| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Neurofibromatosis Type 6 |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Cafe-Au-Lait Spots, Multiple |
|
Multiple cafe-au-lait spots |
OMIM:114030 |
| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
| Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Craniofacial Conodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus |
ORPHA:85168 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Deafness, Congenital, With Total Albinism |
|
Albinism |
OMIM:220900 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly |
OMIM:185900 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
| Cerebellar Ataxia And Albinism |
|
Albinism |
OMIM:258300 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... |
ORPHA:241 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
| Albinism, Oculocutaneous, Type Vii |
|
Albinism |
OMIM:615179 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... |
OMIM:145250 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... |
OMIM:617294 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
| Biemond Syndrome Ii |
|
Hydrocephalus, Preaxial hand polydactyly |
OMIM:210350 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... |
OMIM:131960 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Irregular hyperpigmentation |
ORPHA:1336 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus |
OMIM:166990 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
| Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
| Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... |
OMIM:612961 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... |
OMIM:183802 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
| Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Hypertrichosis Lanuginosa Congenita |
|
Generalized hirsutism, Abnormality of skin pigmentation, Thick eyebrow |
ORPHA:2222 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... |
ORPHA:380 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Alopecia, M... |
ORPHA:79397 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis |
OMIM:148800 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Ventriculomeg... |
OMIM:614120 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair |
OMIM:618808 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... |
OMIM:246570 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... |
ORPHA:957 |
| Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin |
OMIM:302000 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Freckling, Hyperpigmentation of the skin |
OMIM:194400 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
| Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
| Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
| Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Giant melanosomes in melanocytes, Albinism |
OMIM:300650 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
| Achondroplasia |
|
Bowing of the legs, Hydrocephalus, Trident hand, Flared metaphysis, Brachydactyly, Short femoral ... |
OMIM:100800 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:3268 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
| Masa Syndrome |
|
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Camptobrachydactyly |
|
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly |
OMIM:114150 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
| Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis, Adducted thumb |
OMIM:307000 |
| Uv-Sensitive Syndrome 1 |
|
Pigmentation anomalies of sun-exposed skin, Freckling |
OMIM:600630 |
| Acalvaria |
|
Postaxial hand polydactyly, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
| Urocanase Deficiency |
|
Fair hair, Blue irides |
OMIM:276880 |
| Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation |
OMIM:610282 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Absent radius |
OMIM:312190 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
| Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
| Porphyria Cutanea Tarda, Type I |
|
Hypertrichosis, Hyperpigmentation of the skin |
OMIM:176090 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
| Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe... |
OMIM:175700 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
| Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
| Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy |
ORPHA:46487 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Aland Island Eye Disease |
|
Albinism |
OMIM:300600 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus |
ORPHA:141333 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Alopecia |
ORPHA:1067 |
| Hydrocephalus With Associated Malformations |
|
Lower limb undergrowth, Tibial bowing, Hydrocephalus, Short lower limbs |
OMIM:236640 |
| Adams-Oliver Syndrome 3 |
|
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... |
OMIM:614814 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Sclerosteosis |
|
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand |
ORPHA:3152 |
| Uv-Sensitive Syndrome 3 |
|
Freckling |
OMIM:614640 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... |
