This module provides an alphabetical overview of genetic, chromosomal, neurological, and medical conditions, many of which are rare and may require specialist diagnosis and lifelong support.
A — Aicardi Syndrome
A rare genetic condition involving absence of the corpus callosum, infantile seizures, and eye abnormalities. Mainly affects girls.
B — Brugada Syndrome
A genetic heart condition causing dangerous irregular heart rhythms, increasing risk of sudden cardiac arrest.
C — Cri-du-chat Syndrome
A chromosomal disorder causing a high-pitched cry in infancy, intellectual disability, and delayed development.
D — Down Syndrome
A common chromosomal condition causing intellectual disability, developmental delays, and distinct physical features.
E — Edwards Syndrome
A severe genetic disorder with multiple organ abnormalities and low life expectancy.
F — Fragile X Syndrome
The most common inherited cause of intellectual disability, linked to a mutation in the FMR1 gene.
G — Gitelman Syndrome
A kidney disorder causing electrolyte imbalance (low potassium and magnesium), leading to fatigue and muscle weakness.
H — Hutchinson-Gilford Progeria Syndrome
A rare condition causing rapid aging in children, leading to early cardiovascular complications.
I — Irritable Bowel Syndrome
A common digestive condition causing abdominal pain, bloating, and altered bowel habits.
J — Joubert Syndrome
A rare genetic disorder affecting brain development, leading to coordination, breathing, and eye movement difficulties.
K — Klinefelter Syndrome
A genetic condition in males caused by an extra X chromosome, affecting physical development and fertility.
L — Leigh Syndrome
A severe neurological condition in infancy causing progressive loss of movement and mental abilities.
M — Marfan Syndrome
A genetic condition affecting connective tissue, often impacting the heart, eyes, and skeleton.
N — Noonan Syndrome
A condition causing distinctive facial features, heart defects, and short stature.
O — Osteogenesis Imperfecta
A group of genetic disorders causing fragile bones that break easily.
P — Patau Syndrome
A severe chromosomal disorder causing major physical and intellectual disabilities.
Q — Long QT Syndrome
A heart rhythm disorder that can cause sudden, life-threatening arrhythmias.
R — Rett Syndrome
A genetic brain disorder affecting mostly girls, causing loss of speech and motor skills after early development.
S — Sjögren's Syndrome
An immune system condition causing dry eyes and mouth, often alongside other autoimmune diseases.
T — Turner Syndrome
A condition where one X chromosome is missing or incomplete, affecting growth and development.
U — Usher Syndrome
A genetic condition causing hearing loss and progressive vision loss (retinitis pigmentosa).
V — Van der Woude Syndrome
A genetic condition commonly causing cleft lip and/or palate.
W — Williams Syndrome
A condition affecting development, cardiovascular health, and social personality traits.
X — X-linked Ichthyosis
A skin condition causing dry, scaly skin due to a genetic mutation on the X chromosome.
Y — Yunis-Varón Syndrome
An extremely rare condition involving severe skeletal abnormalities and developmental issues.
Z — Zellweger Syndrome
A rare genetic disorder where cells cannot properly break down fatty acids, affecting brain and organ function.
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