Hirschsprung disease-type D brachydactyly syndrome
MONDO:0016294
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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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Hirschsprung's disease-type D brachydactyly syndrome
Hirschsprung's disease-type D brachydactyly syndrome is a very rare genetic disorder which is characterized by the partial absence of nerves in the intestines (Hirschsprung's disease) and hypoplasia (or total aplasia) of the thumb's distal phalange (brachydactyly type D). It has been described in 4 males from a 2-generation American family. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.