Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
Triphalangeal Thumb, Nonopposable |
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Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Craniosynostosis 5, Susceptibility To |
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Craniosynostosis |
OMIM:615529 |
Digital Clubbing, Isolated Congenital |
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Clubbing |
OMIM:119900 |
Craniosynostosis, Philadelphia Type |
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Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Chromosome 2Q35 Duplication Syndrome |
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Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Craniosynostosis, Adelaide Type |
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Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Summitt Syndrome |
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Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
Aurocephalosyndactyly |
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4-5 toe syndactyly, Craniosynostosis |
OMIM:109050 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
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Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Oliver Syndrome |
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Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
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Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
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Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
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Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
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Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly, Type Iv |
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1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Symphalangism, Distal |
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Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... |
OMIM:185700 |
Orofacial Cleft 11 |
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Cleft lip, Cleft palate |
OMIM:600625 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
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Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly |
OMIM:614416 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Pierre Robin Syndrome And Oligodactyly |
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Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Craniosynostosis With Fibular Aplasia |
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Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Jackson-Weiss Syndrome |
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Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Non-Syndromic Sagittal Craniosynostosis |
|
Prominent occiput, Frontal bossing, Dolichocephaly |
ORPHA:35093 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
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Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga |
OMIM:601370 |
Acropectoral Syndrome |
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Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Greig Cephalopolysyndactyly Syndrome |
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Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax... |
ORPHA:380 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
Syndactyly-Polydactyly-Earlobe Syndrome |
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Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth |
OMIM:218650 |
Santos Syndrome |
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Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Scalp Defects And Postaxial Polydactyly |
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Postaxial polydactyly type A |
OMIM:181250 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Multiple Synostoses Syndrome 3 |
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Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Broad hallux phalanx, Broad hallux, Trigonocephaly, Craniosynostosis, 1-3 toe sy... |
OMIM:175700 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Potocki-Shaffer syndrome |
|
Parietal foramina, Delayed cranial suture closure |
DECIPHER:34 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal ... |
ORPHA:294975 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Orbital craniosynostosis, Dolichocephaly |
ORPHA:1538 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha... |
OMIM:604757 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Sprengel Deformity |
|
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... |
ORPHA:3181 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow... |
ORPHA:1423 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly, Dolichocephaly |
ORPHA:261243 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Radial head subluxation, Short toe, G... |
OMIM:614078 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Cli... |
OMIM:314320 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Hypophosphatasia, Childhood |
|
Frontal bossing, Bowing of the legs, Craniosynostosis, Dolichocephaly |
OMIM:241510 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p... |
OMIM:602849 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
Lowry-Maclean Syndrome |
|
Craniosynostosis |
OMIM:600252 |
Cranioectodermal Dysplasia |
|
Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Pr... |
ORPHA:1515 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Brachydactyly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal... |
ORPHA:2787 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly |
ORPHA:1277 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, White... |
ORPHA:2779 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premature posterio... |
ORPHA:3369 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib... |
ORPHA:1803 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... |
OMIM:180750 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ... |
ORPHA:2635 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... |
OMIM:616602 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation, Clubbing, Joint contracture of the... |
OMIM:618523 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ... |
ORPHA:166002 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ... |
ORPHA:1553 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p... |
OMIM:250460 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia |
ORPHA:156728 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Autosomal Recessive Omodysplasia |
|
Frontal bossing, Abnormal morphology of the radius, Rhizomelia, Craniosynostosis, Micromelia, Elb... |
ORPHA:93329 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,... |
ORPHA:63446 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr... |
ORPHA:1520 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility |
OMIM:618906 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:201550 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvarial ossification, Trigonoceph... |
OMIM:618265 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Flat distal femoral epiphysis, Epiphyseal dysplasia, Abnormalit... |
OMIM:609324 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility |
OMIM:616721 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long... |
OMIM:151210 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Brachyd... |
ORPHA:2145 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Narrow chest, Short ri... |
OMIM:618961 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Hip dislocation, Deep palmar crease, C... |
OMIM:619451 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... |
OMIM:600775 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... |
OMIM:607778 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis |
ORPHA:1528 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Narrow chest, Ab... |
ORPHA:1354 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ... |
OMIM:271650 |
Muenke Syndrome |
|
Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C... |
ORPHA:53271 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... |
OMIM:618736 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Clinodactyly of the 5th finger, Frontal bossing, Craniosynostosis, Dolichocephaly |
ORPHA:1516 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis |
OMIM:218670 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Odontochondrodysplasia 1 |
|
Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis... |
OMIM:184260 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... |
ORPHA:376 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis |
ORPHA:2117 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Large fontanelles, Abnormal meta... |
ORPHA:436 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Clinodactyly,... |
OMIM:618577 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe... |
OMIM:616809 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Camptodac... |
ORPHA:628 |
Trigonocephaly 1 |
|
Metopic synostosis, Trigonocephaly, Craniosynostosis |
OMIM:190440 |
Enlarged Parietal Foramina |
|
Parietal foramina, Broad thumb, Short clavicles, Craniosynostosis |
ORPHA:60015 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Absent or minimally ossified vertebral bo... |
OMIM:600972 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abnormal rib morpholog... |
ORPHA:2097 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Small hand, Cleft palate |
OMIM:300261 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Hypoplastic pubic bone, Decreased calvarial ossification, Short clavicles, Corona... |
OMIM:614592 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis |
OMIM:614732 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... |
ORPHA:1802 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Trismus, Aplasia/Hypoplasia of the radius, ... |
ORPHA:916 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Clinodactyly of the 5t... |
ORPHA:2163 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Calvarial skull defect, Postaxial polydactyly type A |
