GAPO syndrome

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Obesity, Sleep & Internal medicine
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GAPO syndrome
Synonyms	Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy
Pronounce	N/A
Specialty	N/A
Symptoms	Growth retardation, alopecia, pseudoanodontia, optic atrophy
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the ANAPC1 gene
Risks	Family history of the condition
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Other syndromes with similar features
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

GLH alopecia

GAPO syndrome is a rare genetic disorder characterized by a combination of growth retardation, alopecia, pseudoanodontia, and optic atrophy. The name GAPO is an acronym derived from these primary features. The syndrome is inherited in an autosomal recessive manner.

Signs and Symptoms

Individuals with GAPO syndrome typically present with the following features:

• Growth retardation: Affected individuals exhibit significantly reduced growth rates, leading to short stature.
• Alopecia: There is a notable absence of hair, including scalp hair, eyebrows, and eyelashes.
• Pseudoanodontia: This refers to the delayed eruption or absence of teeth.
• Optic atrophy: Progressive degeneration of the optic nerve leading to vision impairment.

Additional features may include hearing loss, skin abnormalities, and cardiovascular anomalies.

Genetics

GAPO syndrome is caused by mutations in the ANKRD11 gene, which plays a role in chromatin remodeling and gene expression. The disorder follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of GAPO syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the ANKRD11 gene.

Management

There is no cure for GAPO syndrome, and treatment is symptomatic and supportive. Management may involve:

• Regular monitoring of growth and development
• Vision and hearing assessments
• Dental care to address pseudoanodontia
• Supportive therapies for any additional complications

Epidemiology

GAPO syndrome is extremely rare, with fewer than 50 cases reported in the medical literature. It affects both males and females equally.

See Also

• Genetic disorder
• Alopecia
• Optic atrophy
• Growth retardation
• Pseudoanodontia

External Links

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