Rosenthal–Kloepfer syndrome

Rosenthal–Kloepfer syndrome
Synonyms	Cranioectodermal dysplasia
Pronounce	N/A
Specialty	N/A
Symptoms	Craniosynostosis, ectodermal dysplasia, short stature, skeletal abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Other craniosynostosis syndromes
Prevention	N/A
Treatment	Symptomatic treatment, surgery
Medication	N/A
Prognosis	N/A
Frequency	Rare disease
Deaths	N/A

Rosenthal–Kloepfer syndrome is a rare genetic disorder characterized by albinism, deafness, and mental retardation. The syndrome was first described by Rosenthal and Kloepfer in 1960.

Symptoms and Signs

The main symptoms of Rosenthal–Kloepfer syndrome include:

• Albinism: This is a condition characterized by a lack of pigment in the skin, hair, and eyes. People with albinism often have vision problems and are at increased risk of skin cancer.
• Deafness: This is a loss of hearing that can be partial or total. It can be present at birth or develop later in life.
• Mental retardation: This is a term used to describe below-average intelligence and set of life skills. It is usually present from birth.

Causes

Rosenthal–Kloepfer syndrome is a genetic disorder, which means it is caused by abnormalities in the genes. It is thought to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the faulty gene for a child to be affected.

Diagnosis

The diagnosis of Rosenthal–Kloepfer syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for Rosenthal–Kloepfer syndrome. Treatment is aimed at managing the symptoms and improving the quality of life. This may include:

• Skin care to protect against sun damage
• Hearing aids or cochlear implants to improve hearing
• Special education and therapy to help with mental retardation

Prognosis

The prognosis for individuals with Rosenthal–Kloepfer syndrome varies. Some people may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See also

• List of genetic disorders
• List of syndromes