ORPHA:1003 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal... |
ORPHA:40 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... |
OMIM:259440 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening of all middle phalanges... |
OMIM:101600 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Grant Syndrome |
|
Wormian bones, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E... |
ORPHA:2249 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Large fontanelles, Brac... |
ORPHA:171839 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiff... |
ORPHA:83 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... |
ORPHA:2370 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:2872 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost... |
OMIM:177170 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... |
OMIM:112240 |
Achondrogenesis Type 1B |
|
Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormal rib morphology... |
ORPHA:93298 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands |
OMIM:300263 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona... |
OMIM:619751 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Flexio... |
OMIM:207410 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... |
OMIM:602557 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... |
OMIM:616229 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Macrocephaly-Developmental Delay Syndrome |
|
Clinodactyly of the 5th finger, Frontal bossing, Scaphocephaly, Craniosynostosis |
ORPHA:397612 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Thoracic hypoplasia, Brachydactyly |
ORPHA:221054 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Microg... |
ORPHA:93299 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... |
OMIM:616294 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo... |
ORPHA:503 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... |
OMIM:201000 |
Odontochondrodysplasia |
|
Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ... |
ORPHA:166272 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li... |
ORPHA:177 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Joint hypermobility |
OMIM:147060 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short middle phalanx of the 2nd finger, Partial duplication of thumb pha... |
OMIM:617926 |
Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ... |
OMIM:603116 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met... |
ORPHA:56304 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosy... |
OMIM:616723 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Osteoglosphonic Dysplasia |
|
Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal bone ossification |
ORPHA:2645 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Short palm, Clin... |
ORPHA:457395 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop... |
OMIM:617866 |
Joubert Syndrome 20 |
|
Inability to walk, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibi... |
OMIM:608940 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... |
OMIM:617102 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the odontoid proce... |
OMIM:184250 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Limitation ... |
ORPHA:1486 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... |
OMIM:250420 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis |
ORPHA:1496 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Sagittal craniosynostosis, Hip dysplasia, Cutaneous finger syndactyly, Broad pha... |
OMIM:614378 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Prenatal death, Camptodactyly, Neonatal death... |
OMIM:618393 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... |
OMIM:620099 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Coxa valga |
OMIM:616943 |
X-Linked Intellectual Disability, Cilliers Type |
|
Clinodactyly of the 5th finger, Coronal craniosynostosis, Small hand |
ORPHA:163971 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Achondroplasia |
|
Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal... |
ORPHA:15 |
Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Tapered finger, Coxa valga, Genu valgum, Ulnar deviation of finge... |
ORPHA:949 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Metopic depression, Decreased calvarial ossif... |
ORPHA:313855 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Diaphanospondylodysostosis |
|
Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ossified ver... |
ORPHA:66637 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Brachydactyly |
OMIM:613819 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... |
ORPHA:1842 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... |
OMIM:101200 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia... |
OMIM:108720 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Craniosynostosis |
ORPHA:531151 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Finger clinodactyly, Bilateral talipes equinovarus, Supernumerary ribs |
ORPHA:2958 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip... |
OMIM:613320 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Abnormal hip joint morphology, Broad hallux, Ovoid vertebral bodies, Abno... |
ORPHA:1856 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus... |
OMIM:223800 |
X-Linked Intellectual Disability, Van Esch Type |
|
Clinodactyly of the 5th finger, Coronal craniosynostosis |
ORPHA:163976 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Short thorax, Hip ... |
ORPHA:2484 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:600081 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared metaphysis, Elbow... |
OMIM:184252 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri... |
ORPHA:3035 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Achondrogenesis |
|
Micromelia, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormality of bone min... |
ORPHA:932 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly, Delayed closure of the anterio... |
ORPHA:231140 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... |
OMIM:601853 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Frontal bossing, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Ta... |
OMIM:619721 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Bi... |
ORPHA:284417 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydactyly, 2-3 finger syndac... |
OMIM:601707 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Joubert Syndrome 17 |
|
Ataxia, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polyd... |
OMIM:614099 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic s... |
OMIM:613848 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow gr... |
OMIM:602271 |
Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis,... |
OMIM:259700 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... |
OMIM:609945 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyse... |
ORPHA:93352 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Elbow contracture, Multiple pterygia, Craniosynostosis, Tarsal... |
OMIM:178110 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis |
OMIM:241310 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... |
OMIM:610967 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Craniosynostosis |
OMIM:619076 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Aganglionic megacolon, Foot polydactyly |
ORPHA:2155 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... |
OMIM:173800 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br... |
OMIM:113300 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Laurence-Moon Syndrome |
|
Ataxia, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Long fingers, B... |
OMIM:613174 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... |
OMIM:224400 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short f... |
OMIM:612813 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus... |
ORPHA:64755 |
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 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal thorax morphology, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated ... |
OMIM:605274 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Joubert Syndrome 27 |
|
Polydactyly, Ataxia, Gait ataxia |
OMIM:617120 |
Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly |
OMIM:300804 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... |
ORPHA:1837 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Increased susceptibility to fractures, Decrease... |
OMIM:241500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion |
ORPHA:207 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be... |
OMIM:616897 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... |
ORPHA:2496 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Craniosynostosis |
OMIM:619873 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Limitation of joint mob... |
ORPHA:178303 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
Frontoocular Syndrome |
|
Trigonocephaly, Coronal craniosynostosis |
OMIM:605321 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Fl... |
ORPHA:1865 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, ... |
OMIM:608154 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu valgum, Pectus ... |
OMIM:607131 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,... |
OMIM:244460 |
Mohr Syndrome |
|
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... |
OMIM:252100 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... |
ORPHA:1318 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism... |
ORPHA:710 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalange... |
ORPHA:73230 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa ... |
ORPHA:1988 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger |
OMIM:181180 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ... |
ORPHA:1512 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm under... |
OMIM:251230 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... |
OMIM:614815 |
Microphthalmia, Syndromic 8 |
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Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split foot |
OMIM:601349 |
