, Hypospadias |
ORPHA:363686 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Recurrent urinary tract ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Recurrent urinary tract ... |
ORPHA:363958 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Tapered finger, Short thumb, Cryptorchidism, Chordee, Clinodactyly of the 5th finger... |
ORPHA:477993 |
Micro Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormal localization of kidney, Delayed pube... |
ORPHA:2510 |
Oculodentodigital Dysplasia |
|
4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx... |
OMIM:164200 |
Okur-Chung Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Broad hallux, Single transverse palmar crease, Brachydactyly |
OMIM:617062 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Short stature, Mi... |
ORPHA:709 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot... |
OMIM:227330 |
Alveolar Echinococcosis |
|
Abdominal pain, Pancreatic cysts, Renal cyst, Vomiting, Decreased liver function, Abnormal bladde... |
ORPHA:284 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Feeding difficulties, Gastroesophageal reflux, High palate, Polycystic... |
OMIM:606232 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cleft palate, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia |
OMIM:616546 |
Tetrasomy 9P |
|
Renal dysplasia, Joint dislocation, Recurrent urinary tract infections, Hypoplastic scapulae, Cry... |
ORPHA:3310 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Renal cortico... |
OMIM:243910 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Clinodactyly, Camptodactyly |
OMIM:617360 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Dermal sinus tract, Hydromyelia,... |
OMIM:600145 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Vomiting, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Bilateral talipes equinovarus, 2-3 toe syndactyly, Equinus calcaneus |
ORPHA:522077 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly |
OMIM:614230 |
Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... |
OMIM:176270 |
Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor... |
OMIM:190685 |
Diamond-Blackfan Anemia 1 |
|
Colon cancer, High palate, Renal hypoplasia, Cleft palate |
OMIM:105650 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly |
ORPHA:306542 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Charge Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Cryptorchidism, Abnor... |
ORPHA:138 |
Cardiospondylocarpofacial Syndrome |
|
Short stature, Tarsal synostosis, Vesicoureteral reflux, Horseshoe kidney, Cone-shaped epiphysis,... |
OMIM:157800 |
Kid Syndrome |
|
Coxa valga, Equinus calcaneus, Postnatal growth retardation, Patellar hypoplasia, Knee flexion co... |
ORPHA:477 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Renal hypoplasia/aplasia, High urinary gonad... |
ORPHA:881 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
Poliomyelitis |
|
Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea |
ORPHA:2912 |
Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Single transverse palmar crease, Dilatation of renal calices, Short palm, Prominent fingertip pad... |
ORPHA:466950 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, S... |
OMIM:151100 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Hypoplasia of the fallopian tube, Abnormal spermat... |
ORPHA:3464 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hypospadias, Abnormality of the k... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hypospadias, Abnormality of the k... |
ORPHA:353277 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cleft palate, Hypopl... |
OMIM:134780 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Cryptorchidism, Patent ductus arteriosus, Male pseudohermaphrodit... |
ORPHA:2282 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostosis, Craniosynostosis, Cryp... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostosis, Craniosynostosis, Cryp... |
ORPHA:352665 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cryptorchidism, Abnormal cardiac septum morphology, Hypospadias |
OMIM:613026 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst, Hiatus hernia |
OMIM:610199 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... |
OMIM:610644 |
Meester-Loeys Syndrome |
|
Joint dislocation, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Brachydactyly |
OMIM:300989 |
Orofaciodigital Syndrome I |
|
Syndactyly, Short stature, Proteinuria, Short 2nd toe, Polydactyly, Radial deviation of finger, P... |
OMIM:311200 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, Colon... |
ORPHA:454840 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst, Feeding difficulties |
OMIM:617260 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Pos... |
ORPHA:93325 |
Li-Fraumeni Syndrome |
|
Renal neoplasm, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the rectum, Colon cancer, Pros... |
ORPHA:524 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardio... |
ORPHA:66634 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Loeys-Dietz Syndrome 2 |
|
Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Syndactyly, Arachnodactyly, Arteri... |
OMIM:610168 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Vaginal atresia |
OMIM:248450 |
Netherton Syndrome |
|
Aminoaciduria, Short stature, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypercalciuria |
ORPHA:2239 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Multiple renal cysts, Enlarged kidney, Pancreatic cysts |
ORPHA:464329 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Pyloric stenosis, Hypoplastic labia majora, Hypoplasia of the uterus, ... |
OMIM:618419 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Cryptorchidism, High, ... |
