camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
exact
camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
related