Osteogenesis Imperfecta, Type Xxi |
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Barrel-shaped chest, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus excavatum, Osteo... |
OMIM:619131 |
Split-Hand/Foot Malformation 3 |
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Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Bifid uvula, Cleft palate |
OMIM:258320 |
Atelosteogenesis Type I |
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Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Distal Deletion 17Q |
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Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,... |
ORPHA:1597 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Abnormality of the vertebral column, Palmoplantar keratoderma, Obesity, Abnormal pelvis bone morp... |
ORPHA:2206 |
Crouzon Syndrome |
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Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
Sheldon-Hall Syndrome |
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Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Adducted thumb, Ulnar ... |
ORPHA:1147 |
Osteoglophonic Dysplasia |
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Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
Acromesomelic Dysplasia 1 |
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Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Cardioacrofacial Dysplasia 1 |
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Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... |
OMIM:144750 |
Marshall-Smith Syndrome |
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Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
1P31P32 Microdeletion Syndrome |
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Frontal bossing, Craniosynostosis |
ORPHA:401986 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Osteopenia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder dislocation, Di... |
OMIM:245600 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
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Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Craniosynostosis, Large fontanelles, Biparietal narrowing, Camptodact... |
ORPHA:251038 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Micrognathia,... |
ORPHA:3082 |
Bardet-Biedl Syndrome 9 |
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Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Cleidocranial Dysplasia |
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Mandibular prognathia, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5t... |
ORPHA:1452 |
Tibial Hemimelia |
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Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
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Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology |
ORPHA:166100 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Cardioacrofacial Dysplasia 2 |
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Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Slc35A2-Cdg |
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Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormality of the... |
ORPHA:356961 |
Ivic Syndrome |
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Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... |
OMIM:600920 |
Chromosome 10Q26 Deletion Syndrome |
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Frontal bossing, Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transverse ... |
OMIM:609625 |
Cooper-Jabs Syndrome |
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Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
Otospondylomegaepiphyseal Dysplasia |
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Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Abnormality of the philtrum, Cleft upper lip, Palmoplantar hyperkeratosis, Cleft palate, Cutaneou... |
OMIM:225060 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Flexion contract... |
OMIM:130070 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossific... |
OMIM:618395 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Pycnodysostosis |
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Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral densit... |
ORPHA:763 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
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Sagittal craniosynostosis, Scaphocephaly, Small hand, Brachycephaly, Camptodactyly, Trigonocephal... |
ORPHA:459061 |
Pallister-Hall-Like Syndrome |
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Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:241800 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Knee flexion contrac... |
ORPHA:3103 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
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Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Enlargement of the ... |
OMIM:241530 |
3M Syndrome |
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Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Multiple Synostoses Syndrome 1 |
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Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Dyggve-Melchior-Clausen Disease |
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Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... |
ORPHA:3121 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi... |
OMIM:244600 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Brachycephaly, Deep palmar cre... |
ORPHA:254346 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Congenital Pseudoarthrosis Of The Clavicle |
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Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Seckel Syndrome |
|
Sandal gap, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflexibility, Hip dysplasia, Clino... |
ORPHA:808 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
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Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
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Craniosynostosis, Joint hypermobility |
OMIM:619056 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial hand polydactyly... |
OMIM:301056 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Broad hallux... |
OMIM:614188 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Abruzzo-Erickson Syndrome |
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Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Ollier Disease |
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Abnormal metaphysis morphology, Osteolysis, Micromelia, Joint stiffness |
ORPHA:296 |
Blomstrand Lethal Chondrodysplasia |
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Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:1064 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Craniosynostosis, Metaph... |
OMIM:250410 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contractu... |
OMIM:300232 |
Distal Deletion 10Q |
|
Frontal bossing, Prominent metopic ridge, Scapular winging, Sandal gap, Single transverse palmar ... |
ORPHA:96148 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Single transverse palmar crease, Camptodactyly of finger, Joint hyperm... |
OMIM:619951 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal metacarpal morphology, Coronal craniosynostosis, Brachycephaly, Short distal phalanx of ... |
ORPHA:2095 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat... |
OMIM:208500 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis |
OMIM:616901 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ... |
ORPHA:93346 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Calvarial skull defect, Frontal bossing, Coronal craniosynostosis, Brachycephaly |
ORPHA:228390 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... |
OMIM:615761 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Frontal bossing, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia,... |
ORPHA:166035 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... |
OMIM:614175 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo... |
OMIM:611174 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Abnormal rib morphology, Narrow chest, Bilateral single tr... |
ORPHA:1703 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula |
OMIM:604841 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P... |
OMIM:211750 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal hair morphology, Preaxial polydactyly, Scoliosis, Spi... |
ORPHA:64754 |
Coffin-Siris Syndrome 7 |
|
Trigonocephaly, Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly |
OMIM:618027 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion |
ORPHA:35099 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Sagittal craniosynostosis, Small hand, Broad palm, Coronal craniosynostosis |
OMIM:145420 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Hypoplasia of the radius, Brachydactyly |
ORPHA:96097 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wre... |
OMIM:615777 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Arachnodactyly, Craniosynostosis, Dol... |
OMIM:182212 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,... |
OMIM:269300 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Talipes equinovarus, Craniosynostosis |
OMIM:601374 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Aplastic clavicle, Parietal foram... |
ORPHA:85199 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short thorax, Joint hyperflexi... |
ORPHA:2655 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... |
OMIM:610682 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint... |
OMIM:212112 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu... |
OMIM:255800 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Cleft palate, High palate, Evert... |
OMIM:619736 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Short neck, Micrognathia, Split hand, Abnormal pelvic girdle bone morp... |
OMIM:157900 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Devia... |
OMIM:616362 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Pectus excavatum, 2-3 toe syndactyly... |
OMIM:618162 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Craniosynostosis, Osteoporosis, Small anterior fonta... |
ORPHA:2409 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip |
OMIM:613885 |
Aredyld Syndrome |
|
Mandibular prognathia, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormal pelvic ... |
ORPHA:1133 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Narrow chest |
ORPHA:1861 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... |
ORPHA:93932 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Short metacarpal, Cloverleaf skull, Limited elbow movement, Craniosynostosis, Pr... |
ORPHA:508533 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... |
OMIM:616300 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
20P13 Microdeletion Syndrome |
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Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
Hypertrichosis Cubiti |
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Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia |
ORPHA:2220 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Arachn... |
ORPHA:536467 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Flexion contracture, Brachycephaly, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Sh... |
ORPHA:95699 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Joint laxity, Microretrognathia, Scapular winging, Single transverse palmar crease, Micromelia, M... |
OMIM:618870 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
3P25.3 Microdeletion Syndrome |
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Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Cleft Soft Palate |
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Cleft soft palate |
OMIM:119570 |
Ivic Syndrome |
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Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eye... |
ORPHA:3253 |
Mucopolysaccharidosis Type 4 |
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Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Genu valgum, Pectus ... |
ORPHA:582 |
Beta-Mercaptolactate Cysteine Disulfiduria |
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Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce... |
ORPHA:2911 |
Pseudoaminopterin Syndrome |
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Frontal bossing, Brachydactyly, Overlapping toe, Single transverse palmar crease, Sagittal cranio... |
ORPHA:221120 |
Ellis-Van Creveld Syndrome |
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Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Cousin Syndrome |
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Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Atelosteogenesis, Type Iii |
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Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi... |
OMIM:108721 |
Acrofacial Dysostosis, Catania Type |
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Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormal hair pattern, Cari... |
ORPHA:1786 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
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Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... |
ORPHA:1120 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Plagiocephaly, Craniosynostosis, Brachydactyly |
ORPHA:457193 |
Joubert Syndrome 23 |
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Polydactyly |
OMIM:616490 |
Proximal 16P11.2 Microdeletion Syndrome |
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Platybasia, Hand polydactyly, Midface retrusion, Craniosynostosis |
ORPHA:261197 |
Acrodysostosis |
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Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Braddock-Carey Syndrome 2 |
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Wide mouth, Clinodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:619981 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... |
ORPHA:1307 |
Suleiman-El-Hattab Syndrome |
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Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ... |
OMIM:618950 |
Codas Syndrome |
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Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental enamel m... |
ORPHA:1458 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Micrognathia, Pectus excavatum, Abnormal rib morphology, Fused cerv... |
ORPHA:2522 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
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Cleft lip, Cleft palate |
OMIM:612370 |
Orofaciodigital Syndrome Type 2 |
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Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
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Broad hallux, Shortening of all distal phalanges of the fingers, Plagiocephaly, Left unicoronal s... |
OMIM:614749 |
Phaver Syndrome |
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Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Pelvis-Shoulder Dysplasia |
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Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Bilateral talipes eq... |
OMIM:618142 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
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Natal tooth, Cleft palate |
OMIM:217150 |
Hypomelia With Mullerian Duct Anomalies |
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Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Hypomandibular Faciocranial Dysostosis |
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Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion |
ORPHA:1790 |
Bardet-Biedl Syndrome 19 |
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Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Osteopenia, Hypoplasia of the ulna, Osteoporosis, Brachycephaly, Ankle clonus, Metopic synostosis... |
OMIM:615398 |
Craniofrontonasal Syndrome |
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Joint laxity, Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Brachycephal... |
OMIM:304110 |
Xylt1-Cdg |
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Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles... |
ORPHA:370930 |
Meier-Gorlin Syndrome 7 |
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Joint laxity, 2-4 finger syndactyly, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypopla... |
OMIM:617063 |
Arthrogryposis Multiplex Congenita 6 |
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Death in infancy, Death in childhood, Neonatal death, Arthrogryposis multiplex congenita, Adducte... |
OMIM:619334 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
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Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Tibial bowing, Congenital b... |
ORPHA:453510 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Joint laxity, Syndactyly, Polydactyly |
OMIM:602501 |
Bardet-Biedl Syndrome 17 |
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Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
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Mandibular prognathia, Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morph... |
OMIM:123000 |
Isolated Hemihyperplasia |
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Myelomeningocele |
ORPHA:2128 |
Baller-Gerold Syndrome |
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Limited elbow movement, Brachycephaly, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviat... |
OMIM:218600 |
15Q Overgrowth Syndrome |
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Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly... |
ORPHA:314585 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,... |
OMIM:616738 |
Cartilage-Hair Hypoplasia |
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Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa... |
ORPHA:175 |
Bardet-Biedl Syndrome 3 |
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Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Lethal Kniest-Like Dysplasia |
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Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, Preaxial poly... |
OMIM:617925 |
Acrocephalopolydactylous Dysplasia |
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Postaxial hand polydactyly, Oxycephaly, Craniosynostosis, Micromelia |
OMIM:200995 |
Hypoglossia-Hypodactyly Syndrome |
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Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
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Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Low posterior hairline, ... |
ORPHA:1323 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Clinoda... |
ORPHA:2759 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Turricephaly, Cloverleaf skull, Craniosynostosis, Palmoplantar cutis gyrata, Palmoplantar keratod... |
ORPHA:1555 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
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Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Dysostosis, Stanescu Type |
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Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hyperlordosi... |
ORPHA:1798 |
Tatton-Brown-Rahman Syndrome |
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Patellar subluxation, Talipes valgus, Sagittal craniosynostosis |
OMIM:615879 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Gene... |
ORPHA:536471 |
Thrombocytopenia-Absent Radius Syndrome |
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Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis |
OMIM:619718 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronchomalacia, Bicoron... |
OMIM:619184 |
Fanconi Anemia, Complementation Group O |
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Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
Thanatophoric Dysplasia Type 2 |
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Micromelia, Short thorax, Limitation of joint mobility, Joint hyperflexibility, Narrow chest, Abn... |
ORPHA:93274 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... |
ORPHA:404440 |
3Mc Syndrome 1 |
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Single interphalangeal crease of fifth finger, Wide anterior fontanel, Short foot, Radioulnar syn... |
