Kleiner–Holmes syndrome

Kleiner–Holmes Syndrome is a rare genetic disorder characterized by the underdevelopment (hypoplasia) of the thumbs and the big toes, along with other skeletal abnormalities. This condition falls under the broader category of limb malformation syndromes, which affect the development of limbs in the womb. The syndrome is named after the researchers who first described it.

Symptoms and Characteristics

The primary features of Kleiner–Holmes Syndrome include:

• Hypoplasia of the thumbs and big toes, which may manifest as significantly smaller than normal or underdeveloped digits.
• Possible fusion of the bones in the wrists and ankles (carpal and tarsal bones), leading to reduced mobility or deformity.
• Additional skeletal abnormalities may be present, such as short stature, facial asymmetries, and other limb malformations.

Causes

Kleiner–Holmes Syndrome is believed to be genetic in origin, though the specific genes involved have not been conclusively identified. It is thought to follow an autosomal recessive inheritance pattern, meaning that a child must inherit one copy of the mutated gene from each parent to be affected.

Diagnosis

Diagnosis of Kleiner–Holmes Syndrome is primarily based on physical examination and the presence of characteristic symptoms. Imaging studies, such as X-rays, can help in assessing the extent of bone abnormalities. Genetic testing may be useful in confirming the diagnosis, especially in cases where the genetic cause is known.

Treatment

There is no cure for Kleiner–Holmes Syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:

• Surgical interventions to correct skeletal deformities, improve mobility, or address other physical abnormalities.
• Physical therapy to enhance movement and function.
• Occupational therapy to assist with daily activities and promote independence.

Prognosis

The prognosis for individuals with Kleiner–Holmes Syndrome varies depending on the severity of the symptoms and the presence of other health issues. With appropriate medical and supportive care, many affected individuals can lead active, fulfilling lives.

See Also

• Genetic disorder
• Limb malformation
• Autosomal recessive inheritance