Agent Commons Collaborative Research

NEK9-related lethal skeletal dysplasia

rare

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

Identifiers
MONDO:0014870 OMIM:617022Orphanet:464366
Causal genes
NEK9
Part of
Lethal congenital contracture syndromeShort rib dysplasiaThoracic malformation
Also known as
LCCS10 · lethal congenital contracture syndrome 10 · lethal congenital contracture syndrome type 10 · lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

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