(Hay-Wells syndrome, ankyloblepharon-ectodermal anomalies-cleft lip palate)
Very rare form of ectodermal dysplasia. Acronym of: Ankyloblepharon Ectodermal Cleft lip/palate defects. De novo mutation or autosomal dominant transmission of a mutation of the TP63 gene (3q27) coding for tumor protein p63 or P73. This phenotype is close to the Rapp-Hodgkin syndrome in which there is no ankyloblepharon.
Association of:
- oval facies with a broad nasal root
- eye: filiform adnatum ankyloblepharon (edges of the eyelids are connected by abnormal tissue strips; sometimes: full or partial fusion of the eyelids), rare or absent eyelashes, sometimes absence of lacrimal duct; sometimes photophobia and conjunctivitis
- atresia or stenosis of the auditory canals, sometimes leading to a hearing loss
- dry skin, often hyperpigmented with scratching lesions; moderate hypohidrosis
- scattered, fine and rare hair; abrasions and frequent infections, often resulting in alopecia
- defects of the teeth: hypodontia, enamel defects
- nail abnormalities: dystrophy or agenesis
- cleft lip or lip/palate; sometimes intraoral adhesions resulting in an almost complete fusion of upper and lower jaw
- syndactyly or camptodactyly
- sometimes mild immunodeficiency with an increased risk of pulmonary infections.
Sometimes: cardiac malformation (VSD, patent ductus arteriosus), micropenis and hypospadias.
Cases of Wilms tumor have been described.
Anesthetic implications:
prophylactic antibiotics, eye protection, humidification of the inspired gases, temperature monitoring (hypohidrosis is moderate but can cause hyperthermia under GA); difficult intubation in case of alveolar synechiae.
References:
- Bertola DR, Kim CA, Sugayama SM, et al.
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.
Pediatr Dermatol. 2000;17:218-21.
- Cabiling DS, Yan AC, McDonald-McGinn DM, et al.
Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.
Cleft Palate Craniofac J. 2007;44:335-9.
- Bonjardim Lima L, Barbosa de Paulo LF, Jordoa Silva C et al.
Congenital oral synechia and ankyloblepharon filiforme adnatum : case report and literature review.
Int J Pediatr Otorhinolaryngol 2016 ; 90 : 196-9.
- Marialva J, Lopes L, Moura F, Cardoso H, Cruz L.
Peri-operative management of a patient with an ectodermal dysplasia (Rapp–Hodgkin) syndrome.
Anaesthesia Reports 2023, 11, e12210
Updated February 2023