Living with Rahman syndrome
A genetic condition with intellectual disability and overgrowth in height, weight, or head size that shows in infancy.
Understanding Rahman syndrome
Overgrowth can show as greater birth length, height, weight, or head size. It is apparent in infancy and may lessen with time or persist. Features vary and can include facial differences, crossed eyes, or bent fingers. GARD says it is thought to result from a problem in epigenetic regulation, which is how genes are switched on and off.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delays in development
- Feeding difficulties
- Low muscle tone as a newborn
- Full cheeks and wide-set inner eye corners
- High frontal hairline
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in H1-4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the H1-4 gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to h1-4 mutation; autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1-4 mutation; autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1.4 linker histone, cluster member mutation; h1-4-related neurodevelopmental disorder
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Rahman syndrome.
Explore research for Rahman syndrome
Explore actively recruiting Rahman syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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