How is Rahman syndrome inherited?

Rahman syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Rahman syndrome?

Rahman syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Rahman syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Rahman syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Rahman syndrome?

Rahman syndrome can lead to challenges in growth and brain development, which may affect learning and daily activities. Some individuals may experience ongoing issues with intellectual disability and physical overgrowth, which could require special support and care throughout their lives.

How does Rahman syndrome affect daily life for individuals and their families?

Living with Rahman syndrome can mean that individuals may need extra help with learning and daily tasks due to intellectual disability. Families may need to work closely with educators and healthcare providers to create supportive environments that cater to the unique needs of their loved ones.

What is the life expectancy for someone with Rahman syndrome?

Currently, there is limited information about the life expectancy of individuals with Rahman syndrome. The impact of the condition can vary widely, so ongoing medical care and support can help improve quality of life and address any health concerns as they arise.

Are there specific specialists that should be involved in the care of someone with Rahman syndrome?

Yes, individuals with Rahman syndrome may benefit from a team of specialists, including pediatricians, neurologists, and developmental therapists. These professionals can help manage the various aspects of the condition, including growth, learning, and any physical challenges that may arise.

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Rahman syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Rahman syndrome

MONDO:0044323

Also known as:autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutationRMNS

Overview

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).

GeneticsAutosomal dominant · H1-4 (chr 6)

OnsetNEONATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intellectual disability, Full cheeks, Global developmental delay, and High anterior hairline and others; and common findings: Feeding difficulties and Neonatal hypotonia. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Anxiety, Enlarged brain ventricles (ventriculomegaly), Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

H1-4 encodes H1.4 linker histone, cluster member (219 aa). Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Highest expression in Vagina (3.9 TPM) and Breast Mammary Tissue (3.3 TPM).

Rahman syndrome is associated with mutations in the H1-4 gene on chromosome 6.

H1-4 is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for HIST1H1E syndrome have been published.

Suggestive Findings

HIST1H1E syndrome should be considered in individuals with the following clinical findings [, , , , ]. Clinical findings include mild-to-profound developmental delay or intellectual disability AND a combination of the following features presenting in infancy or childhood:

Source: GeneReviews — "HIST1H1E Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Rahman syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for HIST1H1E syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with HIST1H1E syndrome, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with HIST1H1E Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with HIST1H1E Syndrome

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Rahman syndrome.

26 publications have been identified in PubMed for Rahman syndrome. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (27%), and Other (8%).

Research Type	Count	% of Total
Patient case studies	13	50%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 11:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617537

Orphanet

European rare disease database

Orphanet:642763

GARD

Genetic and Rare Diseases Info Center

GARD:13422

Questions for Your Care Team

→Should I pursue genetic testing for H1-4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Rahman syndrome

Rahman syndrome is a condition that affects growth and brain development. It is characterized by mild to severe intellectual disability and somatic overgrowth, which can include increased birth length, height, weight, or head size. The overgrowth may be noticed in infancy and can sometimes decrease as a person gets older, or it may continue into later childhood. In addition to the developmental challenges, some people with this condition may have distinct facial features, misaligned eyes (strabismus), or bent fingers (camptodactyly). Rahman syndrome is believed to result from a defect in the way genes are regulated, particularly affecting the H1-4 gene.

Common signs of Rahman syndrome include intellectual disability and somatic overgrowth, such as a larger head size, increased height, and weight during infancy. Some individuals may also show minor physical differences like distinctive facial features, strabismus, or camptodactyly.

Rahman syndrome is caused by a defect in epigenetic regulation, which affects gene expression. Changes in the H1-4 gene have been linked to the condition. This genetic mutation disrupts normal growth and development. Associated genes include H1-4.

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System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl:; Motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Behavior	Neuropsychiatric eval	For persons age 12 mos: evaluate for behavior concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD.
Neurologic	Neurologic eval	EEG if seizures are a concern; Consider brain MRI if there are focal neurologic findings.
Genitourinary	Examine males for cryptorchidism.	If present, referral to pediatric urologist.
Cardiovascular	Echocardiogram	To evaluate for structural cardiac anomalies
Endocrine	TSH T4	To evaluate for hypothyroidism Skeletal
abnormalities	Assessment of head shape for sutural ridging in infants	If abnormal, consider head CT w/3D reconstruction to assess for craniosynostosis. Physical exam to assess for evidence of scoliosis
dentition	Dental eval to assess for caries, evidence of thin enamel, hypodontia	Panorex may be considered if hypodontia is suspected
Eyes	Ophthalmology eval	To assess for strabismus, refractive error Genetic
counseling	By genetics professionals1	To inform persons their families re nature, MOI, implications of HIST1H1E syndrome to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with HIST1H1E Syndrome Manifestation/Concern	Treatment	Considerations/Other Developmental delay /
Intellectual disability	See .	—
Behavioral	Behavioral mgmt strategies consideration of medication to treat ADHD	In consultation w/developmental pediatrician or psychiatrist
Seizures	Standardized treatment w/ASMs by experienced neurologist	Education of parents/caregivers1
Cryptorchidism in males	Standard treatment per urologist	—
Congenital heart defects	Standard treatment per cardiologist	—
Hypothyroidism	Thyroid hormone replacement per endocrinologist	—
Craniosynostosis	Standard treatment, ideally through a craniofacial center	Treating physicians may incl neurosurgeons plastic surgeons.
Scoliosis	Standard treatment per orthopedist	Decreased bone mineral density
Abnormal dentition	By a pediatric dentist specializing in care of children w/neurodevelopmental disorders /or enamel hypoplasia	When possible
Hearing loss	Hearing aids may be helpful; per otolaryngologist.	Community hearing services through early intervention or school district; if conductive hearing loss, pressure-equalizing tube placement could be considered. Strabismus /
Refractive error	Standard treatment per ophthalmologist	Family/Community

Kisho

Rahman syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

Rahman syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Rahman syndrome?

What are the symptoms of Rahman syndrome?

What causes Rahman syndrome?

How is Rahman syndrome inherited?

How rare is Rahman syndrome?

How is Rahman syndrome diagnosed?

Are there treatments for Rahman syndrome?

What complications can arise from Rahman syndrome?

How does Rahman syndrome affect daily life for individuals and their families?

What is the life expectancy for someone with Rahman syndrome?

Are there specific specialists that should be involved in the care of someone with Rahman syndrome?

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications