Gejala. Penyebab. Faktor risiko. Diagnosis. Pengobatan. Pada beberapa bayi, ditemukan kasus suara tangisan yang menyerupai suara kucing. Sayangnya, ini termasuk kondisi cacat lahir pada bayi yang disebut dengan sindrom cri du chat. Kondisi ini disebabkan karena adanya kelainan pada gen, tetapi bukan termasuk kondisi keturunan.
Symptoms of Williams syndrome include: Chronic ear infections and/or hearing loss. Dental abnormalities, such as poor enamel and small or missing teeth. Elevated calcium level in the blood. Endocrine abnormalities: hypothyroidism, early puberty and diabetes in adulthood. Farsightedness. Feeding difficulties in infancy.
The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.
Telecanthus is usually a symptom of a genetic disorder that's present when your baby is born. The most common genetic disorders that cause telecanthus include: Cri du chat syndrome (may cause problems with growth and development, including a high-pitched, cat-like cry). Down syndrome. Dubowitz syndrome. Ehlers-Danlos syndrome.
Cri-du-chat is a rare condition caused by a defect in the genes. A piece of the short arm of chromosome 5 is missing or deleted. The number and severity of symptoms shown will depend on how much is missing from the chromosome. Another name for Cri-du-chat is 5p syndrome because '5p' means the short arm of chromosome 5.
Cri du chat syndrome is often diagnosed at birth. The symptoms in a newborn baby can include: a high-pitched, cat-like cry or weak cry. low birth weight. a small head. a rounded face. a broad, flattened bridge of the nose. eyes spaced wide apart. folds of skin over the eyelids.
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symptoms of cri du chat