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Affected infants may also display low birth weight, growth deficiencies, diminished muscle tone (hypotonia), and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and sex.
Distinctive facial features may include an abnormally round or plump (moon) face, a broad nasal bridge, widely spaced eyes (hypertelorism), crossed eyes (strabismus), downwardly slanting eyelid folds (palpebral fissures), vertical skin folds that may cover the eyes’ inner corners (epicanthal folds), low-set ears, and an abnormally small jaw (micrognathia).
In affected male infants, the testes may fail to descend into the scrotum (cryptorchidism) and the urinary opening may be located on the underside of the penis (hypospadias).
There has also been an association with cri du chat and Hirschsprung’s disease.
In one study, only 50% of children with cri du chat syndrome were able to feed themselves with a spoon by 3.5 years of age.
A variety of additional findings may occur in association with cri du chat syndrome.
Prematurely graying of the hair has also been reported.
Moderate to severe intellectual disability is present in most cases.Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material.Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant's age and sex.Improper alignment of the upper and lower teeth (malocclusion) may also occur.Additional facial features include an abnormally small distance from the upper lip to the nose (short philtrum), incomplete closure of the roof of the mouth (cleft palate), an abnormal groove or gap in the upper lip (cleft lip), and abnormal fullness of the lower lip.