OMIM:257920 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Frontal bossing, Rhizomelia, Single transverse palmar crease, Craniosynostosis, Dolichocephaly, C... |
OMIM:614114 |
Cleidocranial Dysplasia 1 |
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Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c... |
OMIM:119600 |
Isolated Klippel-Feil Syndrome |
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Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
Mucolipidosis Ii Alpha/Beta |
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Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Trigonocep... |
OMIM:252500 |
Shprintzen-Goldberg Syndrome |
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Osteopenia, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, C... |
ORPHA:2462 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... |
ORPHA:289157 |
Arthrogryposis, Distal, Type 3 |
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Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Syndactyly, Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Aplasia/Hypoplasia involvi... |
ORPHA:1521 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Chromosome 3Pter-P25 Deletion Syndrome |
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Prominent metopic ridge, Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Br... |
OMIM:613792 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long... |
OMIM:616914 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Renpenning Syndrome |
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Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... |
ORPHA:3242 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Flexion contracture, Coronal cleft vert... |
OMIM:222765 |
Otopalatodigital Syndrome Type 2 |
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Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
Biemond Syndrome Type 2 |
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Preaxial polydactyly |
ORPHA:141333 |
3Mc Syndrome |
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Craniosynostosis, Hip dislocation, Limited pronation/supination of forearm, Radioulnar synostosis... |
ORPHA:293843 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia |
OMIM:184400 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatu... |
ORPHA:3068 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Talipes equinovarus, Absent phalangeal crease, Tarsal synostosis, Cleft palate |
OMIM:618469 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus, Neonata... |
OMIM:224410 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Osteopenia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad meta... |
OMIM:266920 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Cleft lip, Clinodactyly, Cleft palate |
OMIM:614838 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered finger, S... |
OMIM:608156 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short... |
OMIM:600092 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... |
OMIM:253000 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, ... |
OMIM:253010 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Clinodactyly of the 5th finger, F... |
ORPHA:193 |
Kagami-Ogata Syndrome |
|
Long clavicles, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thin ribs, Bell-shap... |
OMIM:608149 |
Scarf Syndrome |
|
Joint hyperflexibility, Short sternum, Craniosynostosis |
ORPHA:3134 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility |
ORPHA:2314 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology,... |
ORPHA:2769 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Limitation of join... |
ORPHA:1272 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta |
ORPHA:1797 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa... |
OMIM:271510 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia |
ORPHA:3004 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Hall-Riggs Syndrome |
|
Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology,... |
ORPHA:2107 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint laxity, Microretrognathia, Short 4th metacarpal, Short clavicles |
OMIM:606220 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Frontal bossing, Brachydactyly, Broad toe, Rhizomelia, Single transverse palmar cre... |
OMIM:218330 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Toe syndactyly, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndacty... |
OMIM:300707 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial ... |
OMIM:616580 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of thu... |
ORPHA:235 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger, Absent fou... |
OMIM:618050 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Ataxia, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Broad palm, Short foot, Short ... |
OMIM:269860 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus carinatum, C... |
OMIM:224690 |
Distal Triplication 15Q |
|
Flexion contracture, Arachnodactyly, Craniosynostosis, Camptodactyly |
ORPHA:314588 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion con... |
OMIM:614976 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Craniosynostosis, Proboscis, Postaxial polydactyly, Postaxial hand polydactyly, ... |
OMIM:605627 |
3Mc Syndrome 2 |
|
Craniosynostosis, Limited elbow movement, Hip dislocation, Radioulnar synostosis, Skull asymmetry... |
OMIM:265050 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... |
ORPHA:397590 |
Aase-Smith Syndrome I |
|
Slender finger, Open mouth, Talipes equinovarus, Cleft palate |
OMIM:147800 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Abnormal rib mo... |
ORPHA:2050 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Mandibular pain, Thi... |
OMIM:607634 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High palate, Clino... |
OMIM:616730 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e... |
ORPHA:1784 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fing... |
ORPHA:335 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral mo... |
ORPHA:93315 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... |
ORPHA:2176 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Decreased palmar creases, Craniosynostosis, Tapered finger, Generali... |
ORPHA:2953 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas... |
OMIM:276820 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Femoral bowing, T... |
OMIM:618188 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Cloverleaf skull, Flat occiput, Overlapping toe, Craniosynostosis, Palmoplantar cutis laxa, Limit... |
OMIM:123790 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Narrow mouth, Calcaneovalgus ... |
OMIM:615065 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Long palm, Craniosynostosis, Rocker bottom foot, Coxa valga, Avascular necrosis o... |
ORPHA:3342 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Joubert Syndrome 37 |
|
Frontal bossing, Prominent metopic ridge, Postaxial polydactyly, Joint hypermobility |
OMIM:619185 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis, Thin ... |
OMIM:612731 |
Frontonasal Dysplasia 2 |
|
Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Calvarial skull defect |
OMIM:613451 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Small hand, Short foot, Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic... |
OMIM:235510 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Long clavicles, Postaxial polyda... |
ORPHA:397715 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy... |
ORPHA:2463 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Mic... |
OMIM:311900 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Abno... |
OMIM:109400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Narrow chest, ... |
ORPHA:96334 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Fi... |
OMIM:614800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Spinal canal stenosi... |
OMIM:307800 |
Marshall-Smith Syndrome |
|
Hallux valgus, Frontal bossing, Prominent fingertip pads, Decreased hip abduction, Large sternal ... |
OMIM:602535 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Thoracolumbar kyphosis, Coxa valga, Hypoplastic vertebral bodies, Limb undergrow... |
OMIM:230600 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Rhizomelia, Single transverse palmar crease, Micrognathia, Square... |
OMIM:611209 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Micrognathia |
OMIM:253310 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Craniosynostosis, Postax... |
OMIM:613610 |
Scarf Syndrome |
|
Coronal craniosynostosis, Short sternum, Lambdoidal craniosynostosis |
OMIM:312830 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Osteopetrosis, Autosomal Dominant 2 |
|
Mandibular osteomyelitis, Abnormality of the vertebral endplates, Abnormal pelvic girdle bone mor... |
OMIM:166600 |
Pediatric-Onset Graves Disease |
|
Small anterior fontanelle, Craniosynostosis |
ORPHA:525731 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis, Sparse eyebrow, ... |
OMIM:302960 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus... |
ORPHA:2311 |
Otosclerosis 8 |
|
Otosclerosis |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis |
OMIM:608244 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Narrow chest, Br... |
ORPHA:1517 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Sandal gap, Sprengel anomaly, Brachydactyly |
ORPHA:2180 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Br... |
ORPHA:309282 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Three M Syndrome 2 |
|
Scapular winging, Short thorax, Pectus carinatum, Thin ribs, Slender long bone, Short 5th finger,... |
OMIM:612921 |
Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Rib fusion, Death in infancy |
OMIM:277300 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Orofacial cleft, Cleft palate, Deep palmar crease... |
ORPHA:1752 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i... |
OMIM:258480 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal widening, ... |
OMIM:260400 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Sparse hair... |
OMIM:139210 |
