SEMD, short limb-hand type

Definition:

Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition include short stature with typical short hands and broad, puffy fingers, a narrow chest, and a characteristic craniofacial appearance. Their long bones are short due to premature epiphyses and irregular metaphyses.

References:

[1]. Beyhan Tüysüz, et al. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type. Pediatr Radiol. 2009 Jan;39(1):84-9. [Content Brief]

[2]. Ruth Bargal, et al. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet. 2009 Jan;84(1):80-4. [Content Brief]

[3]. Sarah F Smithson, et al. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol. 2009 Jan;18(1):31-35. [Content Brief]

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