Physical malformation/abnormal stature

This man has a serious physical abnormality - his testicles have fallen off, due to steroid overuse. Shame.

Definition

Anything that causes someone to have an abnormal physical shape or posture.

Epidemiology

Fairly common.

Pathophysiology

Two main types:
Before birth

• These are genetic ones that happen in the womb, and include Down's, Turner's, Spina bifida, and anencephaly (being born without a head), Osteogenesis imperfecta (Brittle Bones) and Achondroplasia (dwarfism).
• Also ones caused by teratogenic drugs, such as alcohol, benzodiazepines, sodium valproate and thalidomide.
• Some infections like rubella and syphilis - see the Infections in pregnancy page for more.

After birth

• Thyroid hormone - hypothyroidism in children can lead to stunted growth. hyperthyroidism causes tall thin children, but more symptomatic.
• Growth hormone - in children, too much causes gigantism, too little causes stunted growth. In adults, excess growth hormone causes acromegaly, which is growth of extremities, hands and jaw. Usually caused by pituitary adenoma.
• Cystic Fibrosis - causes
• Coeliac disease

Management

Down's syndrome Turner's syndrome Hormonal problem (e.g. delayed puberty) Intrauterine growth retardation Uncommon but illustrative

Hormonal problems (e.g. pituitary and thyroid disorders in children) Achondroplasia