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Curly hair-ankyloblepharon-nail dysplasia
Curly hair-ankyloblepharon-nail dysplasia (CHANDS) is a form of ectodermal dysplasia, which affects the outer layer of a developing baby called the ectoderm. Because the ectodermal layer develops into many parts of a baby's body, including the eyes, skin, nails, and hair, these parts may not develop normally.Fewer than five cases of CHANDS have been recorded. Baughman described the first case in 1971. He initially thought that CHANDS was an autosomal dominant disorder. In a dominant disorder, a person has to inherit only one copy of a defective gene to have the disorder. This means that if one parent has the disorder, there is a 50% chance that his or her child will have the disorder. If both parents have the disorder, there is a 75% chance that their child will have the disorder.
Valdmanis later determined that CHANDS is an autosomal recessive condition with pseudodominance, meaning it appears to follow a dominant inheritance pattern, when in fact, it is recessive. In recessive disorders, an individual has to inherit two copies of the defective gene (one from each parent) 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 developing 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.
The exact genetic mutation, or defect, that causes CHANDS is not currently known. Although CHANDS is extremely rare, incidence of the disease is higher among people whose parents are related to one another (also known as consanguineous, or sharing a blood line).
Symptoms of CHANDS include underdeveloped fingernails and toenails, incomplete separation of the eyelids, and wooly, curly scalp hair. Other symptoms have included problems with the lips, mouth, teeth, and gums.
Related Terms
Alveolar synechia, akyloblepharon, anhidrotic ectodermal dysplasia, autosomal recessive disorders, Baughman syndrome, CHANDS, consanguineous, curly hair, ectodermal dysplasia, frenulum abnormality, nail dysplasia.
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