Intellectual disability-polydactyly-uncombable hair syndrome

Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000446 Narrow nasal bridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001595 Abnormal hair morphology Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0001991 Aplasia/Hypoplasia of toe Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002217 Slow-growing hair Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004299 Hernia of the abdominal wall Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0006265 Aplasia/Hypoplasia of fingers Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0009896 Abnormality of the antitragus Very frequent (99-80%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Very frequent (99-80%)
HP:0010059 Broad hallux phalanx Very frequent (99-80%)
HP:0010508 Metatarsus valgus Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)
HP:0030056 Uncombable hair Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID