ORPHA:642763
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Also known as: H1-4-related neurodevelopmental disorder · Rahman syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by mild to severe frequently co-occuring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, , cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
316
316 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
316 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
311 in the last 10 years · medium confidence · 86.1th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (H1-4).
GenCC classification: Definitive.
Who's working on it?
1,761
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Sadikovic B22 papers · 2026
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 02Kerkhof J15 papers · 2026
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 03McConkey H12 papers · 2025
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 04Levy MA10 papers · 2026
Verspeeten Clinical Genome Centre; London Health Sciences Centre, London, ON N6A 5W9, Canada.
Papers in Europe PMC - 05Tatton-Brown K10 papers · 2025
Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, United Kingdom.
Papers in Europe PMC - 06Haghshenas S7 papers · 2024
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Papers in Europe PMC - 07Alders M6 papers · 2025
Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
Papers in Europe PMC - 08Baralle D6 papers · 2026
Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.
Papers in Europe PMC - 09Cormier-Daire V6 papers · 2025
Université de Paris, Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015 Paris, France.
Papers in Europe PMC - 10Kumar A6 papers · 2026
North East Thames Regional Genetics Service and Department of Clinical Genetics, Great Ormond Street Hospital, London, WC1N 3JH, United Kingdom.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation" OR "H1-4-related neurodevelopmental disorder" OR "Rahman syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation" OR "H1-4-related neurodevelopmental disorder" OR "Rahman syndrome" OR "H1-4"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617537 UMLS:C4479637
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (316) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium