Hirschsprung disease-hearing loss-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome is an extremely rare condition that has been described in only two siblings. It is characterized by a combination of features including Hirschsprung disease, polydactyly (extra fingers or toes), unilateral renal agenesis (absence of one kidney), hypertelorism (widely spaced eyes), and congenital deafness. The hallmark of the syndrome is Hirschsprung disease, where a part of the colon lacks the nerve cells needed for normal movement, leading to symptoms like constipation and abdominal distension. The addition of other physical malformations makes this syndrome unique and has been noted in the medical literature since 1988.

People with this condition may experience symptoms of Hirschsprung disease, including constipation and abdominal distension due to a missing nerve supply in part of the colon. Other features include polydactyly (extra digits), unilateral renal agenesis (absence of one kidney), hypertelorism (wide spacing of the eyes), and congenital deafness.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Since this syndrome has been described in only two siblings and has not been further documented in the literature since 1988, research into its causes, diagnosis, and treatment is very limited.