Kinsship Syndrome |
|
Osteopenia, Death in infancy, Single transverse palmar crease, Coxa valga, Micrognathia, Hip disl... |
OMIM:619297 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
Orofaciodigital Syndrome I |
|
Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ... |
OMIM:311200 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Dental malocclusion, Fine hair, Abnormal pelvic girdle bone morphology, Cl... |
ORPHA:3079 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Femoral bowing, Short long bone, Broad ribs, Talipe... |
OMIM:617022 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Limitation of... |
ORPHA:576 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic gird... |
ORPHA:2115 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... |
ORPHA:2215 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Micrognathia, Flexion contracture, Increased susceptibility to fractures, Thin ... |
OMIM:312150 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Micrognathia, Split h... |
OMIM:200980 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi... |
ORPHA:254528 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Lon... |
OMIM:213980 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Flaring of lower rib cage, Hypoplasia of the odontoid proces... |
OMIM:250250 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly |
OMIM:611134 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone |
ORPHA:3074 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Hypoplasia of the zygomatic bon... |
ORPHA:319171 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Coxa valga, Pectus excavatum, Micrognathia, Flared metaphysi... |
OMIM:309350 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Synophrys, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morp... |
ORPHA:1295 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr... |
ORPHA:171430 |
Hartsfield Syndrome |
|
Craniosynostosis, Ectrodactyly, Hypoplasia of the frontal bone, Syndactyly |
OMIM:615465 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infanc... |
ORPHA:800 |
Raine Syndrome |
|
Death in infancy, Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognat... |
OMIM:259775 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell... |
OMIM:114290 |
Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Carious teeth, Low anterior hairline, Genu valgum, Palmoplantar ker... |
ORPHA:742 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, P... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, P... |
ORPHA:352665 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Camptodactyly of fin... |
ORPHA:468631 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Flaring of rib cage... |
OMIM:612852 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Craniosynostosis, Tapered finger, Flexion contracture, Small hand, Brachycephaly... |
OMIM:309590 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M... |
ORPHA:3206 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm |
ORPHA:238750 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Patellar aplasia... |
ORPHA:2554 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Limb undergrowth, Shor... |
OMIM:225410 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Micrognathia, Flexion contracture, Increased susceptibility to fractures, Thin ... |
OMIM:253290 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly |
ORPHA:1908 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Plagiocephaly, Hip dysplasia |
ORPHA:453499 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Tracheomalacia, Micrognathia, Wide anterior fo... |
OMIM:601390 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, Hip dysplasia, Dela... |
OMIM:620005 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Craniosynostosis, Tracheomalacia |
ORPHA:412069 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Abnormal rib morpho... |
ORPHA:3015 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Narrow chest, Talipes equinovarus, Death in childhood, Li... |
OMIM:619124 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os... |
OMIM:612301 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Hip dislocation, Elbow flexion contracture, Patellar hypoplasia, Knee flexion c... |
ORPHA:3132 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate ... |
OMIM:304150 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Micrognathia, Flexion contracture, Progressive clavicular acroosteolysi... |
OMIM:608612 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... |
ORPHA:2879 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux |
ORPHA:79322 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Upper limb undergrowth, Brachycephaly, Slender long bone, Joint hyp... |
ORPHA:369837 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Low posterior hairline, Genu valgum, Umbilical hernia, Hypoplasia of the z... |
ORPHA:1778 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Mucopolysaccharidosis Type 6 |
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Epiphyseal dysplasia, Joint stiffness, Genu valgum, Broad ribs, Abnormal metaphysis morphology |
ORPHA:583 |
Noonan Syndrome 3 |
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Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Left unilambdoid synos... |
OMIM:609942 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Van Maldergem Syndrome 2 |
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Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Micrognathia, Wid... |
OMIM:615546 |
Meckel Syndrome 14 |
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Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos... |
OMIM:619879 |
Premature Aging Syndrome, Penttinen Type |
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Brachydactyly, Recurrent fractures, Micrognathia, Osteoporosis, Palmoplantar hyperkeratosis, Tibi... |
OMIM:601812 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... |
ORPHA:319675 |
Acromelic Frontonasal Dysostosis |
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Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... |
OMIM:603671 |
Pallister-Hall Syndrome |
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Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
Mosaic Trisomy 8 |
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Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Limitation of j... |
ORPHA:96061 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Osteopenia, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, Flexion contractur... |
OMIM:248370 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Narrow chest, Neonatal death, ... |
OMIM:616482 |
Trisomy 13 |
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Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr... |
ORPHA:3378 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Limb undergrowth, Flexion contracture, Single transverse palmar crease |
ORPHA:79243 |
7Q11.23 Microduplication Syndrome |
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Single transverse palmar crease, Craniosynostosis, Long fingers, Brachycephaly, Dolichocephaly, T... |
ORPHA:96121 |
Trichothiodystrophy |
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Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
Otosclerosis 1 |
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Otosclerosis |
OMIM:166800 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
Microlissencephaly-Micromelia Syndrome |
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11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases |
ORPHA:50810 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Arboleda-Tham Syndrome |
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Frontal bossing, Brachydactyly, Sandal gap, Deviation of the hallux, Craniosynostosis, Short hall... |
OMIM:616268 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Limb undergrowth, Osteopenia, Joint contracture, Hip dislocation |
OMIM:618005 |
Orofaciodigital Syndrome Type 1 |
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Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... |
ORPHA:2750 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Camptod... |
OMIM:265000 |
Bardet-Biedl Syndrome 1 |
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Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... |
OMIM:300968 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ... |
OMIM:609192 |
Tarp Syndrome |
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Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... |
ORPHA:2886 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Myotubular Myopathy With Abnormal Genital Development |
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Neonatal death, Death in infancy, Joint hypermobility, Thin ribs |
OMIM:300219 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphol... |
ORPHA:1110 |
Lethal Congenital Contracture Syndrome 5 |
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Death in infancy, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
Mckusick-Kaufman Syndrome |
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Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Prominent metopic ridge, Polydactyly |
ORPHA:314655 |
Axial Mesodermal Dysplasia Spectrum |
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Omphalocele, Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal form of the vert... |
ORPHA:1834 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
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Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Hy... |
ORPHA:1968 |
Severe Oculo-Renal-Cerebellar Syndrome |
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Mandibular prognathia, Hypoplasia of the zygomatic bone, Sandal gap, Scoliosis |
ORPHA:2715 |
Spondyloenchondrodysplasia |
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Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Pectus carinatum, Arthritis, Limb un... |
ORPHA:1855 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Narrow chest, Short ribs |
OMIM:616546 |
Tbck-Related Intellectual Disability Syndrome |
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11 pairs of ribs, Broad toe, Pectus excavatum, Osteoporosis, 2-3 toe syndactyly, Broad finger, Li... |
