Curly hair ankyloblepharon nail dysplasia syndrome
Overview
Curly hair - ankyloblepharon - nail dysplasia syndrome (medical condition): A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails.
Symptoms
Some of the symptoms of Curly hair - ankyloblepharon - nail dysplasia syndrome incude: * Curly hair * Fused eyelids * Thin nails * Ataxia * Thick nails
Causes
Inheritance: Although the exact genetic mutation or defect that causes curly hair-ankyloblepharon-nail dysplasia (CHANDS) has not been identified, it is an autosomal recessive condition with pseudodominance, meaning it appears to follow a dominant inheritance pattern, when in fact, it is recessive. This may occur when an autosomal recessive condition appears in individuals in two or more generations of a family, thereby appearing to follow a dominant inheritance pattern. Common explanations include a high frequency of carriers or birth of a child affected by the disorder to an affected individual and a genetically-related (consanguineous) partner. In recessive disorders, an individual has to inherit two copies (one from each parent) of the defective gene in order to have the disorder. People who inherit a defective gene from only one parent are called "carriers" and they may pass the mutation to their children. If one parent is a carrier of the defective gene and the other parent is not, each of their children will have a 50% chance of inheriting one defective gene and also of being a carrier. If both parents are carriers, each child has a 25% chance of having the disorder, a 50% chance of being a carrier, and a 25% chance of inheriting neither of the mutations. If both parents are carriers, therefore, about one out of every four children will have the disorder. Individuals may be more likely to develop CHANDS if their parents are related (consanguineous), such as in the case of first cousins. Random occurrence: It is unknown whether CHANDS can occur as the result of a spontaneous genetic mutation with no family history of the disease.
Prevention
Because curly hair-ankyloblepharon-nail dysplasia (CHANDS) is an inherited condition, there is currently no known way to prevent the disease.
Diagnosis
General: In general, curly hair-ankyloblepharon-nail dysplasia (CHANDS) is diagnosed based on the observation of several external characteristics. These include wooly, curly scalp hair, partial attachment of the upper and lower eyelids, underdeveloped nails on the fingers and toes, and problems with the lips, mouth, teeth, and gums. Genetic testing: Genetic testing identifies changes in chromosomes, proteins, or genes. Usually, genetic testing is used to find changes associated with inherited disorders. Genetic testing is available for some types of ectodermal dysplasias, but not specifically for CHANDS.
Treatment
There is currently no known cure for curly hair-ankyloblepharon-nail dysplasia (CHANDS). Treatment is instead focused on the management of symptoms. Surgery may be done to correct the fusing of the eyelids and jaw.