Developmental delay with short stature, dysmorphic facial features, and sparse hair

Definition:

Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies. It has been reported that DPH1 is responsible gene for DEDSSH.

References:

[1]. Catrina M Loucks, et al. Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Hum Mutat. 2015 Oct;36(10):1015-9. [Content Brief]

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