ORPHA:370010 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Mend Syndrome |
|
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long finger... |
OMIM:300960 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... |
ORPHA:166024 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Clinodactyly |
OMIM:610023 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Brittle hair, Freckling, Fine hair, Melanocytic nevus |
ORPHA:1573 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Clinodactyly, Finger syndactyly |
ORPHA:251046 |
| Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Hyp... |
ORPHA:2251 |
| Meckel Syndrome, Type 3 |
|
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital enc... |
OMIM:607361 |
| 1Q21.1 Microduplication Syndrome |
|
Hip dislocation, Hip dysplasia, Hydrocephalus, Talipes equinovarus |
ORPHA:250994 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia of the distal... |
OMIM:113000 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentati... |
OMIM:104100 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Abnormality of skin pigmentation, Nail dystrophy, Scarring alopecia ... |
ORPHA:79402 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Forearm undergrowth, Hydrocephalus, Absent thumb, Ventriculomegaly, Bowed forearm bones, Absent r... |
OMIM:602200 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Carpenter Syndrome |
|
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
| Vogt-Koyanagi-Harada Disease |
|
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... |
ORPHA:3437 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Broad hallux, Broad metatarsal, Hallux varus, Short metatarsal, Calcaneonavic... |
OMIM:123150 |
| Charlie M Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly |
ORPHA:1406 |
| Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Long hallux, Hydrocephalus, Broad hallux, Short foot, Elbow flexion contracture, Proximal placeme... |
OMIM:613776 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Broad hallux phalanx, Short hallux, Broad thumb, Hallux varus, Short foot, S... |
ORPHA:93258 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Congenital Ptosis |
|
Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Abnormality of skin pigmentation, Anonychia, Nail dystrophy |
ORPHA:79411 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair |
ORPHA:79476 |
| Idiopathic Trachyonychia |
|
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... |
ORPHA:79153 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis, Adducted thumb |
ORPHA:275543 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... |
OMIM:300244 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Summitt Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Genu valgum, Short 4th me... |
ORPHA:3210 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... |
OMIM:601375 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Hydrocephalus, Shoulder dislocation, Adducted thumb |
ORPHA:2181 |
| Diencephalic Syndrome |
|
Large hands, Hydrocephalus |
ORPHA:1672 |
| Limb-Mammary Syndrome |
|
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand |
OMIM:603543 |
| Cousin Syndrome |
|
Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 t... |
OMIM:260660 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Syndactyly, Polydactyly, Ventriculomegaly |
OMIM:602501 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Ch... |
OMIM:617866 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malformation |
OMIM:147800 |
| Developmental And Epileptic Encephalopathy 36 |
|
Small hand, Hydrocephalus |
OMIM:300884 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:614072 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... |
OMIM:300863 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
| Metatropic Dysplasia |
|
Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of finger, Mi... |
ORPHA:2635 |
| Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Finger syndactyly, Broad thumb, Ventriculomegaly, Foot polydactyly,... |
ORPHA:1553 |
| Clouston Syndrome |
|
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... |
OMIM:129500 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Grange Syndrome |
|
Short palm, Syndactyly |
ORPHA:79094 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Brachydactyly, Hydrocephalus, Sandal gap |
OMIM:600991 |
| Curry-Jones Syndrome |
|
Cutaneous syndactyly of toes, Syndactyly, Duplication of thumb phalanx, Broad thumb, Ventriculome... |
OMIM:601707 |
| Retinohepatoendocrinologic Syndrome |
|
Abnormality of skin pigmentation |
OMIM:268040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
| Vacterl Association With Hydrocephalus |
|
Radial club hand, Hydrocephalus, Aqueductal stenosis, Absent thumb |
OMIM:276950 |
| Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Hyperpigmentation of the skin |
OMIM:133750 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Arrh... |
ORPHA:1788 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, 2-3 finger syndactyly, Spina bifida oc... |
ORPHA:2437 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... |
ORPHA:158681 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
| Darier Disease |
|
