Minor Characteristics of WS
Congenital Leucoderma
People with WS sometimes have "congenital leucoderma," or absence of pigment in their skin. Because these white or light patches of skin have no pigment, they sunburn easily and are at risk for developing skin cancer. Leucoderma is easily noticeable on people with dark skin, and can cause cosmetic or social problems for such people. Here is a picture of leucoderma on a hand.
Multiple Nevi
A "nevus" is a mole. Moles are collections of pigment cells. Moles are often scattered across the skin of people with WS, usually in the head and neck areas, as in the woman in this photograph. Nevi should be watched to be certain they do not become malignant, and should be surgically removed if necessary.
Eyebrow Anomalies
Eyebrow anomalies are common in people with WS. Eyebrows may be depigmented and may grow across the bridge of the nose and meet at midline. This condition is called "synophrys," or unibrow. Bushy or flared eyebrows can create an unusual facial appearance. Flared eyebrows are shown on the boy in the photo to the left.
Hypoplasia 
"Hypoplasia" means underdeveloped. People with WS may have hypoplastic muscles of the shoulder and neck, as well as underdeveloped midface bones. Hypoplastic nasal alae (the sides of the tip of the nose) are also common in people with WS.
This woman has hypoplastic nasal alae and hypoplastic shoulder muscles, as does her son. She also has heterochromia iridis and multiple nevi, both visible in this photograph.
Syndactyly
People with fused fingers and toes have a condition called "syndactyly." Syndactyly, and polydactyly (too many fingers or toes) are sometimes found in people with WS. Fused toes are pictured to the left.
Receding Chin
"Retrognathic mandible" is another name for a small lower jaw, or receding chin. People with WS may have retrognathia as well as ears that are tilted and slant toward the back of the head. This woman's jaw is retrognathic (pictured right). You can also see nevi near her nose and on her neck.
Cleft Lip and Cleft Palate
Cleft palate" happens when the roof of the mouth does not form properly in utero. A palate that does not fuse is called a cleft palate. A lip that does not fuse is called a cleft lip. Cleft lip and/or cleft palate are sometimes present in newborns who also have WS. These conditions must be surgically corrected so the person can learn to eat and speak normally.
This woman was born with cleft lip and cleft palate and now has a normal looking face and excellent speaking skills.
For more information, see the American Cleft Palate - Craniofacial Association (ACPCA) website.
Spina Bifida
"Spina bifida," or open spine, sometimes occurs in infants who have WS. Spina bifida occurs when the bones of the spine do not fuse during fetal development. The cerebrospinal fluid (CSF) and contents of the spinal cord may be pushed through the opening to the outside of the body. This can occur anywhere along the length of the spinal column, from the base of the neck, to the base of the spine. Spina bifida must be corrected shortly after birth to prevent infection of the spinal cord and nervous system.
Communication Disorders
People who have WS and hearing loss, cleft palate, or cleft lip may have difficulty learning to speak or use language properly. Early intervention offers the best chance for such children to learn to communicate effectively. People who have WS are usually not cognitively impaired or mentally retarded. Their speech and language problems, if any, result from being unable to hear normal speech and language, and rarely, from unrepaired cleft lips and palates. Some persons who have WS and are deaf, prefer to be part of the Deaf community and learn to communicate through sign language. Other persons who are deaf choose to use hearing aids or cochlear implants to enable them to learn language and oral speech.
Camptodactyly
"Camptodactyly" means fingers or toes that are curved upward and permanently flexed, as are the fingers of this individual who has WS (right). Camptodactyly is sometimes treated with physical therapy and corrective surgery.
Rare Characteristics
Very rarely, individuals with WS may be born without eyes, a condition called "anophthalmia." This is more likely to happen if the parents of the child were close blood relatives (consanguineous mating). Some children born to consanguineous matings have also been born with WS and limb defects. This is a very rare combination of physical features. Mental retardation has been observed in such children, but it is uncertain if the cognitive problems result from WS or from some other cause.
:: Site Map :: Home :: About Us :: Terms of Use ::
2 Bachelor Hall | Oxford, OH | 45056 | 513.529.2500
waardenburgsyndromesupport@muohio.edu