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GENATLAS PHENOTYPE

last update : 07-10-2014

Symbol	ECTDS
Location	8q22.3
Name	ectodermal dysplasia/short stature syndrome
Corresponding gene	GRHL2
Main clinical features	short stature, nail dystrophy and/or loss, hyperpigmentation of the oral mucosa and/or tongue, abnormal dentition including delay, hypodontia, and enamel hypoplasia, keratoderma involving the margins of the palms and soles, and focal hyperkeratosis of the dorsal aspects of the hands and feet associated to deafness no hair or sweating abnormalities, wound-healing defects, a blistering tendency, or other developmental anomalies
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	osteo-articular
Type	disease

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