Hypermelanotic macule, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, Abno... |
ORPHA:218 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Nail dysplasia, Sparse scalp hair, Abnormality of skin pigmentation, Sparse eyebrow |
OMIM:225050 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
| Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... |
ORPHA:894 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Cubitus valgus, Short 4th metacarpal |
ORPHA:2183 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology |
ORPHA:1810 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus |
ORPHA:83473 |
| Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair |
OMIM:270750 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... |
ORPHA:79434 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
| Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis, Small hand, Broad hallux phalanx, Short hallux, Deviation of ... |
ORPHA:93259 |
| Pfeiffer Syndrome |
|
Hydrocephalus, Elbow ankylosis, Short middle phalanx of toe, Syndactyly, Broad hallux, Broad thum... |
OMIM:101600 |
| Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Hydrocephalus, Oligodactyly |
ORPHA:3016 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly |
ORPHA:1825 |
| Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus |
OMIM:300864 |
| Hypomelanosis Of Ito |
|
Hand polydactyly, Syndactyly, Clinodactyly, Radial deviation of finger |
OMIM:300337 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Syndactyly, Camptodactyly, Broad hallux, Clinoda... |
OMIM:300963 |
| Oculocutaneous Albinism Type 2 |
|
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypo... |
ORPHA:163966 |
| Poland Syndrome |
|
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
| Temple Syndrome |
|
Small hand, Short foot, Hydrocephalus, Clinodactyly |
OMIM:616222 |
| Mohr Syndrome |
|
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hydroc... |
OMIM:252100 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... |
OMIM:609638 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
| Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
| Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... |
ORPHA:999 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:352731 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Micromelia, Postaxial hand polydactyly, Hip dislocation, Occipital encephalocele |
OMIM:241800 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Clinodactyly, Ulnar deviation of the wrist, Ventriculomegaly |
OMIM:618577 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly, Hand polydactyly, Foot polydactyly, Finger syndactyly, Toe synda... |
ORPHA:60040 |
| Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Hydrocephalus, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Cam... |
ORPHA:2839 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Finger clinodactyly |
OMIM:616489 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Arachnodactyly, Brachydactyly, Syndactyly, Clinodactyly, Rudimenta... |
OMIM:600325 |
| Muenke Syndrome |
|
Carpal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Tarsal synostosis, Short palm |
ORPHA:53271 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Red hair |
ORPHA:71526 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad hallux, Broad thumb, Syndactyly |
OMIM:613684 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Hypoplastic toenails, Freckling |
ORPHA:1547 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Monosomy 5P |
|
Small hand, Finger syndactyly |
ORPHA:281 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly |
ORPHA:1445 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Short humerus, Hand polydactyly, Proximal placement of thumb, Absent radius |
OMIM:314390 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus |
ORPHA:1861 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Micromelia, Anencephaly, Mesomelia, Spinal dysraphism, Meningoc... |
ORPHA:1908 |
| Achondroplasia |
|
Bowing of the legs, Hydrocephalus, Abnormal iliac wing morphology, Narrow greater sciatic notch, ... |
ORPHA:15 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Postaxial hand polydactyly, Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation |
OMIM:220220 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Mesomelia, Syndactyly |
OMIM:228940 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Hydrocephalus, Joint contracture of the hand, Narrow great... |
OMIM:224400 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Bilateral talipes equinovarus |
OMIM:616521 |
| Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly |
OMIM:609428 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly |
OMIM:219730 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Clinodactyly of the 5th finger |
ORPHA:1516 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Brachydactyly, Postaxial hand ... |
OMIM:615630 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Broad thumb, Syndactyly |
OMIM:617364 |
| Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
| Oculocutaneous Albinism Type 1A |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... |
