Ablepharon macrostomia syndrome

A rare genetic disorder characterized by malformations of the skin, face, fingers, and genitals

Ablepharon macrostomia syndrome (AMS) is a rare genetic disorder characterized by a range of congenital malformations affecting the skin, face, fingers, and genitals. It is primarily inherited in an autosomal dominant pattern.

Presentation

Individuals with ablepharon macrostomia syndrome typically present with a variety of distinctive physical features. These may include:

• Ablepharon: The absence or severe underdevelopment of the eyelids, leading to exposure of the eyes and potential ocular complications.
• Macrostomia: An unusually wide mouth, which may affect speech and feeding.
• Ear abnormalities: Malformed or absent auricles (external ears).
• Skin abnormalities: Thin, wrinkled, or redundant skin, particularly on the face and scalp.
• Genital abnormalities: In males, this may include cryptorchidism (undescended testes) or hypospadias.
• Digital anomalies: Such as syndactyly (fusion of fingers or toes) or brachydactyly (short fingers or toes).

Genetics

Ablepharon macrostomia syndrome is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific genetic mutations responsible for AMS have not been fully elucidated, but it is believed to involve genes that play a role in embryonic development.

Diagnosis

Diagnosis of ablepharon macrostomia syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other syndromes with overlapping features.

Management

Management of AMS is typically multidisciplinary, involving specialists in ophthalmology, plastic surgery, dermatology, and genetics. Treatment is symptomatic and supportive, focusing on addressing specific malformations and improving quality of life. This may include:

• Surgical correction of eyelid and mouth abnormalities.
• Management of skin conditions.
• Surgical intervention for genital anomalies.
• Supportive therapies for feeding and speech difficulties.

Prognosis

The prognosis for individuals with ablepharon macrostomia syndrome varies depending on the severity of the malformations and the presence of any associated complications. Early intervention and comprehensive management can improve outcomes and quality of life.

Related pages

• Genetic disorder
• Congenital malformation
• Autosomal dominant
• Syndactyly

Gallery

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  Diagram of autosomal dominant inheritance

Ablepharon macrostomia syndrome

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  Autosomal dominant inheritance pattern