Summitt syndrome
Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.
MONDO:0015338
syndromic craniosynostosis
is_a
Summitt syndrome
exact
Summitt's acrocephalosyndactyly
related
recessive acrocephalosyndactyly with normal intelligence
related