Ackerman syndrome

A rare genetic disorder characterized by a combination of features including glaucoma, dental anomalies, and facial dysmorphism.

Overview

Diagram of autosomal recessive inheritance.

Ackerman syndrome is a rare genetic disorder that is primarily characterized by a combination of glaucoma, dental anomalies, and facial dysmorphism. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.

Clinical Features

Ackerman syndrome presents with a variety of clinical features, which can vary in severity among affected individuals. The primary features include:

Glaucoma

Glaucoma is a condition that damages the optic nerve and can lead to vision loss. In Ackerman syndrome, glaucoma is often present at birth or develops in early childhood. It is a significant concern as it can lead to blindness if not managed appropriately.

Dental Anomalies

Individuals with Ackerman syndrome often exhibit dental anomalies such as:

• Hypodontia - missing teeth.
• Microdontia - abnormally small teeth.
• Enamel hypoplasia - underdeveloped enamel leading to increased risk of cavities.

Facial Dysmorphism

Facial dysmorphism in Ackerman syndrome may include:

• Hypertelorism - increased distance between the eyes.
• Micrognathia - a small jaw.
• Cleft lip and palate - a split in the upper lip and/or roof of the mouth.

Genetics

Ackerman syndrome is caused by mutations in specific genes that are inherited in an autosomal recessive manner. This means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves.

Diagnosis

Diagnosis of Ackerman syndrome is based on clinical evaluation, family history, and genetic testing. Ophthalmologic examination is crucial for detecting glaucoma, while dental evaluation can identify characteristic dental anomalies.

Management

Management of Ackerman syndrome is multidisciplinary, involving:

• Ophthalmology for the treatment and monitoring of glaucoma.
• Dentistry for addressing dental anomalies and maintaining oral health.
• Genetic counseling for affected families to understand the inheritance pattern and risks for future pregnancies.

Related Pages

• Genetic disorder
• Autosomal recessive
• Glaucoma
• Dental anomaly