Hirschsprung disease-type D brachydactyly syndrome

Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.



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

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0002251 Aganglionic megacolon Very frequent (99-80%)
HP:0010624 Aplastic/hypoplastic toenail Very frequent (99-80%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001804 Hypoplastic fingernail Frequent (79-30%)
HP:0009650 Short distal phalanx of the thumb Frequent (79-30%)
HP:0010111 Short phalanx of hallux Frequent (79-30%)


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