Chromosomal
Down Syndrome:
Turner Syndrome:
Incidence of 1/5000 live female births; due to loss of second X chromosome by nondisjunction during gamate formation;
Foot – swollen at birth; small convex nails.
Treatment – symptom reduced with oestrogen and growth hormone replacement.
Noonan Syndrome:
Short stature, intellectual disability, webbing of the neck, low posterior hairline
Trichorhinophalangeal Syndrome (TRP):
Prader-Willi Syndrome:
Rubenstein-Toybi Syndrome:
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