OMIM:309800 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Umbilical hernia, Micropenis |
OMIM:312830 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Sandal gap, Craniosynostosis, Cryptorchidism, Patellar subluxation,... |
ORPHA:506358 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... |
OMIM:151050 |
Joubert Syndrome 1 |
|
Macroglossia, Nephropathy, Renal cyst, Protruding tongue |
OMIM:213300 |
Caroli Disease |
|
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Abdominal rigidity, Vomiting, Pol... |
ORPHA:53035 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Renal tubular acidosis, Gastroesophageal reflux, Dysphagia, Hypertrophic cardiomyopathy |
OMIM:615471 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metap... |
ORPHA:221016 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Joint dislocation, Crossed fused renal ectopia, Congenital hi... |
OMIM:147920 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Hypospadias, Hypoplastic female external genitalia |
OMIM:177980 |
Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short stature, Hyp... |
ORPHA:955 |
Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Dilated cardiomyopathy, Hypospadias, Cleft palate |
OMIM:603736 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Abnormal preputium morphology, Abnormality of the uret... |
ORPHA:2907 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Fanconi Anemia, Complementation Group P |
|
Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb |
OMIM:613951 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p... |
OMIM:614976 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Broad hallux, Short stature, Hypospadias, Avascular necrosis ... |
ORPHA:353281 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the anus, ... |
ORPHA:1308 |
Wiedemann-Steiner Syndrome |
|
Rhizomelia, Abnormality of the hand, Tapered finger, Abnormality of the elbow, Clinodactyly of th... |
ORPHA:319182 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ... |
OMIM:312870 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Short stature, Hypospadias, Tapered finger, Craniosynostosis, Cryptorchidism, Sm... |
OMIM:309590 |
Noonan Syndrome 1 |
|
Male infertility, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Synov... |
OMIM:163950 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Delayed cranial suture closure, Metatarsus adductus, Flared metaphysis,... |
OMIM:249420 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent duc... |
OMIM:206900 |
Mpdu1-Cdg |
|
Feeding difficulties, Renal cortical cysts, Nasogastric tube feeding |
ORPHA:79323 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed... |
OMIM:117650 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Polyhydramnios, Large placenta, Patent ductus ar... |
ORPHA:1662 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Abdominal pain, Pancreatic cysts, Papillary cystadenoma of ... |
ORPHA:892 |
Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Prominent metopic ridge, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly |
ORPHA:488632 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Glandular hypospadias, Narrow palate, Hypoplastic labia majora, High palate, Shawl s... |
OMIM:604314 |
Ayme-Gripp Syndrome |
|
Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly |
OMIM:601088 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Delayed closure of the anterior fontanelle, Osteopathia striata, Fibular hypoplas... |
OMIM:300373 |
Microsporidiosis |
|
Glossitis, Anorexia, Abdominal pain, Peritonitis, Urethritis, Chronic diarrhea, Abnormal endometr... |
ORPHA:2552 |
Keutel Syndrome |
|
Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, Shortening of all distal pha... |
OMIM:245150 |
8Q24.3 Microdeletion Syndrome |
|
Long toe, Microretrognathia, Pes planus, Congenital hip dislocation, Short femur, Single transver... |
ORPHA:508488 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Feeding difficulties in infancy, Neoplasm of t... |
ORPHA:1454 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Recurrent urinary tract infections, Renal insuff... |
ORPHA:731 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Hypospadias, Narrow palate, Hypoplastic labia majora, Anteriorly placed anus, High... |
OMIM:123790 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Bilateral camptodactyly, Elbow flexion contracture, Small hand, ... |
OMIM:619777 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Clinodactyly of the 5th finger, Intrauterine growth retardation, Bra... |
OMIM:147791 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypospadias, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Hypertrophic... |
ORPHA:17 |
Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly |
ORPHA:1519 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Fused cervical vertebrae, Clinodactyly, Limited pronati... |
ORPHA:1724 |
Timothy Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Cutaneous syndactyly |
OMIM:601005 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Micropenis, Hypospadias, Hydrops fetalis |
OMIM:613673 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Patellar hypopla... |
ORPHA:221008 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Single transverse palmar crease, Pelvic kidney, Short palm, Dilatation of renal calices, Brachyda... |
ORPHA:466943 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Renal agenesis, Hypospadias, Nonimmune hydrops fetalis, Ventricular septal... |
ORPHA:124 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Renal dysplasia, Congenital hip dislocation, Overlapping toe, Short stature, Posta... |
ORPHA:480880 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb |
OMIM:617244 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Feeding difficulties |
OMIM:609180 |
