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:

a. Musculoskeletal Manifestations

1. Short Stature (90%)

• may present prenatally or within the first 1-3 years of life
• parallels growth curve at or <3rd>

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

b. Genitourinary Manifestations

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

c. Ophthalmologic Manifestations

• hyperopic astigmatism
• large corneas
• ophthalmoplegia
• strabismus

4. Other Manifestations

• delayed puberty
• mild pectus excavatum
• prominent umbilicus

INVESTIGATIONS:

Imaging Studies : Skeletal X-Rays --> delayed bone age

MANAGEMENT

Supportive :

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