Carpenter Syndrome 2

Alternative Names

  • CRPT2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

614976

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19q13.2

Description

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

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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...
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