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AARSKOG SYNDROME

DEFINITION:

An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.

EPIDEMIOLOGY:

incidence: rare (100 cases worldwide)
age of onset:
- newborn
risk factors:
- familial - x-linked recessive
  - chrom.#: Xq13
  - gene: ?

PATHOGENESIS:

genetic defect -> unknown etiology

CLINICAL FEATURES:

1. Musculoskeletal Manifestations

1. Short Stature (90%)

may present prenatally or within the first 1-3 years of life
parallels growth curve at or <3rd % until puberty

2. Facies

hypertelorism (90%)
small nose with anteverted nares (90%)
broad philtrum (85%)
broad nasal bridge (85%)
abnormally-shaped auricles (75%)
widow's peak (60%)
ptosis (50%)
others: maxillary hypoplasia, hypodontia, retarded dental eruption, orthodontic problems

3. Limbs

brachyclinodactyly (80%)
broad feet with bulbous toes (75%)
simian crease (70%)
syndactyly (60%)
others: hyperextension of PIP joints & flexion of DIP joints

2. Genitourinary Manifestations

'shawl' scrotum (80%)
cryptorchidism (75%)
inguinal hernia (60%)

3. Ophthalmologic Manifestations

hyperopic astigmatism
large corneas
ophthalmoplegia
strabismus

4. Other Manifestations

delayed puberty
mild pectus excavatum
prominent umbilicus

INVESTIGATIONS:

1. Imaging Studies

1. Skeletal X-Rays

delayed bone age

MANAGEMENT:

1. Supportive

no treatment for disease
normal lifespan
multidisciplinary approach
- Paediatrics
- Surgery for cryptorchidism and inguinal hernia
- genetic counselling

Pediatric Database - AARSKOG SYNDROME

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