Radial aplasia

Radial aplasia
Synonyms	Radial dysplasia, Radial longitudinal deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Absence or underdevelopment of the radius, thumb abnormalities
Complications	Functional impairment, cosmetic concerns
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, environmental factors
Risks	Family history, teratogens
Diagnosis	Physical examination, X-ray, genetic testing
Differential diagnosis	Ulnar dysplasia, Amniotic band syndrome, VACTERL association
Prevention	N/A
Treatment	Surgical intervention, physical therapy
Medication	N/A
Prognosis	Varies depending on severity and treatment
Frequency	Rare
Deaths	N/A

Radial aplasia (also known as radial club hand) is a rare congenital condition characterized by the underdevelopment or absence of the radius bone in the forearm. This condition can occur in one or both arms and can vary in severity.

Causes

The exact cause of radial aplasia is unknown, but it is believed to be due to a disruption in the normal development of the arm during the early stages of pregnancy. Some cases have been associated with certain genetic conditions, such as Fanconi anemia and Holt-Oram syndrome, but in many cases, the cause is unknown.

Symptoms

The main symptom of radial aplasia is the underdevelopment or absence of the radius bone. This can result in a variety of physical abnormalities, including a shortened forearm, a hand that is bent towards the thumb side of the arm (radial deviation), and underdeveloped or absent thumbs. Other symptoms can include limited mobility in the affected arm and hand, and in severe cases, other skeletal abnormalities may be present.

Diagnosis

Radial aplasia is usually diagnosed at birth based on the physical appearance of the arm and hand. Imaging tests, such as X-rays, can confirm the diagnosis and determine the extent of the condition. Genetic testing may also be performed to identify any associated genetic conditions.

Treatment

Treatment for radial aplasia depends on the severity of the condition and the specific symptoms present. Treatment options can include physical therapy, splinting or casting, and in some cases, surgery. The goal of treatment is to improve function and appearance of the arm and hand.

Prognosis

The prognosis for individuals with radial aplasia varies depending on the severity of the condition and the presence of any associated conditions. With appropriate treatment, many individuals with radial aplasia can lead normal, healthy lives.

See also

• Congenital anomalies of the upper limb
• Congenital anomalies of the lower limb

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