Conradi Hunermann syndrome

Conradi-H nermann Syndrome

Conradi-H nermann Syndrome, also known as X-linked dominant chondrodysplasia punctata, is a rare genetic disorder characterized by skeletal abnormalities, skin changes, and cataracts. It is part of a group of disorders known as chondrodysplasia punctata, which are distinguished by the presence of stippled epiphyses (punctate calcifications in the cartilage).

Etiology

Conradi-H nermann Syndrome is caused by mutations in the EBP gene, which encodes the enzyme emopamil-binding protein. This enzyme is involved in the biosynthesis of cholesterol, and mutations lead to an accumulation of abnormal sterols, which are thought to cause the symptoms of the disorder.

Clinical Features

The clinical presentation of Conradi-H nermann Syndrome can vary widely, but common features include:

• Skeletal Abnormalities: These may include asymmetric limb shortening, scoliosis, and stippled epiphyses visible on X-rays.
• Skin Changes: Ichthyosiform erythroderma, a condition where the skin is red and scaly, is often present at birth.
• Cataracts: Congenital cataracts are a common feature and can lead to vision problems if not treated.
• Other Features: Additional features may include short stature, hearing loss, and intellectual disability.

Diagnosis

Diagnosis of Conradi-H nermann Syndrome is based on clinical findings, radiographic evidence of chondrodysplasia punctata, and genetic testing to identify mutations in the EBP gene. Genetic counseling is recommended for affected families.

Management

There is no cure for Conradi-H nermann Syndrome, and treatment is symptomatic and supportive. Management may include:

• Orthopedic Interventions: To address skeletal abnormalities and improve mobility.
• Dermatological Care: To manage skin symptoms.
• Ophthalmological Care: Early treatment of cataracts to prevent vision loss.
• Hearing Aids: For those with hearing impairment.

Prognosis

The prognosis for individuals with Conradi-H nermann Syndrome varies depending on the severity of symptoms. With appropriate management, many individuals can lead fulfilling lives.

Epidemiology

Conradi-H nermann Syndrome is a rare condition, with an estimated prevalence of 1 in 100,000 to 1 in 200,000 live births. It predominantly affects females due to its X-linked dominant inheritance pattern.

History

The syndrome is named after the German pediatrician Hans Conradi and the German radiologist Carl H nermann, who first described the condition in the early 20th century.

See Also

• Chondrodysplasia punctata
• X-linked dominant disorders
• Genetic disorders

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NIH genetic and rare disease info

• NIH info on Conradi Hunermann syndrome

Conradi Hunermann syndrome is a rare disease.