Robinow syndrome

rare

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

Identifiers: MONDO:0019978 Orphanet:97360
Part of: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Skeletal dysplasia Syndromic disease
Also known as: acral dysostosis with facial and genital abnormalities · costovertebral segmentation defect with mesomelia (formerly) · Covesdem syndrome (formerly) · fetal face syndrome · foetal face syndrome

Subtypes

Disease	ID	Subtypes	Genes
Autosomal dominant Robinow syndrome	MONDO:0008389	3
Autosomal recessive Robinow syndrome	MONDO:0009999		ROR2
Robinow syndrome, autosomal recessive 2	MONDO:0032800		NXN

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