Cri du chat syndrome 129

or missing fingers), poor muscle tone, and swallowing or breathing problems. Although a child with Moebius syndrome may crawl or walk later than other children, he or she eventually catches up.

Moebius syndrome does not get worse over time. Hand, foot, or jaw deformities, and crossed eyes, can be surgically treated. It is sometimes possible through surgery to counteract the facial paralysis by transferring nerves and muscles to the corners of the mouth.

A special feeding device or feeding tube may help the child get nourishment. Physical therapy can ease muscle problems, and occupational therapy can help the child learn how to wash and dress (especially for those with hand deformities). Speech therapy may help as well. A tracheotomy can ease severe breathing problems.

Miller Syndrome

This very rare condition is characterized by downward slanting eyelids, cleft palate, recessed lower jaw, small cup-shaped ears, and a broad nasal ridge. There are also shortened bowed forearms, incompletely developed bones in the arms, missing or webbed fingers and toes, and abnormal growth of the bones in the lower legs. Occasional problems include heart defects, lung disease, extra nipples, stomach or kidney reflux, undescended testicles, or dislocated hips.

The child should be treated by a qualified craniofacial medical team at a craniofacial center. Several surgeries may be necessary, depending on the severity of the child's condition. Some treatments may include a tracheostomy to help with breathing, a gastrostomy tube to assure proper nutrition, and craniofacial surgery to the jaw, ears, and eyes.

Nager Syndrome

This condition features downward slanting eyelids, absent or underdeveloped cheekbones, a severely underdeveloped lower jaw, malformed outer and middle ears, cleft palate, absence of lower eyelashes, scalp hair growing onto the cheeks, and underdeveloped or missing thumbs.

Several surgeries may be necessary, depending on the severity of the child's condition, including tracheostomy to help with breathing, a gastros-tomy tube to assure proper nutrition, and cranio-facial surgery to the jaw and ears.

Pierre Robin Syndrome

In this condition, the lower jaw is abnormally small and the tongue falls backward toward the throat; cleft lip and a cleft palate are also possible.

Infants must be kept face down, which allows gravity to pull the tongue forward and keep the airway open. These problems abate over the first few years as the lower jaw grows and assumes a more normal size. In moderate cases, the patient needs a tube placed through the nose and into the airway to avoid airway blockage. In severe cases, surgery is indicated for recurrent upper airway obstruction. Tracheostomy is sometimes required. Feeding must be done very carefully to avoid choking and inhaling liquids into the airways.

Treacher-Collins Syndrome

In this condition, the cheekbones and jawbones are underdeveloped, with notches in or stretching of the lower eyelids. The ears are frequently abnormal, part of the outer ear is usually missing, and hearing problems are common.

Treatment consists of testing for and treating any hearing loss so as to enable a child to perform at normal level in school. Plastic surgery can improve the receding chin and other physical defects.

crib death See sudden infant death syndrome.

cri du chat syndrome Also known as "cry of the cat syndrome" or "5p-syndrome," this is a rare congenital condition characterized by a kitten-like mewing cry caused by a small larynx. The cry usually disappears after the first few weeks of life, but the syndrome is usually linked with mental retardation, heart problems, unusual facial characteristics (such as widely spaced eyes), small head, and short stature.


The condition is the result of a chromosome abnormality in which a portion of chromosome 5 is missing in each of the child's cells.

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