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GENATLAS PHENOTYPE

last update : 24-01-2009

Symbol	SEMD5
Location	1q23.3
Name	spondyloepimetaphyseal dysplasia, type 5
Other name(s)	short limb-abnormal calcification type syndrome
Corresponding gene	DDR2
Other symbol(s)	SMEDSL
Main clinical features	disproportionate, short stature, platyspondyly, abnormal epiphyses and metaphyses, shortening of the lower and upper limbs, short, broad fingers and premature calcifications at radiography, irregular widened distal radius and ulna with short metacarpals, meta-epiphyseal widening and distal pointing, widened ribs , heavily calcified larynx and tracheal rings
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)

. can result from at least two different loss-of-function mechanisms: namely defects in DDR2 targeting to the plasma membrane or the loss of its ligand-binding activity (Ali 2010)