Congenital heart defects, hamartomas of tongue, and polysyndactyly

Definition:

Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP), also known as Ostravik-Lindemann-Solberg syndrome, is a rare, autosomal recessive disorder characterized by coarctation of the aorta with or without atrioventricular canal, hamartomas of the tongue, and polysyndactyly. CHDTHP patients with mutations in WDPCP have been identified. WDPCP is a gene that regulates planar cell polarity and ciliogenesis.

References:

[1]. Ange-Line Bruel, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet. 2017 Jun;54(6):371-380. [Content Brief]

[2]. Jonathan Saari, et al. Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas. Am J Med Genet A. 2015 Feb;167A(2):421-7. [Content Brief]

[3]. K H Orstavik, et al. Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother. Clin Genet. 1992 Jul;42(1):19-21. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.