XXXXX SYNDROME
DEFINITION:
A disorder where affected females have five X chromosomes.
EPIDEMIOLOGY:
- incidence: rare, about 25 cases reported
- age of onset:
- risk factors:
PATHOGENESIS:
- first described by N. Kesaree and P.V. Wooley, J. Pediatr.
63: 1099 (1963).
- also called Penta X Syndrome and Chromosome X, Poly-X
2. Pathogenesis
- due to successive nondisjunctive meiotic divisions within
the mother
CLINICAL FEATURES:
- hypertelorism
- epicanthal folds
- low nasal bridge
- upward slanting palpebral fissures
- low hairline
- IUGR
- failure to thrive
- short stature
- small hands with 5th finger clinodactyly
- short neck
2. Neurological Manifestations
- IQ ranges from 20-75
- microcephaly
3. Endocrine Manifestations
- absent sexual development
- ovarian agenesis
4. Other Manifestations
- taurodontism
- enamal defects leading to premature loss of deciduous
anterior teeth
- dental malocclusion
2. Cardiovascular
- congenital heart disease (Patent Ductus Arteriosus,
Ventricular Septal Defect)
3. Musculoskeletal
- equinovarus, overlapping toes, multiple joint dislocations
(shoulder, elbow, hip, wrist, finger), radio-ulnar synostosis
4. Facial Features
- colobomata of the iris
- low-set ears, preauricular tags, macroglossia,
micrognathia, cleft palate
5. Renal
- horse-shoe kidney
- renal dysplasia
INVESTIGATIONS:
MANAGEMENT:
- Paediatrics, Endocrinology, Neurology, Cardiology, Dental,
Orthopedics
- genetic counselling
- supplemental teaching for poor school performance
ADDITIONAL REFERENCES:
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