Hay-Wells syndrome (HWS)

Referenced from U.S. National Library of Medicine (1)

Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC), also known as Hay-Wells syndrome (HWS) is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

Infants born with AEC suffer from ankyloblepharon filiforme adnatum, in which strands of tissue partially or fully fuse the upper and lower eyelids. Furthermore, individuals diagnosed with AEC commonly experience eroded or missing patches of skin, most often on or around the scalp, but also around the neck, hands and feet. Such erosions can become infected, cause scarring, or lead to hair loss. Furthermore, ankyloblepharon filiforme adnatum — in which strands of tissue partially or fully fuse the upper and lower eyelids — is common amongst infants born with AEC.

Cleft lip, cleft palate or both are common; either of which can cause great difficulty in feeding for infants, thus slowing growth and development. Syndactyly (webbed fingers or toes) is common, while ectrodactyly (congenital cleft hand) and camptodactyly (permanently bent fingers or toes) are less common.

Hearing loss affects upwards of 90 per cent of individuals with AEC, and many such individuals display common facial features, such as below average sized jaws which cannot open wide, and a narrow philtrum (space between the nose and upper lip). Digestive problems, absent or blocked tear duct openings, and chronic ear and sinus infections are also common symptoms of AEC.

AEC also boasts many common ectodermal dysplasia symptoms, such as:

  • changes in skin pigmentation;
  • sparse, brittle or missing hair;
  • absent or malformed finger- and toenails;
  • malformed or missing teeth;
  • sensitivity to heat; and/or
  • reduced ability to sweat.

Despite the many difficulties associated with AEC, most affected individuals live a normal lifespan. AEC is considered part of the same disease spectrum as Rapp-Hodgkin syndrome (RHS), ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome and limb-mammary syndrome (LMS).

Inherited in an autosomal dominant pattern, this group of diseases is caused by mutations in the TP63 gene, which interferes with the ability of the p63 protein to turn on and off many genes during early development. The p63 protein is critical in the development of ectodermal structures such as skin, hair, teeth and nails, as well as in the development of limbs, facial features, tissues and the urinary system.

(1)Genetics Home Reference, Genetic Conditions: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [Internet]. U.S. National Library of Medicine; [reviewed June 2011; published August 8, 2011]. [about 3 screens]. Available from: http://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome