Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 25-05-2010

Symbol	MMDW
Location	7q36
Name	Werner mesomelic syndrome
Corresponding gene	SHH
Main clinical features	hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs digitalization of the thumb, short lower limbs with aplasia of the tibias, and polydactyly of the toes
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

Remark(s)

. point mutations of a specific nucleotide within the sonic hedgehog (SHH) regulatory region (ZRS), leading to strong ectopic SHH expression and cause MMDW