Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 10-11-2010

Symbol	PSMQ2
Location	12q24.11
Name	pseudo-Morquio syndrome type 2
Other name(s)	spondyloepiphyseal dysplasia (SED) of Maroteaux parastremmatic dysplasia
Corresponding gene	TRPV4
Main clinical features	platyspondyly, but there is no tongue-like deformity of the vertebral bodies, normal Intelligence and there is no clouding of the cornea or mucopolysacchariduria; hands and feet are short and stubby pelvic inlet is described as having a champagne-glass configuration, genu valgum
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

Remark(s)