Overview
Atkin-Flaitz syndrome, also known as X-linked mental retardation Atkin type, is a very rare genetic condition that primarily affects males. It was first described by Atkin and Flaitz and is characterized by intellectual disability, distinctive facial features, and short stature. Affected individuals typically show moderate to severe intellectual disability, which becomes apparent in early childhood as developmental milestones are delayed. The facial features associated with this syndrome may include a broad face, a prominent forehead, a short nose with a broad tip, and a wide mouth. Some individuals may also have a large head (macrocephaly) and obesity or a tendency toward being overweight. Because this condition is X-linked, it mainly affects boys and men, while females who carry the gene change are usually unaffected or only mildly affected. There is currently no cure for Atkin-Flaitz syndrome. Treatment focuses on managing symptoms and supporting development through early intervention programs, special education, speech therapy, and occupational therapy. Regular follow-up with a team of specialists helps ensure the best possible quality of life for affected individuals.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentShort statureBroad or round faceProminent foreheadShort nose with broad tipWide mouthLarge head size (macrocephaly)Obesity or tendency to be overweightDelayed motor milestonesBehavioral difficultiesLow muscle tone in infancy
Clinical phenotype terms (16)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Atkin-Flaitz syndrome.
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Specialists
View all specialists →No specialists are currently listed for Atkin-Flaitz syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Atkin-Flaitz syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What level of intellectual disability does my child have, and what support services are recommended?,Should we pursue genetic testing to confirm the diagnosis or identify the specific gene involved?,What early intervention therapies should we start, and how often?,Are there any medical complications we should watch for as my child grows?,What educational accommodations should we request at school?,Is there a risk that future children could also be affected, and should we see a genetic counselor?,Are there any clinical trials or research studies we could participate in?
Common questions about Atkin-Flaitz syndrome
What is Atkin-Flaitz syndrome?
Atkin-Flaitz syndrome, also known as X-linked mental retardation Atkin type, is a very rare genetic condition that primarily affects males. It was first described by Atkin and Flaitz and is characterized by intellectual disability, distinctive facial features, and short stature. Affected individuals typically show moderate to severe intellectual disability, which becomes apparent in early childhood as developmental milestones are delayed. The facial features associated with this syndrome may include a broad face, a prominent forehead, a short nose with a broad tip, and a wide mouth. Some indiv
How is Atkin-Flaitz syndrome inherited?
Atkin-Flaitz syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Atkin-Flaitz syndrome typically begin?
Typical onset of Atkin-Flaitz syndrome is childhood. Age of onset can vary across affected individuals.