Wikis > Paediatrics > Syndromes > 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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