NEK9-related lethal skeletal dysplasia

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NEK9-related lethal skeletal dysplasia

Synonyms: Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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NEK9-related lethal skeletal dysplasia?

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