White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Hip dysplasia, Metopic synostosis, Hydronephrosis |
OMIM:619426 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Noonan Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Radioulnar synostosis, Clinodactyly... |
ORPHA:648 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatoblastoma, Feeding difficulties in infancy, Cryptorchidism, Nephrolith... |
ORPHA:116 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Unilateral renal agen... |
ORPHA:268261 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Abnormal preputium morphology, Glandular hypospadias, Cleft soft palate, Oligohydramnios |
ORPHA:293725 |
Fanconi Anemia, Complementation Group Q |
|
Absent thumb |
OMIM:615272 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Growth delay, Hydronephrosis |
ORPHA:488613 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Megacystis, Abnormal cardiac septum... |
ORPHA:209905 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Hydronephrosis, Cryptorchidism |
OMIM:620327 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the phalanges of the 2nd... |
ORPHA:79500 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Short stature, Craniosynostosis, Postaxial hand poly... |
OMIM:613610 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Postnatal growth retardation, Intrauterine growth retardation, Duplicated collecting system, Hydr... |
OMIM:617093 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Submucous cleft hard palate, Aortic root aneurysm, Chordee, Atrial septal defect |
OMIM:618891 |
Mgat2-Cdg |
|
Brachydactyly |
ORPHA:79329 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Narrow palm, Slender... |
ORPHA:193 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Anal atresia, Hypospadias, High palate, Ambiguous genitalia, Abnormal renal physio... |
ORPHA:96176 |
Congenital Fibrosis Of Extraocular Muscles |
|
Hand oligodactyly |
ORPHA:45358 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Prominent metopic ridge, Rhizomelia, Craniosynostosis, Phalangeal cone-shaped epiphyses, Postaxia... |
OMIM:266920 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Arachnodactyly, Cryptorchidism, Nephrotic syndrome, Talipes equinovarus, Hydro... |
OMIM:601776 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Gastro... |
ORPHA:436252 |
Cystinosis, Nephropathic |
|
Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal ... |
OMIM:219800 |
Atelis Syndrome 2 |
|
Clinodactyly, Single transverse palmar crease |
OMIM:620185 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Clinodactyly |
OMIM:618164 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Vesicoureteral reflux, Large hands, Clinodactyly of the 5th finger, Recurrent py... |
ORPHA:48652 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Caroli Syndrome |
|
Cholangiocarcinoma, Abnormality of the kidney, Abdominal pain, Hematemesis, Esophageal varix, Abd... |
ORPHA:480520 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:534 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Hydronephrosis |
OMIM:619179 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Wrist swelling, P... |
OMIM:309000 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, V... |
ORPHA:2152 |
3M Syndrome |
|
Hypospadias, Abnormal cerebral vascular morphology |
ORPHA:2616 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Short stature, Brachydactyly |
ORPHA:443811 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Progeroid Short Stature With Pigmented Nevi |
|
Bicuspid aortic valve, Hypospadias, Chordee, Aortic valve stenosis, Esophageal ulceration |
OMIM:176690 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Gastroesophageal reflux, Mi... |
OMIM:613803 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic labia minora, High, nar... |
ORPHA:2554 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Wiedemann-Rautenstrauch Syndrome |
|
Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Long toe, Short stature, Hypogona... |
ORPHA:3455 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly |
OMIM:209885 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... |
OMIM:614188 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Congenital posterior urethral valve, High palate, ... |
OMIM:620083 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Camptodactyly |
OMIM:619343 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneou... |
OMIM:620029 |
Coffin-Siris Syndrome |
|
Hypospadias, Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:1465 |
Marfan Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Genu recurvatum, Equinus calcaneus, Metatarsus adductus, Pre... |
OMIM:154700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Short stature, Hypospadias, Small hand, Fibular hypoplasia, Horseshoe kidney, Hypo... |
ORPHA:444077 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Immunodeficiency 40 |
|
Focal active colitis, Rectal fistula |
OMIM:616433 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Tapered finger, Small hand, Short foot, Hip dysplasia, Camptoda... |
OMIM:301044 |
Pearson Syndrome |
|
Renal insufficiency, Median cleft lip and palate, Proteinuria, Chronic diarrhea, Lacticaciduria, ... |
ORPHA:699 |
Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly |
OMIM:210900 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst, Dysphagia |
OMIM:615636 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve prolapse, Umbilical he... |
OMIM:611962 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Feeding difficulties, Glossoptosis, Short hard palate |
ORPHA:1393 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Uri... |
OMIM:300661 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... |
ORPHA:261537 |
Branchioskeletogenital Syndrome |
|
