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GENATLAS PHENOTYPE

last update : 26-08-2013

Symbol	SMCD2
Location	4p31.1
Name	Smith-McCort dysplasia 2
Corresponding gene	RAB33B
Main clinical features	osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests mental retardation absent ( different of Dyggve-Melchior-Clausen syndrome)
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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