Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals.

Abstract

Orofaciodigital syndrome type-VI (Varadi-Papp Syndrome) is a rare autosomal recessive disorder characterized by variable orofacial anomalies, central polydactyly of the hands, and cerebellar dysgenesis (mainly hypoplasia or aplasia of vermis, rarely Dandy-Waker anomaly). Here a case of Varadi-Papp syndrome with recurrent episodic tachypnea-apnea, minimal orofacial features, several Y-shaped metacarpals, and cerebellar vermis hypoplasia, diagnosed in the neonatal age, is reported for the first time in Indian literature. The importance of early accurate diagnosis of this rare disease for proper genetic counseling and prenatal case detection of pregnancy at risk is also emphasized as the prognosis is poor in almost all cases.

• Authors: Pulak R Mahato, Shashi B Pandey
• Journal: Indian journal of human genetics (Indian J Hum Genet) Vol. 18 Issue 3 Pg. 376-8 (Sep 2012) ISSN: 0971-6866 [Print] India
• PMID: 23716954 (Publication Type: Case Reports)