Hirschsprung disease-type D brachydactyly syndrome

Hirschsprung disease-type D brachydactyly syndrome is a rare condition that is defined by the presence of Hirschsprung disease and a specific hand and foot abnormality known as type D brachydactyly. This means that individuals with this condition may have a lack or underdevelopment of the nails and the distal parts of the thumbs and great toes. The condition has been observed in a single family, affecting four males. The pattern of inheritance appears to be X-linked recessive, although an autosomal dominant form with incomplete penetrance in females cannot be ruled out. This overview is based on the available description in the trusted sources.

People with this condition experience features of Hirschsprung disease along with physical findings in the digits. Specifically, there may be an absence or underdevelopment of the nails and the distal phalanges (end parts of the fingers and toes), most notably on the thumbs and great toes. Detailed symptom information beyond these features is limited in the current sources.

The cause of Hirschsprung disease-type D brachydactyly syndrome is related to genetic factors. The reported cases in one family suggest that the condition may be inherited in an X-linked recessive pattern. However, a possibility of autosomal dominant inheritance with incomplete penetrance in females has also been mentioned. There is no additional gene-specific information available from the provided sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.