ORPHA:488632 |
Klippel-Trénaunay Syndrome |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Restrictive Dermopathy 2 |
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Microretrognathia, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda... |
OMIM:610168 |
3Mc Syndrome 3 |
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Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Nestor-Guillermo Progeria Syndrome |
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Microretrognathia, Limited elbow movement, Joint stiffness, Micrognathia, Flexion contracture, Os... |
OMIM:614008 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex, Joint stiffness, Broad palm, Broad phalanges of the hand, Broad ribs, Broad met... |
OMIM:277600 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Loeys-Dietz Syndrome |
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Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility |
ORPHA:60030 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Osteopenia, Wide anterior fontanel, Sagittal craniosynostosis |
OMIM:610199 |
Autosomal Recessive Robinow Syndrome |
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Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
Caudal Regression Syndrome |
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Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Hypoplastic vertebral bodies, A... |
ORPHA:3027 |
Ctcf-Related Neurodevelopmental Disorder |
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Osteopenia, Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Craniosynostosis, ... |
ORPHA:363611 |
Gm1 Gangliosidosis |
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Camptodactyly of finger, Joint stiffness, Abnormal diaphysis morphology, Abnormal epiphysis morph... |
ORPHA:354 |
Miller-Dieker Lissencephaly Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat... |
OMIM:247200 |
Congenital Myopathy 22B, Severe Fetal |
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Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
Hajdu-Cheney Syndrome |
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Short neck, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Hernia, Generalized hirs... |
ORPHA:955 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Sprengel anomaly, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Myhre Syndrome |
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Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Abnormal epip... |
ORPHA:2588 |
Mucopolysaccharidosis, Type Iiib |
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Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
Marbach-Rustad Progeroid Syndrome |
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Micrognathia, Femur fracture, Short clavicles, Reduced bone mineral density |
OMIM:619322 |
Lenz-Majewski Hyperostotic Dwarfism |
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Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... |
OMIM:151050 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
Prune Belly Syndrome |
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Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus |
ORPHA:2970 |
Hurler Syndrome |
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Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Abnormality of the elbow... |
ORPHA:93473 |
Osteopathia Striata With Cranial Sclerosis |
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Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Pectus excavatum, Thora... |
OMIM:300373 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Small hand, Short clavicles, Tapered finger |
ORPHA:401923 |
Gapo Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars... |
ORPHA:2067 |
Hyperlysinemia |
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Craniosynostosis |
ORPHA:2203 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, Abnormal epiphysis morphology,... |
ORPHA:2637 |
Aneurysm-Osteoarthritis Syndrome |
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Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli... |
ORPHA:284984 |
Sirenomelia |
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Spina bifida, Sirenomelia |
ORPHA:3169 |
Cerebrocostomandibular Syndrome |
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Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... |
OMIM:117650 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Palmoplantar keratoderma, Craniosynostosis |
ORPHA:79396 |
Mullegama-Klein-Martinez Syndrome |
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Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... |
OMIM:301022 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal fi... |
ORPHA:1812 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Aspergillosis |
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Abnormal long bone morphology, Osteomyelitis, Abnormal rib morphology, Eosinophilia |
ORPHA:1163 |
Otosclerosis 4 |
|
Otosclerosis |
OMIM:611571 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252900 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis |
ORPHA:2136 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Frontal bossing, Craniosynostosis, Joint hypermobility |
OMIM:617506 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Short philtrum, Open mouth |
OMIM:614424 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs, Irregular acetabular roof |
OMIM:619698 |
Gabriele-De Vries Syndrome |
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Hallux valgus, Sydney crease, Sandal gap, Craniosynostosis, Patellar subluxation, Distal arthrogr... |
ORPHA:506358 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Abnormal pelvic girdle bone morpho... |
ORPHA:289 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Rib fusion, Cutaneous syndactyly, ... |
OMIM:148050 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Long fingers, Wide anterior... |
OMIM:617746 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Decreased fibular diameter, Pectus excavatum, Joint stiffness, Micrognath... |
OMIM:619127 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Abnormality of the humeroulnar joint |
ORPHA:2234 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal morphology of ulna, Failure to thrive in infancy, Short... |
ORPHA:1340 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Craniosynostosis, Upper limb peromelia, Brachycephaly, Thickene... |
ORPHA:1299 |
Opitz Gbbb Syndrome |
|
Tracheomalacia, Prominent metopic ridge, Large fontanelles, Craniosynostosis |
ORPHA:2745 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Craniosynostosis, Ankle flexion contracture, A... |
OMIM:268300 |
Doors Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A... |
ORPHA:79500 |
Adnp Syndrome |
|
Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology,... |
ORPHA:404448 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Joint stiffness, Hypoplasia of the odontoid process, Metaphyseal widening, ... |
OMIM:253200 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm... |
ORPHA:79345 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ... |
OMIM:607014 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Small anterior fontanelle, Polyd... |
OMIM:300960 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... |
OMIM:619727 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Deep palmar cr... |
OMIM:612289 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi... |
OMIM:617527 |
Zttk Syndrome |
|
Frontal bossing, Craniosynostosis, Flexion contracture, Small hand, Short foot, Midface retrusion... |
OMIM:617140 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micrognathia, Limitat... |
ORPHA:99776 |
Toluene Embryopathy |
|
Hypoplasia of the zygomatic bone, Micrognathia, Tapered finger |
ORPHA:1920 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Clino... |
ORPHA:457284 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Broad palm, Elbow flexion ... |
OMIM:608328 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology |
ORPHA:2578 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Joint laxity, Hand muscle atrophy, Prominent fingertip pads, Arachnodactyly, A... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Joint laxity, Hand muscle atrophy, Prominent fingertip pads, Arachnodactyly, A... |
ORPHA:363958 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem... |
OMIM:269150 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Cloverleaf skull, Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bo... |
OMIM:201750 |
Degcags Syndrome |
|
Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Short thumb, Preaxial hand polydactyly,... |
OMIM:619488 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spli... |
ORPHA:2092 |
Peters-Plus Syndrome |
|
Joint laxity, Frontal bossing, Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar... |
OMIM:261540 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Clinodactyly of the 5th finger, Sp... |
ORPHA:52 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Joint stiffness, Metatarsus val... |
ORPHA:744 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Mandibuloacral Dysplasia |
|
Micrognathia, Contractures of the large joints, Osteolytic defects of the distal phalanges of the... |
ORPHA:2457 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
Congenital Sialidosis Type 2 |
|
Ataxia, Polydactyly, Dysmetria |
ORPHA:93400 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Arachnodactyly, Single transverse palmar crease, Overlapping toe, Contracture of the distal inter... |
ORPHA:83617 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Hip dysplasia, Postaxial polydactyly |
OMIM:614576 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Elbow ... |
OMIM:208150 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, Limitation of joint m... |
ORPHA:2990 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicles |
OMIM:617159 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Pectu... |
OMIM:180700 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Hypoplasia of the zygoma... |
OMIM:613603 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long fingers, Ca... |