Ureteral stenosis, Unilateral cleft palate, Absent external genitalia, Submucous cleft hard palat... |
ORPHA:1299 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Poor appet... |
ORPHA:125 |
Neurooculorenal Syndrome |
|
Short 1st metacarpal, Talipes equinovarus, Short hallux, Micrognathia |
OMIM:620305 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Dilatation of the ventric... |
ORPHA:459070 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias |
OMIM:619718 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Short stature, Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Ge... |
ORPHA:363700 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Cryptorchidism, Patent duct... |
OMIM:300166 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Short stature, Postnatal growth retardation, Long fingers, Talipes equinovarus, Slender... |
OMIM:613355 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Male urethral meatus stenosis, Microphallus, Short palm, Clinodactyl... |
OMIM:613406 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Left atrial enlargement, Vent... |
OMIM:619991 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Polyhydramnios, Patent ductus arteriosus, Submucous cleft hard... |
OMIM:275210 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, Finger syndactyly, Talipes equinovarus, 2-3 toe syndactyly |
OMIM:620025 |
Cowden Syndrome |
|
Abnormal penis morphology, Short stature, Abnormality of the kidney, Renal cell carcinoma, Palmop... |
ORPHA:201 |
Hatipoglu Immunodeficiency Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:620331 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Palmoplantar hyperkeratosis, Bilateral single tr... |
ORPHA:3253 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Congenital Disorder Of Glycosylation, Type It |
|
Growth delay, Short stature, Hydronephrosis, Delayed puberty |
OMIM:614921 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Pulmonary artery sling, Abnormality of the kidney, Ventricular septal... |
OMIM:235730 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig... |
ORPHA:3063 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hydronephrosis |
ORPHA:1780 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... |
OMIM:612474 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal metacarpal morphology, Absent ... |
ORPHA:284160 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation ... |
OMIM:220111 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Broad thumb |
ORPHA:87 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micr... |
ORPHA:261552 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Abnormal renal collecting s... |
ORPHA:468631 |
Sotos Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney, Cryptorchidi... |
ORPHA:821 |
3Mc Syndrome 2 |
|
Hypospadias, Cryptorchidism, Cleft palate, Horseshoe kidney, High palate |
OMIM:265050 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Gastrointestinal infarctions, Uterine rupture, Peripheral arteriovenous fist... |
ORPHA:286 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Macroglossia, Nephroblastoma, Bifid ureter, Enla... |
ORPHA:500095 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... |
OMIM:211380 |
Holoprosencephaly |
|
Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of the urinary system, Hand polydac... |
ORPHA:2162 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Hypoplastic labia major... |
OMIM:603457 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Anal atresia, Ectopic anus, Hypospadias, Cleft palate |
ORPHA:85199 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hydronephrosis |
OMIM:620330 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria, Concentric hypertrophic cardiomyopat... |
OMIM:252010 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Polyhydramnios, Cry... |
OMIM:619841 |
Alzahrani-Kuwahara Syndrome |
|
Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Persi... |
OMIM:619268 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly |
OMIM:619869 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Syndactyly, Renal insufficiency, Short stature, Postaxial polydactyly, Broad first me... |
OMIM:619534 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Cleft palate, Cardiomyopathy, High palate, ... |
OMIM:242840 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Clinodactyly, Prominent metopic ridge |
ORPHA:75857 |
Waardenburg Syndrome, Type 1 |
|
Aplasia of the vagina |
OMIM:193500 |
Turnpenny-Fry Syndrome |
|
Overlapping toe, Tapered finger, Long fingers, Small hand, Prominent interphalangeal joints, Shor... |
OMIM:618371 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficulties, Hydroce... |
OMIM:300855 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Renal cyst, ... |
OMIM:113620 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Mult... |
ORPHA:90349 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bilateral cryptorchidism, Hydrometrocolpos, Vomiting, Gastroesophageal reflux,... |
OMIM:150230 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Abnormal external genitalia, Hypospadias, Bicuspid aortic valve, Ec... |
OMIM:607872 |
Fanconi Anemia, Complementation Group E |
|
Absent radius, Short thumb, Complete duplication of thumb phalanx, Absent thumb |
OMIM:600901 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Malabsorption, Anorectal anomaly, Urethral stenosis, Tracheoesophageal fistu... |
ORPHA:1775 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Palpebral edema, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hi... |
OMIM:619475 |
Dubowitz Syndrome |
|
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, High pala... |
OMIM:223370 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,... |
OMIM:305000 |
Proteus Syndrome |
|
Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Ovarian neoplasm, Macro... |
