Carpenter Syndrome 2

Alternative Names

  • CRPT2
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614976.1Saudi ArabiaMaleYesYes Abnormal facial shape; Camptodactyly; Sh...NM_001271938.2:c.3550+3_3550+4dup, NM_001271938.2:c.7270-2A>GHeterozygousAutosomal, RecessiveTwigg et al. 2012 Patient has a simila...
© CAGS 2024. All rights reserved.