- Muhtasari wa Matatizo ya Jeni na Kromosomu
- Ugonjwa wa Down (Trisomy 21)
- Trisomia 18
- Trisomia 13
- Muhtasari wa Ugonjwa wa Ufutaji wa Kromosomu
- Ugonjwa wa Cri-du-Chat
- Ugonjwa wa Prader-Willi
- Ugonjwa wa Wolf-Hirschhorn
- Muhtasari wa Kasoro za Kromosomu ya Ngono
- Ugonjwa wa Fragile X
- Ugonjwa wa Klinefelter
- Ugonjwa wa Noonan
- Trisomia X
- Ugonjwa wa Turner
- Ugonjwa wa XYY
Cri-du-chat syndrome is a chromosomal deletion syndrome in which part of chromosome 5 is missing.
(See also Overview of Chromosome and Gene Disorders.)
Cri-du-chat syndrome is a rare syndrome in which part of chromosome 5 is missing. The size of the missing part varies, and people who have larger deletions are often more severely affected.
Dalili za Ugonjwa wa Cri-du-Chat
Symptoms of cri-du-chat syndrome often include a characteristic high-pitched, mewing cry that sounds like a kitten crying. This cry may be heard immediately after birth, lasts several weeks, and then disappears. However, not all affected newborns have this distinct cry.
An infant with this syndrome may have a low birth weight and a small head with many abnormal features, including a round face, small jaw, wide nose, widely separated eyes, crossed eyes (strabismus), and abnormally shaped ears set low in the head. Often the infant seems limp. Webbed fingers and toes (syndactyly) and heart defects are common.
There are significant limitations in mental and physical development.
Many children with cri-du-chat syndrome survive to adulthood but typically have substantial disabilities.
Utambuzi wa Ugonjwa wa Cri-du-Chat
Chromosomal testing
The diagnosis of cri-du-chat syndrome may be suspected before birth or by the child's physical characteristics after birth.
The diagnosis can be confirmed by chromosomal testing. (See also Next-generation sequencing technologies.)
Matibabu ya Ugonjwa wa Cri-du-Chat
Supportive care
Treatment of cri-cu-chat syndrome is supportive.
