What are the symptoms of cri du chat syndrome?
Cri du chat syndrome can present with a variety of symptoms. The most prominent sign of this disorder is a distinctive high-pitched cry, resembling that of a cat. This cry is typically observed during the first few weeks of a baby’s life and tends to diminish as the child grows older.
In addition to the characteristic cry, babies with cri du chat syndrome may exhibit distinct facial features such as:
- Unusually small head (microcephaly)
- Abnormally round face
- Wide nose
- Widely set eyes (hypertelorism)
- Crossed eyes (strabismus)
- Downward slanting eyelid folds (palpebral fissures)
- Extra fold of skin over the inner corner of the eyes (monolid eyes)
- Low-set ears
- Abnormally small jaw (micrognathia)
- Short distance from the upper lip to the nose (short philtrum)
As the child grows, their face may lose its plumpness and appear abnormally long and narrow. Other symptoms that may be present in individuals with cri du chat syndrome include:
- Low birth weight
- Delayed growth
- Feeding difficulties (poor sucking, dysphagia, GERD)
- Weak muscle tone (hypotonia)
- Curvature of the spine (scoliosis)
- Heart defects
- Developmental delays (head control, sitting up, walking)
- Speech and language delays
- Moderate to severe intellectual disability
What causes cri du chat syndrome?
Cri du chat syndrome is a chromosomal disorder caused by the deletion of a portion of the short arm (p arm) of chromosome 5. This deletion typically occurs randomly during the formation of reproductive cells (eggs or sperm) in early fetal development. It is important to note that parents of a child with a random deletion usually have normal chromosomes.
Inherited cases of cri du chat syndrome are rare, accounting for approximately 10% of cases. In these instances, the individual inherits the chromosome abnormality from an unaffected parent. The parent carries a balanced translocation, where no genetic material is lost or gained, and they typically do not experience any medical problems. However, when the parent passes on the balanced translocation to their child, it can become unbalanced, leading to cri du chat syndrome.
For more information on genetic disorders and inheritance patterns, refer to our guide on chromosomal abnormalities.
By understanding the symptoms and causes of cri du chat syndrome, we can provide better support and care for individuals with this condition. Early detection and intervention are crucial in helping affected individuals reach their full potential. If you suspect that your child or someone you know may have cri du chat syndrome, please consult a healthcare professional for a proper diagnosis and guidance.