ORPHA:79431 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Slender finger, Long fingers, Ulnar deviation of finger |
ORPHA:1895 |
| Temple Syndrome |
|
Small hand, Hydrocephalus, Clinodactyly of the 5th finger, Short foot |
ORPHA:254516 |
| Thanatophoric Dysplasia |
|
Hydrocephalus, Micromelia, Brachydactyly, Abnormal ilium morphology, Ventriculomegaly, Abnormal m... |
ORPHA:2655 |
| Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
| Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, En... |
OMIM:611134 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
| Klippel-Trenaunay-Weber Syndrome |
|
Hand polydactyly, Macrodactyly, Syndactyly, Hand oligodactyly |
OMIM:149000 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Holoprosencephaly, Brachydactyly, Micromelia, Ventriculomegaly, Abnormal metaphysi... |
ORPHA:93274 |
| Acromelic Frontonasal Dysostosis |
|
Talipes equinovarus, Preaxial polydactyly, Choroid plexus cyst, Syndactyly, Polydactyly, Ventricu... |
OMIM:603671 |
| Endocrine-Cerebroosteodysplasia |
|
Ulnar deviation of the hand, Hydrocephalus, Postaxial polydactyly, Preaxial polydactyly, Holopros... |
OMIM:612651 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... |
OMIM:203100 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
| Salt And Pepper Developmental Regression Syndrome |
|
Abnormality of skin pigmentation, Hypermelanotic macule |
OMIM:609056 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hydrocephalus, Radioulnar synostosis, Bowing of the long bones, Short palm, Toe syndactyly |
ORPHA:171839 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Deviation of the 5th finger, Hydrocephalus, Postaxial polydactyly, Broad hallux, Ventriculomegaly... |
OMIM:616362 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Myelomeningocele, Hydrocephalus, Brachydactyly, Epiphyseal stippling |
ORPHA:1914 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Communicating hydrocephalus |
OMIM:273730 |
| Holt-Oram Syndrome |
|
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... |
ORPHA:392 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, Brachydactyly, Short gr... |
ORPHA:1860 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand muscle weakness, Hydrocephalus, Abnormality of the hand, Paresis of extensor muscles of the ... |
ORPHA:99947 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Ru... |
OMIM:304120 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial hand polydactyly, 2-3 finger syndactyly, Broad hallux |
OMIM:217085 |
| Griscelli Syndrome Type 2 |
|
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79477 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Moebius Syndrome |
|
Talipes equinovarus, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Radial de... |
OMIM:157900 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
| Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... |
OMIM:186500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Palmar hyperkeratosis, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Hydrocephalus, Talipes equinovarus, Adducted thumb, Cutaneous syndactyly, Overla... |
OMIM:617822 |
| Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Hyperpigmentation of the skin |
OMIM:103230 |
| Carney Complex, Type 1 |
|
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair |
OMIM:160980 |
| Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Weaver Syndrome |
|
Talipes equinovarus, Camptodactyly of finger, Large hands, Broad thumb, Sandal gap, Abnormal meta... |
ORPHA:3447 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Tarsal synosto... |
ORPHA:3429 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... |
OMIM:236500 |
| Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow |
OMIM:600501 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Brachydactyly, Rhizomelia, Abnorm... |
ORPHA:1515 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bo... |
ORPHA:1106 |
| Rhombencephalosynapsis |
|
Hydrocephalus, Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Ventr... |
ORPHA:59315 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Hydrocephalus, Abnormal metacarpal morphology, Genu valgum, Abnor... |
ORPHA:53 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... |
OMIM:619451 |
| Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613266 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo |
OMIM:221350 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal metacarpal morphology, Hydrocephalus, Brachydactyly |
ORPHA:93262 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Fin... |
ORPHA:2994 |
| Laurence-Moon Syndrome |
|
Hand polydactyly, Bilateral single transverse palmar creases, Brachydactyly, Finger syndactyly |
ORPHA:2377 |
| Cronkhite-Canada Syndrome |
|
Hypoplastic toenails, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyeb... |
ORPHA:2930 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Vitiligo, Multiple lentigines |
ORPHA:101003 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Prominent fingertip pads |
OMIM:300558 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly |
ORPHA:2770 |
| Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Generalized hirsutism, Abnormality of skin pigmentation, Hypo... |
