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GENATLAS PHENOTYPE

last update : 01-08-2009

Symbol	SMMD
Location	4p15.33
Name	spondylomegaepiphyseal-metaphyseal dysplasia
Corresponding gene	NKX3-2
Main clinical features	short trunk and neck with relatively long limbs finger and toes, no exraskeletal anomalies , normal intelligence radiographically, underossification of the vertebral bodies, cervical spine with spinal cord deformity with pyramidal syndrome and progressive hydrocephalus, and peculiar ossification pattern of hand bones
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)