Karsch–Neugebauer syndrome

Karsch–Neugebauer syndrome is a rare genetic disorder characterized by the presence of ectrodactyly, ectodermal dysplasia, and cleft lip/palate. The syndrome was first described by Friedrich Karsch and Hans Neugebauer in the late 20th century.

Etiology

The exact cause of Karsch–Neugebauer syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome.

Clinical Features

The primary features of Karsch–Neugebauer syndrome include:

• Ectrodactyly: This is a condition where there is a deficiency or absence of one or more central digits of the hand or foot.

• Ectodermal dysplasia: This refers to a group of syndromes deriving from abnormalities of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands.

• Cleft lip/palate: This is a split or opening in the upper lip, the roof of the mouth (palate) or both.

Diagnosis

Diagnosis of Karsch–Neugebauer syndrome is primarily based on clinical examination and the presence of the characteristic physical features. Genetic testing may also be performed to confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for Karsch–Neugebauer syndrome is symptomatic and supportive. This may include surgical correction of the cleft lip and/or palate, physical therapy for the hands and feet, and dental care for the teeth abnormalities. Genetic counseling may also be beneficial for affected individuals and their families.

Prognosis

The prognosis for individuals with Karsch–Neugebauer syndrome varies depending on the severity of the symptoms. With appropriate treatment and management, many individuals with this syndrome can lead normal lives.

See Also

• Ectrodactyly
• Ectodermal dysplasia
• Cleft lip and palate
• Genetic disorder
• Autosomal recessive inheritance

NIH genetic and rare disease info

• NIH info on Karsch–Neugebauer syndrome

Karsch–Neugebauer syndrome is a rare disease.

Karsch–Neugebauer syndrome Resources
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