Acheiropodia

Acheiropodia
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Congenital absence of hands and feet
Complications	N/A
Onset	Birth
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical examination, Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	N/A
Frequency	Rare disease
Deaths	N/A

Acheiropodia is a rare genetic disorder characterized by the congenital absence of hands and feet. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the LMBR1 gene.

Presentation

Individuals with acheiropodia are born without hands and feet, a condition known as amelia. The absence of these limbs is due to a disruption in the normal development of the limb bud during embryogenesis.

Genetics

Acheiropodia is caused by mutations in the LMBR1 gene, which is located on chromosome 7. This gene is involved in the sonic hedgehog signaling pathway, which plays a crucial role in the development of limbs. The condition 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 acheiropodia is primarily based on clinical examination and the characteristic absence of hands and feet. Genetic testing can confirm the diagnosis by identifying mutations in the LMBR1 gene.

Management

There is no cure for acheiropodia, and management focuses on supportive care to improve the quality of life for affected individuals. This may include the use of prosthetic devices, physical therapy, and occupational therapy to enhance mobility and independence.

Epidemiology

Acheiropodia is an extremely rare condition, with only a few cases reported in the medical literature. It is more commonly observed in certain isolated populations where consanguinity is more prevalent.

See also

• Amelia (birth defect)
• Limb development
• Genetic disorders

External links

• OMIM entry on Acheiropodia
• Rare Diseases Information on Acheiropodia