Preferred Label : Dermochondrocorneal dystrophy;
ICD-11 definition : Dermochondrocorneal dystrophy is a rare autosomal recessive genetic disorder characterized
by abnormalities in the skin, the bones of the extremities and the corneae. Nodules
resembling xanthomata develop over the dorsa of the fingers, the tips of the elbows
and on the nose and ears; their histogenesis is unclear but may be due to anomalous
control of fibroblast or chondrocyte proliferation and secretion. Deformities of the
hands and feet result from abnormal ossification of cartilage. Additionally, anterior
central opacities develop in the corneae.;
Origin ID : 1305138145;
Currated CISMeF NLP mapping
Dermochondrocorneal dystrophy is a rare autosomal recessive genetic disorder characterized
by abnormalities in the skin, the bones of the extremities and the corneae. Nodules
resembling xanthomata develop over the dorsa of the fingers, the tips of the elbows
and on the nose and ears; their histogenesis is unclear but may be due to anomalous
control of fibroblast or chondrocyte proliferation and secretion. Deformities of the
hands and feet result from abnormal ossification of cartilage. Additionally, anterior
central opacities develop in the corneae.
