Developmental delay with short stature, dysmorphic facial features, and sparse hair-1 (DEDSSH1) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Craniosynostosis most often with a broad forehead, central nervous system malformations, cardiac defects, genital anomalies, or hypotonia may also be present (summary by Urreizti et al., 2020).
Genetic Heterogeneity of Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair
DEDSSH2 (620062) is caused by mutation in the DPH2 gene (603456) on chromosome 1p34. [from
OMIM]