Hirschsprung disease-hearing loss-polydactyly syndrome
An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0021189
intestinal motility disease
is_a
Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness
narrow
Hirschsprung disease with polydactyly, renal agenesis, and deafness
narrow
Hirschsprung disease, deafness and polydactyly
narrow
Hirschsprung disease-deafness-polydactyly syndrome
narrow
Santos Mateus Leal syndrome
related
Santos-Mateus-Leal syndrome
exact