Cat cry syndrome, also known as 5p minus syndrome or cri-du-chat, is a condition that results when some part of chromosome five is absent. This syndrome affects the physical features of people born with it, usually giving them low-set ears and wide-set eyes. Cat cry syndrome is also linked to delayed development, low birth weight, and low intelligence. While most cases of this condition are not genetic, the inheritance of cat cry syndrome is possible. The condition is so-called because affected infants have a cry similar to that of a house cat's.
Other common signs of the syndrome include excessive drooling, other distinct and unusual facial features, and severe speech delay. Dislocated hips, cleft lip, and rare kidney conditions are less common symptoms of cat cry syndrome. Due to the larynx and nervous system being affected, the cry of the infant or child sounds very similar to a meowing cat. Some grow out of the characteristic high-pitched cry, though most keep the cry in adulthood. The unusual facial features and small head may become less distinct as the child reaches adolescence and is normally not noticeable by a layperson.
This chromosome deletion syndrome is one of the most common that affects humans. Most often, it happens randomly when the egg or sperm is forming. Occasionally, cat cry syndrome is inherited from one parent who also possesses some type of chromosome syndrome. Girls are born with the condition slightly more often than boys, and any ethnicity can be affected. Even so, the condition is not common, though genetic testing can be carried out if a future parent is concerned about the possibility.
There is no cure or specific treatment for cat cry syndrome. The varying symptoms, such as mental retardation or speech problems, can be addressed. Many affected individuals may never be capable of fully functioning in society or caring for themselves. Some, however, are able to grasp their primary language well enough to verbally communicate. The severity of the cat cry syndrome heavily depends on how much and what part of chromosome five is missing.
Even though cat cry syndrome is very uncommon, numerous groups and charities have been founded around the world in support of those affected. Some organizations keep a database of members to regularly keep them informed of meetings and breakthroughs concerning the syndrome. The charities usually fund further research or support for families affected by the syndrome.
