Dwarfism
What is it?
Dwarfism is short stature, which is defined as an adult height of less than 4 feet 10 inches, or 147 centimeters. It is caused by medical or genetic conditions, and divided into two subgroups- disproportionate or proportionate dwarfism. Disproportionate dwarfism refers to a condition in which some parts of the body are small, while others are normal sized or above the average. The disorders which cause this kind of dwarfism inhibit bone development. The most common cause for disproportionate dwarfism is achondroplasia Proportionate dwarfism is when all body parts are small to the same degree. DIsorders which cause this subtype are medical conditions present at birth or appearing in early childhood.
Additional names
This group contains additional names:
- Langer mesomelic dysplasia syndrome
- Thanatophoric dysplasia
- Homozygous Leri Weill dyschondrosteosis syndrome
- Constitutional short stature
- Congenital malformation syndromes associated with short stature
Signs & symptoms
Symptoms may vary depending on the cause and subtype. People who have disproportionate dwarfism have normal intelligence. They can have either a big trunk with short limbs or a big head. The most common cause for disproportionate dwarfism is achondroplasia which may present with other symptoms including short upper arms and legs, short fingers, limited mobility in the elbows, large head, prominent forehead, flattened bridge nose,bowed legs and swayed lower back. A rare disorder called spondyloepiphyseal dysplasia congenita (SEDC) may also cause disproportionate dwarfism with characteristics such as very short trunk, neck and limbs with normal size hands and feet, hip deformities, arthritis and others. In proportionate dwarfism,which may result from growth hormone deficiency, limbs are all short as well as the head and trunk. These kids will grow slower and less than expected and may have delayed or no sexual development during adolescence.
Diagnosis
Diagnosis may even start during pregnancy, if a disproportion in body parts is seen on ultrasound. Otherwise, the pediatrician will probably measure height, weight and head circumference of the baby and put them on charts. The appearance of the child may also help the diagnosis, imaging tests such as X-ray on an MRI, hormone test, genetic tests and family history may all help with the diagnosis and finding the cause for dwarfism
Treatment
There is no cure for dwarfism and treatment depends on the underlying cause and other complications, if they exist. If there is a growth hormone deficiency, it is possible to receive daily injections of a synthetic version of the hormone until the child reaches a maximum adult height. For Turner syndrome, girls are usually given estrogen replacement therapy in order to begin puberty, until menopause. Surgical treatments are sometimes needed for bone alignment, stabilization and correction of the spine.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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