OMIM:256520 |
Monosomy 9Q22.3 |
|
Palmar pits, Pectus excavatum, Abnormal rib morphology, Joint hyperflexibility, Polydactyly |
ORPHA:77301 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Micrognathia, Thin clavicles, Ankylosis, Flexion cont... |
OMIM:275210 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi... |
OMIM:122470 |
22Q11.2 Deletion Syndrome |
|
Turricephaly, Arachnodactyly, Multiple suture craniosynostosis, Joint hyperflexibility, Arthritis... |
ORPHA:567 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252930 |
Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Cog1-Cdg |
|
Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular ... |
ORPHA:263508 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Desmosterolosis |
|
Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Osteopetrosis |
ORPHA:35107 |
Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pectus excavatum, Pol... |
ORPHA:464306 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, High, narrow palate, High palate, Hypoplastic i... |
OMIM:180849 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Triploidy |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin... |
OMIM:249000 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp... |
ORPHA:887 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Duodenal... |
OMIM:243605 |
Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Micrognathia, Pectus excavatum, Metaphyseal widening, Thin ribs, Slender... |
OMIM:234100 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Micrognathia |
OMIM:614857 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, ... |
ORPHA:3380 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Thin ribs |
ORPHA:169189 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra... |
OMIM:252940 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida |
ORPHA:1393 |
Gm1-Gangliosidosis, Type I |
|
Hypoplastic vertebral bodies, Death in infancy, Thickened ribs, Joint stiffness |
OMIM:230500 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Missing r... |
ORPHA:97360 |
Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2907 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Osteop... |
OMIM:225400 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthrit... |
OMIM:613795 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Ataxia |
ORPHA:163681 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ... |
OMIM:616894 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
Marshall Syndrome |
|
Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Genu valgum, Hypoplasi... |
ORPHA:560 |
Kagami-Ogata Syndrome |
|
Coxa valga, Micrognathia, Limitation of joint mobility, Bell-shaped thorax, Coat hanger sign of r... |
ORPHA:254519 |
Treacher Collins Syndrome 3 |
|
Hypoplasia of the zygomatic bone, Micrognathia |
OMIM:248390 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Postaxial polydactyly, Delayed closure of the anterior fontanelle, Joint contrac... |
OMIM:618460 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Fing... |
ORPHA:508488 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact... |
ORPHA:818 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, Broad ribs, Bro... |
OMIM:301066 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Micrognath... |
ORPHA:280 |
Fryns Syndrome |
|
Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo... |
OMIM:229850 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology |
ORPHA:93941 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Frontal bossing, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hyperextensible hand jo... |
ORPHA:500150 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs |
ORPHA:50 |
Holoprosencephaly |
|
Omphalocele, Failure to thrive in infancy, Highly arched eyebrow, Short neck, Congenital diaphrag... |
ORPHA:2162 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ... |
OMIM:192350 |
C Syndrome |
|
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Pectus excavatum, Limitation of joint... |
ORPHA:1308 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p... |
ORPHA:480880 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Hypo... |
ORPHA:920 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
Pallister-Hall Syndrome |
|
Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cleft lip, Microgloss... |
ORPHA:672 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... |
OMIM:615948 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Absent eyelashes, ... |
OMIM:200110 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingival overgrowth, ... |
OMIM:312870 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Unsteady gait, Choreoathetosis, Polydactyly |
ORPHA:17 |
Monosomy 9P |
|
Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Postaxial hand polyda... |
ORPHA:261112 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Single tran... |
OMIM:194190 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Smith-Lemli-Opitz Syndrome |
|
Microretrognathia, Death in infancy, Overlapping toe, Micromelia, Proximal placement of thumb, Me... |
OMIM:270400 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Rib fusion, Tapered toe, Tapered finger |
ORPHA:544488 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Palmopl... |
ORPHA:2908 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Broad-based gait, Ataxia, Tapered finger, Abnormal toe morphology, Polydactyly, Ga... |
ORPHA:268261 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon cusp, Widened ... |
ORPHA:353277 |
Treacher-Collins Syndrome |
|
Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Ab... |
ORPHA:861 |
X-Linked Mandibulofacial Dysostosis |
|
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the eyebrow, Micrognathia |
ORPHA:1131 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly |
OMIM:619869 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Abnormal rib ... |
ORPHA:534 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele |
ORPHA:2789 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Bilateral camptodacty... |
ORPHA:821 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Legius Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Abnormal sternum morphology, Diaphyseal dysplasia |
ORPHA:137605 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs |
ORPHA:1394 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Hydrocephalus, Meningocele |
OMIM:130720 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Overlapping toe, Micrognathia, Wide anterior fontanel, Abnormal tho... |
ORPHA:798 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... |
OMIM:157800 |
Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormal metac... |
ORPHA:228123 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid... |
OMIM:304050 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo... |
ORPHA:199 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Small for gestational age, Aplasia/Hypoplasia of the phalanges of the thumb, Hypoplasia of the zy... |
ORPHA:556955 |
Leukocyte Adhesion Deficiency Type Ii |
|
Limb undergrowth, Overlapping toe, Broad palm |
ORPHA:99843 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Single transverse palmar crease, Tapered finger,... |
OMIM:619841 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Supernumerary ribs, Vertebral hypoplasia |
OMIM:206900 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Micrognathia, Hip subluxation, Mesomelia |
OMIM:613457 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology |
ORPHA:95494 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Charge Syndrome |
|
Abnormal tibia morphology, Abnormal rib morphology, Bifid femur, Abnormality of bone mineral dens... |
ORPHA:138 |
Superficial Siderosis |
|
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, F... |
ORPHA:261537 |
Yellow Fever |
|
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... |
ORPHA:99829 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Limited wrist movement, Coxa valga, Joint stiffness, Abnormal t... |
ORPHA:740 |
Williams Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly ... |
ORPHA:904 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip... |
ORPHA:2044 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Rib fusion, Short foot, Hip dysplasia... |
ORPHA:1606 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Deep palmar crease, Micromelia |
ORPHA:1675 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Frontal bossing, Syndactyly, Ulnar deviation of the hand, Broad hallux, Long toe, ... |
ORPHA:261552 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia |
OMIM:613717 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Flexion contr... |
OMIM:264090 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis |
ORPHA:2968 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Micrognathia, Pectus excavatum, Osteopetrosis, Prominent floating ribs |
ORPHA:2785 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthr... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthr... |
ORPHA:217093 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Small for gestational age, Hitchhiker thumb, Hypoplasia of the zygomatic bone |
OMIM:618500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Rib fusio... |
OMIM:607872 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Postaxial polydactyly, Broad first metatarsal, Polydactyly, Neonatal deat... |
OMIM:619534 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion |
OMIM:614688 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger |
OMIM:118450 |
Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... |
OMIM:214800 |
Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ... |
ORPHA:709 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida |
ORPHA:508498 |
Jacobsen Syndrome |
|
Spina bifida |
ORPHA:2308 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida |
OMIM:274000 |
Fanconi Anemia |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
ORPHA:84 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Pectus excavatum, Short clav... |
OMIM:309800 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage |
ORPHA:805 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... |
ORPHA:286 |