Hay-Wells syndrome (AEC): a case report.

Area of Science:

• Genetics and Developmental Biology
• Dermatology
• Pediatrics

Background:

• AEC syndrome (Ankyloblepharon, Ectodermal dysplasia, Cleft lip/palate) is a rare autosomal-dominant genetic disorder.
• First described in 1976, it presents as a complex polymalformative syndrome with variable clinical presentation and penetrance.

Observation:

• A case study detailing a patient with AEC syndrome, including descriptive explanations and clinical images.
• The neonatal report documented a dysplastic phenotype with specific features: micrognathia, palatal hypoplasia and cleft, hypoplastic nails, and ankyloblepharon filiforme.
• Additional findings included mammary hypoplasia, hypoplastic external genitalia with clitoral hypertrophy, and ectodermal abnormalities like scaly exanthema and ear malformations.

Findings:

• The reported case exhibited cardinal signs of AEC syndrome, including ankyloblepharon, ectodermal dysplasia, and orofacial clefting.
• Clinical variability is a recognized hallmark of AEC syndrome, with the presented case demonstrating a wide range of associated malformations.
• Despite numerous congenital anomalies, the patient maintained good lung ventilation, normal heart rhythm, and a normal neurological examination.

Implications:

• This case contributes to the limited published data on AEC syndrome, underscoring the importance of recognizing its diverse clinical manifestations.
• Accurate diagnosis and understanding of AEC syndrome are crucial for genetic counseling and managing the complex needs of affected individuals.
• Further research into the genetic underpinnings and phenotypic spectrum of AEC syndrome is warranted to improve patient outcomes.