Acheiria

Congenital absence of one or both hands

Acheiria
Synonyms	Acheiria
Pronounce	N/A
Specialty	N/A
Symptoms	Absence of one or both hands
Complications
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, environmental factors
Risks
Diagnosis	Clinical examination, imaging
Differential diagnosis	N/A
Prevention	N/A
Treatment	Prosthetics, occupational therapy
Medication	N/A
Prognosis	Varies
Frequency	Rare
Deaths	N/A

Acheiria is a rare congenital condition characterized by the absence of one or both hands. It is a type of limb reduction defect that occurs during fetal development. The condition can be isolated or associated with other congenital anomalies.

Etiology

Acheiria can result from genetic mutations or environmental factors that affect limb development during embryogenesis. It may occur as part of a syndrome or as an isolated defect. Genetic counseling is often recommended for affected families to understand the risk of recurrence in future pregnancies.

Pathophysiology

The development of limbs in the embryo is a complex process involving multiple genes and signaling pathways. Disruptions in these pathways can lead to limb reduction defects such as acheiria. The exact mechanisms can vary depending on the underlying cause, whether genetic or environmental.

Diagnosis

Diagnosis of acheiria is typically made through clinical examination at birth. Prenatal imaging, such as ultrasound, can sometimes detect limb abnormalities before birth. Further genetic testing may be conducted to identify any associated syndromes or genetic mutations.

Management

Management of acheiria focuses on improving the quality of life for affected individuals. This may include:

• Prosthetics: Custom prosthetic devices can help individuals perform daily activities.
• Occupational therapy: Therapy can assist in developing skills and strategies to adapt to the absence of hands.
• Psychological support: Counseling and support groups can help individuals and families cope with the emotional aspects of the condition.

Prognosis

The prognosis for individuals with acheiria varies depending on the presence of other anomalies and the effectiveness of interventions. With appropriate support and adaptive devices, many individuals lead fulfilling lives.

Epidemiology

Acheiria is a rare condition, and its exact prevalence is not well-documented. It is considered a part of the spectrum of limb reduction defects, which occur in approximately 1 in 1,000 to 2,000 live births.

Also see

• Limb reduction defect
• Amelia (birth defect)
• Phocomelia
• Congenital disorder