ORPHA:314555
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Also known as: Hamamy syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
30
41.2th percentile
Trials
0
Interventional, condition-specific
Researchers
234
Distinct authors in sample
Gene link
IRX5
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild .
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012634
- MeSH:C566988
- OMIM:611174
- UMLS:C1970027
Additional Mondo synonyms (1)
IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — IRX5
- LiteraturePresent
30 matched papers (26 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (IRX5).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
30
30 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=5449) is 41.
30 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
26 in the last 10 years · high confidence · 41.2th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
234
Distinct author names in 30 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.
- 01Gaborit N3 papers · 2021
Gladstone Institute of Cardiovascular Disease, San Francisco, CA 94158, USA.
Papers in Europe PMC - 02Hui CC3 papers · 2024
Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Papers in Europe PMC - 03Bonnard C2 papers · 2021
Human Embryology and Genetics Laboratory, Institute of Medical Biology, ASTAR, Singapore 138648, Singapore.
Papers in Europe PMC - 04Bruneau BG2 papers · 2016
Gladstone Institute for Cardiovascular Disease, San Francisco, CA 94158, USA; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
Papers in Europe PMC - 05Hamamy H2 papers · 2021
Department of Genetic Medicine and Development, Geneva University, Geneva 1211, Switzerland.
Papers in Europe PMC - 06Kayserili H2 papers · 2021
Medical Genetics Department, Koc University School of Medicine, Rumelifeneri Yolu, Sarıyer, Istanbul 34450, Turkey; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University Topkapi, Fatih, 34093 lstanbul, Turkey.
Papers in Europe PMC - 07Kim KH2 papers · 2021
University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, ON K1Y 4W7, Canada.
Papers in Europe PMC - 08Reversade B2 papers · 2021
Human Embryology and Genetics Laboratory, Institute of Medical Biology, ASTAR, Singapore 138648, Singapore.
Papers in Europe PMC - 09Akgul T1 paper · 2015Papers in Europe PMC
- 10Al Sayed ZR1 paper · 2021
Université de Nantes, CNRS, INSERM, l'institut du thorax, 8 quai Moncousu, F-44000 Nantes, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
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 — 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 on the overview but are not added to the query string.
"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome" OR "Hamamy syndrome" OR "IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies"
MeSH descriptor terms unioned into the query: Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome" OR "Hamamy syndrome" OR "IRX5-related craniofacial dysostosis with osteopenia, intellectual disability, and dental anomalies" OR "Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility" OR "IRX5"
Recall-expansion terms: IRX5
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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
Ingested 2026-07-27T13:08:27.732Z