ORPHA:744 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Feeding difficulties in infancy, Renal cortical cysts |
OMIM:618548 |
Hypermobile Ehlers-Danlos Syndrome |
|
Nausea and vomiting, Abnormality of the menstrual cycle, Malabsorption, Gastrointestinal dysmotil... |
ORPHA:285 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Hepato... |
ORPHA:1359 |
Pallister-Killian Syndrome |
|
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, Fe... |
OMIM:601803 |
Coffin-Lowry Syndrome |
|
Uterine prolapse, Rectal prolapse, High palate, Narrow palate |
OMIM:303600 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Um... |
ORPHA:2990 |
Esophageal Atresia |
|
Clinodactyly |
ORPHA:1199 |
Monosomy 9P |
|
Hypospadias, Cryptorchidism, Cleft palate, High palate, Ambiguous genitalia, Ureteropelvic juncti... |
ORPHA:261112 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Rectal abscess |
OMIM:608203 |
Dpagt1-Cdg |
|
Clinodactyly, Arachnodactyly, Camptodactyly |
ORPHA:86309 |
Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Single transverse palmar crease |
ORPHA:96123 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Cryptorchidism, Nephrolithiasis, Hip dysplasia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:438213 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Enuresis, Short stature, Delayed puberty, Brachydactyly |
ORPHA:293987 |
Coffin-Siris Syndrome 12 |
|
Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p... |
OMIM:619325 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Precocious puberty, Hypospadias |
OMIM:615877 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Meconium ileus, Feeding difficulties |
OMIM:617239 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Hypoplastic ili... |
OMIM:264090 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
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High palate, Bladder exstrophy, Hypospadias |
OMIM:210730 |
Hardikar Syndrome |
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Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Short stature... |
OMIM:301068 |
Viss Syndrome |
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Long toe, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Short stature, Hip dis... |
OMIM:619472 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele |
OMIM:616734 |
Osteopetrosis With Renal Tubular Acidosis |
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Short stature, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Distal r... |
ORPHA:2785 |
Ring Chromosome 7 Syndrome |
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Hypospadias, Situs inversus totalis, Cleft palate, Hydrocele testis, Hypogonadism, Median cleft p... |
ORPHA:1449 |
Cystic Fibrosis, Modifier Of, 1 |
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Meconium ileus |
OMIM:603855 |
Visceral Myopathy 1 |
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Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Clinodactyly, Broad hallux, Single transverse palmar crease |
OMIM:620186 |
Orofaciodigital Syndrome Type 14 |
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Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Patent duct... |
ORPHA:434179 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Micrognathia |
ORPHA:1071 |
Granulomatous Disease, Chronic, X-Linked |
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Pleural effusion, Ascites, Rectal abscess |
OMIM:306400 |
Congenital Alveolar Capillary Dysplasia |
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Hydronephrosis |
ORPHA:210122 |
Fontaine Progeroid Syndrome |
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Syndactyly, Craniosynostosis, Deep palmar crease, Absent distal phalanges, Neonatal death, Corona... |
OMIM:612289 |
Axenfeld-Rieger Syndrome, Type 1 |
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Anal stenosis, Hypospadias, Anal atresia |
OMIM:180500 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Hyperphosphaturia, Stippled calcification of the shoulder, Abnormal calc... |
ORPHA:51608 |
Loeys-Dietz Syndrome |
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High palate, Bifid uvula, Uterine rupture |
ORPHA:60030 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Hyperkeratosis, Palmoplantar keratoderma, Short 4th m... |
ORPHA:2908 |
Digeorge Syndrome |
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Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, Hydrocele testis,... |
OMIM:188400 |
Holoprosencephaly 3 |
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Hydronephrosis |
OMIM:142945 |
Knobloch Syndrome 1 |
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Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Pmm2-Cdg |
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Proteinuria, Hypogonadotropic hypogonadism, Feeding difficulties, Nephrotic syndrome, Hyperplasti... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency, Type I |
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Rectal abscess |
OMIM:116920 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess |
OMIM:601495 |
Ileal Neuroendocrine Tumor |
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Hydronephrosis |
ORPHA:100078 |
Hennekam Syndrome |
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Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology |
ORPHA:2136 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Rectal abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Rectal abscess |
OMIM:233690 |
Norrie Disease |
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Cryptorchidism, Erectile dysfunction, Uterine rupture |
ORPHA:649 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft palate, Vesicoureteral reflux... |
OMIM:164210 |