In 1971, Baughman described an extremely rare new syndrome. The syndrome affects the outer layer (ectoderm) of a fetus, causing the eyes, skin, nails and hair to be underdeveloped or malformed. This hereditary condition is characterized by curly hair and underdeveloped nails with congenital ankyloblepharon (complete or partial fusion of the eyelids). The condition is also known as CHANDS which stands for Curly Hair Ankyloblepharon Nail Dysplasia Syndrome.
- Epidemiology Baughman syndrome
- Causes and heredity CHANDS
- Symptoms: Abnormalities of eyes, skin and nails
- Diagnosis and examinations
- Complications CHANDS
- Therapy
Epidemiology Baughman syndrome
The prevalence of this syndrome may be very low. After all, the medical literature describes fewer than five patients. Although Baughman syndrome is extremely rare, the incidence of the disease is higher in people whose parents are related.
Causes and heredity CHANDS
The exact genetic mutation (alteration) or defect that causes curly hair ankyloblepharon nail dysplasia has not yet been identified. It is an autosomal recessive condition with pseudodominance, meaning it resembles a dominant inheritance pattern, when in fact the condition follows a recessive inheritance. Initially, Baughman thought that the syndrome was inherited in an autosomal dominant manner, but in 1977 Valdmanis et al came to the conclusion that this was incorrect. It is unknown whether CHANDS can occur spontaneously without a family history of the disease. It is also not known whether there are different CHANDS types. Information regarding gender preference is also unknown.
Symptoms: Abnormalities of eyes, skin and nails
Patients’ fingernails and toenails are underdeveloped and sometimes thick (thick toenails). In addition, patients’ upper and lower eyelids are also not completely separated. The eyelids hang together or are joined by very small pieces of skin. A third primary symptom consists of typically woolly, curly scalp hair. Other possible symptoms involve underdeveloped or abnormal body parts: lips (lip pits), mouth, teeth and gums (dental abnormalities). The upper and lower jaws may also be attached to each other. Finally, ataxia is also a possible additional feature of CHANDS.
Diagnosis and examinations
The diagnosis is often based on a clinical examination in which a number of external features stand out. These include woolly, curly scalp hair, crowding of the upper and lower eyelids, underdeveloped nails on the fingers and toes, and problems with the lips, mouth, teeth and gums.
A genetic test identifies changes in the chromosomes, proteins or genes. However, such a study is not possible for Baughman syndrome. However, genetic research into some types of ectodermal dysplasias can be done.
Complications CHANDS
Some patients experience complications of the eyelids and/or jaw. However, no detailed information about complications has been provided in the medical literature.
Therapy
There is no known effective proven treatment for CHANDS. Therefore, treatment is rather symptomatic and supportive. Sometimes surgery is required for eyelid and jaw abnormalities.
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