Genetic & Chromosomal Conditions
Diagnoses caused by changes in genes or chromosomes — from common conditions like Down syndrome to rare disorders like White-Sutton syndrome.
About this category
Genetic and chromosomal conditions are diagnoses present from conception, caused by differences in a person's DNA — either an inherited gene change, a spontaneous variant, or a structural change to one or more chromosomes (extra, missing, or rearranged material).
Some conditions in this category are common and well known, like Down syndrome and Fragile X. Others are rare disorders such as Angelman, Rett, Prader-Willi, and White-Sutton syndrome.
Care is usually multidisciplinary — combining genetic counseling, developmental pediatrics, therapy services, and education planning. The directory helps you find each piece of that team near you.
How to use this page
- 1
Pick a condition
Browse the conditions below to open a dedicated page with overview, symptoms, and care guidance.
- 2
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We'll surface professionals, organizations, and benefits available in New York.
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Browse Genetic & Chromosomal Conditions
Tap any condition to view care guidance, professionals, and resources in New York.
Down Syndrome
A chromosomal condition caused by an extra copy of chromosome 21.
Fragile X Syndrome
The most common inherited cause of intellectual disability.
Rett Syndrome
A rare genetic neurological and developmental disorder primarily affecting girls.
Prader-Willi Syndrome
A complex genetic condition affecting appetite, growth, metabolism, and behavior.
Angelman Syndrome
A genetic disorder causing developmental disabilities and neurological problems.
Williams Syndrome
A genetic condition characterized by unique facial features, heart problems, and a highly social personality.
Turner Syndrome
A condition in females where one X chromosome is partially or completely missing.
Cri du Chat Syndrome
A rare chromosomal condition caused by a deletion on chromosome 5.
Jacobsen Syndrome
A rare chromosomal disorder caused by a deletion on the long arm of chromosome 11.
22q11.2 Deletion Syndrome (DiGeorge)
A genetic disorder caused by a small missing piece of chromosome 22, affecting multiple body systems.
Noonan Syndrome
A genetic disorder causing distinctive facial features, short stature, heart defects, and developmental delays.
Tuberous Sclerosis Complex
A genetic condition causing benign tumors to grow in the brain and other organs.
White-Sutton Syndrome
A rare genetic disorder caused by POGZ gene variants, marked by developmental delay, intellectual disability, and autism features.
SYNGAP1-Related Intellectual Disability
A rare genetic disorder caused by SYNGAP1 gene mutations, causing intellectual disability, epilepsy, and autism features.