ORPHA:626 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Short hallux, Abnormal metacarpal morphology, Ventriculomegaly, Finger syndactyly, Toe syndactyly |
ORPHA:3224 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Metaphyseal irregularity, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses, Brachydactyly, ... |
OMIM:618162 |
| Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Abnormality of limb bone, Syndactyly, Abnormal pelvis bone ossif... |
ORPHA:166119 |
| Waardenburg Syndrome, Type 3 |
|
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... |
OMIM:148820 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Hydrocephalus, Dandy-Walker malformation, Congenital hip dislocat... |
ORPHA:1647 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Brachydactyly, Micromelia, Syndactyly, Single transverse palmar crease, Sandal gap |
OMIM:614800 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Hydrocephalus, Brachydactyly |
ORPHA:2701 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Symphalangism affecting the phalanges... |
ORPHA:710 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hypoplasia of th... |
ORPHA:2256 |
| Craniofrontonasal Dysplasia |
|
Clinodactyly of the 5th finger, Broad hallux phalanx, Down-sloping shoulders, Camptodactyly of fi... |
ORPHA:1520 |
| Acrofacial Dysostosis 1, Nager Type |
|
Overlapping toe, Short toe, Hydrocephalus, Talipes equinovarus, Aqueductal stenosis, Absent thumb... |
OMIM:154400 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Syndactyly, Clinodactyly |
OMIM:619092 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Hydrocephalus, Femoral bowing, Hypopl... |
OMIM:187600 |
| Crane-Heise Syndrome |
|
Short distal phalanx of finger, Talipes equinovarus, Aplastic clavicle, Hypoplastic scapulae, Ven... |
ORPHA:1512 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... |
ORPHA:3440 |
| Lelis Syndrome |
|
Yellow nails, Sparse hair, Vitiligo, Perioral hyperpigmentation, Abnormal toenail morphology, Nai... |
ORPHA:140936 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hip dislocation, Hydrocephalus, Coxa valga, Ventriculomegaly |
OMIM:109120 |
| Adams-Oliver Syndrome 6 |
|
Brachydactyly, Syndactyly, Foot oligodactyly |
OMIM:616589 |
| Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair |
ORPHA:100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair |
OMIM:618541 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy |
OMIM:613988 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, Hydrocephalus, Sandal gap |
ORPHA:2180 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Filippi Syndrome |
|
Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly, 2-4 toe syndactyly |
OMIM:272440 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Hydrocephalus, Brachydactyly, Abnormality of the upp... |
ORPHA:974 |
| Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial polydactyly |
OMIM:614424 |
| Gorlin Syndrome |
|
Arachnodactyly, Palmar pits, Hydrocephalus, Brachydactyly |
ORPHA:377 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... |
ORPHA:3214 |
| Porokeratosis |
|
Abnormality of skin pigmentation |
ORPHA:79358 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrocephalus |
OMIM:269920 |
| Hermansky-Pudlak Syndrome 11 |
|
Ocular albinism, Fair hair, Albinism, Iris transillumination defect, Melanocytic nevus |
OMIM:619172 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly |
ORPHA:261272 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Split hand, Brachydactyly, Micromelia, Finger syndactyly |
ORPHA:2145 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hydrocephalus, 2-3 toe syndactyly, 3-4 finger cutaneous syndactyly, Camptodactyly of finger, Sing... |
OMIM:619951 |
| Hermansky-Pudlak Syndrome 7 |
|
Albinism, Ocular albinism |
OMIM:614076 |
| Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... |
OMIM:203300 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Gracile Bone Dysplasia |
|
Flared metaphysis, Hydrocephalus, Brachydactyly, Slender long bone |
OMIM:602361 |
| Mental Retardation, Buenos Aires Type |
|
Hydrocephalus, Clinodactyly of the 5th finger |
OMIM:249630 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Hydrocephalus, Talipes equinovarus, Hypoplastic ilia, Micromelia, Hypoplastic... |
ORPHA:1865 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Syndactyly, Dandy-Walker malformation |
OMIM:220210 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation |
ORPHA:745 |
| Cenani-Lenz Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... |
ORPHA:3258 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Brachydactyly, Micromelia, Syn... |
OMIM:617895 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Sparse hair, Nail dystrophy, Alopecia |
OMIM:616353 |
| Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
| Classic Phenylketonuria |
|
Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... |
OMIM:615503 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
| Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Slender toe, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Postaxial polydactyly, Micromelia, Polydactyly, Brachydactyly, Sy... |
OMIM:614091 |
