General
De Grouchy syndrome, 18q syndrome (also known as chromosome 18q, distal 18q deletion syndrome) is a very rare genetically determined congenital disorder caused by a chromosomal abnormality. The condition results from an error affecting chromosome 18, in which a portion of the chromosome is missing in the affected individual. The loss of genetic material subsequently leads to severe impairment of the organism. The disorder has two types, which differ according to the location of the chromosomal deletion.
Type 1 is associated with deletion of part of the short arm of the chromosome, while type 2 is associated with deletion of part of the long arm of the chromosome.
Symptoms
Affected individuals have short stature and exhibit deformities of the head and face. The head is often broad, and the neck is also broad and short. Dental deformities are present, along with drooping corners of the mouth and upper eyelids. The mouth may have a carp‑like appearance, and the ears are often protruding. Overall muscle strength is reduced, and the muscles are hypotonic. In boys, disorders of testicular descent and other genital abnormalities are common. Affected individuals have intellectual disability of varying severity.
Diagnosis
Chromosomal analysis of a sample of the patient’s cells demonstrates the absence of parts of chromosome 18. Most commonly, white blood cells obtained through a standard blood draw are examined.
Treatment
The syndrome cannot be prevented or cured. Physical deformities may be corrected surgically (plastic surgery). Intellectual disability requires an individualized approach and special educational and social care.
- nízka postava
- deformovaná hlava a tvár
- široký krk
- deformácie zubov
- poklesnuté viečka a kútiky úst
- kaprovité ústa
- odstávajúce uši
- ochabnuté svalstvo
- u chlapcov zostup semenníkov
- pohlavné abnormality
- ľahká až ťažká mentálna retardácia
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