Rapp Hodgkin syndrome


Rapp-Hodgkin syndrome (RHS) is one of the ectodermal dysplasias, disorders that affect the outer layer of a developing embryo. This layer, called the ectoderm, develops into many parts of a baby's body, including the eyes, skin, nails, and hair. In ectodermal dysplasias, these parts may not develop normally.
Typical features of RHS include decreased ability to sweat (hypohidrosis), incomplete closure of the roof of the mouth (cleft palate), abnormal groove in the upper lip (cleft lip), dental problems, hair defects, and poorly developed nails. Symptoms may be present at birth or may appear later in infancy.
RHS is believed to be an inherited genetic disorder. It is extremely rare, with only about 40 cases reported in scientific journals. The exact incidence is currently unknown, but is estimated at 7 in 10,000 births worldwide. RHS affects males and females alike.

Related Terms

Ankyloblepharon, autosomal dominant, cleft lip, ectodermal dysplasia anhidrotic, ectodermal dysplasia Rapp-Hodgkin type, EEC syndrome, OFC8 included, orofacial cleft 8 included, Rapp-Hodgkin (hypohidrotic) ectodermal dysplasia syndrome, RHS, TP63 mutation.