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Physical malformation/abnormal stature
Anything that causes someone to have an abnormal physical shape or posture.
Two main types:
- 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.
- 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
Clinical and Associated Features
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