Chromosome 18q Syndrome
It is a rare chromosomal disorder in which there is deletion of part of long arm(q) of chromosome 18.
Signs & Symptoms:
- Low birth weight and growth delay after birth.
- Sudden uncontrolled seizures.
- Delay in acquisition of skills requiring co-ordination of mental and physical activities.
- Varying degree of mental retardation.
- Behavioral problems like hyper activity, aggressive nature, tantrums.
- Facial changes like small head (microcephaly), flat facial regions, deeply set eyes, broad nasal bridge and incomplete closure of roof of mouth.
- Ocular defects like rapid, rhythmic, involuntary eye movements (Nystagmus), small eyes and reticular defects.
- Associated with deformities of hand and feet.
Diagnosis:
- Before Birth-By special tests such as ultrasonography, amniocentesis, chorionic
virus sampling (CVS).
- After Birth-By physical findings and chromosomal analysis.
Treatment:
- By co-ordinate efforts of a team of medical professionals such as pediatricians,
surgeons, neurologists, eye specialists, physicians and physiotherapists.
- For ocular defects : Corrective lenses, surgery, spectacles.
- For seizures : Anticonvulsant medicines.
- For growth delay and mental skills : Physiotherapy Management.
PRIYANKA AGARWAL
(Final Year, BPT)
