This website provides information on patients with mutations in the DPH1 gene, including clinical data, molecular data, management and research options.

Developmental delay with short stature, dysmorphic features and sparse hair (DEDSSH), also called DPH1 syndrome caused by mutations in the DPH1 gene is a multisystem disorder characterized by intellectual disability, short stature, unusual head shape, craniofacial dysmorphism and ectodermal anomalies.

Not all individuals with a mutation in the DPH1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the DPH1 gene.

Ivan Fai-man Lo, MD, Clinical Genetic Service, Department of Health, Hong Kong, China, con_cg@dh.gov.hk

Ho-ming Luk, MD, Clinical Genetics Service Unit, Hong Kong Children’s Hospital, Hospital Authority, Hong Kong, China, lukhm@ha.org.hk

Shirley Sze-Wing Cheng, MD, Clinical Genetics Service Unit, Hong Kong Children’s Hospital, Hospital Authority, Hong Kong, China, shirley.cheng@ha.org.hk