ACHONDROPLASTIC DWARFISM

SYMPTOMS

The normal intellect characterizes achondroplastic dwarfism. Their symptoms are physical rather than mental.

An infant with this syndrome is likely to exhibit the following characteristics at birth:

• short legs and arms, particularly thighs and upper arms, compared to body height
• a head that is excessively big in comparison to the body
• a facial underdevelopment between the upper jaw and the forehead
• a small height that is much shorter than usual for age and gender
• short fingers with the middle and ring fingers pointing in opposite directions
• a huge and prominent forehead

An infant’s health concerns may include the following:

• Apnea
• Spinal stenosis
• Decreased muscle one
• Hydrocephalus

Adults and kids with achondroplastic may:

• have trouble bending their elbows
• be obese
• develop bowed legs
• develop new or worsening spinal stenosis
• suffer from recurring ear infections as a result of limited passages in the ears
• develop kyphosis or lordosis, which is an abnormal curvature of the spine
• develop new or worsening spinal stenosis

DIAGNOSIS

If your baby’s limbs and legs are shorter than typical and their head is huge, doctors may use ultrasounds to discover achondroplastic dwarfism before birth. The majority of instances of achondroplastic dwarfism are not diagnosed until after delivery.

Achondroplastic dwarfism is diagnosed through the following:

• Physical examination
• Genetic testing (FGFR3 gene)
• Xray
• Prenatal examination (if either one or both parents are affected)
• CT scan or MRI to detect spinal cord compression or muscular weakness

TREATMENT

Achondroplastic dwarfism has no known cure or therapy. If any difficulties emerge, your doctor will deal with them. Antibiotics, for example, are administered to treat ear infections, and surgery may be undertaken for severe spinal stenosis.

Some physicians utilize growth hormones to increase a child’s bone development. However, their long-term effects on height have yet to be determined and are considered minor at best.