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Curly hair-ankyloblepharon-nail dysplasia

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Related terms
Background
Signs and symptoms
Diagnosis
Complications
Treatment
Integrative therapies
Prevention
Author information
Bibliography
Causes
Risk factors
Types of the disease

Related Terms
  • Alveolar synechia, akyloblepharon, anhidrotic ectodermal dysplasia, autosomal recessive disorders, Baughman syndrome, CHANDS, consanguineous, curly hair, ectodermal dysplasia, frenulum abnormality, nail dysplasia.

Background
  • 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.

Signs and symptoms
  • General: Symptoms of curly hair-ankyloblepharon-nail dysplasia (CHANDS) are related to the abnormal development of the ectoderm, or the outer layer of the skin.
  • Eyes: Eye symptoms associated with CHANDS include ankyloblepharon, which is the incomplete separation of the upper and lower eyelids. The lids are attached or fused by very small pieces of skin.
  • Hair: The hair of individuals with CHANDS tends to be very curly and woolen in texture.
  • Mouth: Patients with CHANDS may have several symptoms associated with the mouth. These include alveolar synechia, or attachment of parts of the upper and lower jaw, missing teeth, and small pits in the lips.
  • Nails: Additional symptoms of CHANDS include hypoplastic, or underdeveloped, nails on the fingers and toes.

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.

Complications
  • Complications of curly hair-ankyloblepharon-nail dysplasia (CHANDS) are generally related to the fusing of the eyelids and jaw.

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.

Integrative therapies
  • Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of curly hair-ankyloblepharon-nail dysplasia (CHANDS).

Prevention
  • Because curly hair-ankyloblepharon-nail dysplasia (CHANDS) is an inherited condition, there is currently no known way to prevent the disease.

Author information
  • This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography
  1. Baughman FA Jr. CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. Birth Defects Orig Artic Ser. 1971;7(8):100-2.
  2. Genetics Home Reference. . Accessed April 3, 2008.
  3. Ectodermal Dysplasia Society. . Accessed March 17, 2008.
  4. Natural Standard: The Authority on Integrative Medicine. . Copyright © 2008. Accessed March 17, 2008.
  5. Ohishi M, Kai S, Ozeki S, et al. Alveolar synechia, ankyloblepharon, and ectodermal disorders: an autosomal recessive disorder? Am J Med Genet. 1991;38:13-15.
  6. Toriello HV. Alveolar synechia-ankyloblepharon-ectodermal defects likely CHANDES. Am J Med Genet. 1994;49:348.
  7. Toriello HV, Lindstrom JA, Waterman DF, et al. Re-evaluation of CHANDS. J Med Genet. 1979;16:316-317.

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.

Risk factors
  • The only known risk factor for curly hair-ankyloblepharon-nail dysplasia (CHANDS) is a family history of the disease. Although the exact genetic mutation or defect that causes CHANDS has not been identified, researchers believe it is an autosomal recessive disorder. This is partially because it tends to occur more often in closely related populations.
  • 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 inheriting two defective genes, a 50% chance of inheriting only one mutation, 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.

Types of the disease
  • Curly hair-ankyloblepharon-nail dysplasia (CHANDS) is a form of ectodermal dysplasia that affects the outer layer of a developing baby called the ectoderm. Very few cases of CHANDS have been described, and it is not yet known if there are other types of this disease.

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The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.

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