Hamamy syndrome

Definition:

Hamamy syndrome (HMMS) is a rare autosomal recessive syndrome comprising severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Patients have severe myopia, mild to moderate sensori-neural hearing loss and borderline intelligence. It has been reported that mutations in IRX5 cause HMMS by repressing SDF1. SDF1 encodes a chemokine essential for cranial neural crest cell migration.

References:

[1]. Carine Bonnard, et al. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13;44(6):709-13. [Content Brief]

[2]. Hanan A Hamamy, et al. Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome?. Am J Med Genet A. 2007 Feb 1;143A(3):229-34. [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.