ORPHA:643503
Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Publications
16
33.4th percentile
Trials
0
Interventional, condition-specific
Researchers
129
Distinct authors in sample
Gene link
ABL1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome without characterized by heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable facial features (notably long face with narrow maxilla and pointed chin) and . Addinitonal clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.
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:0060532
- OMIM:617602
- UMLS:C4539857
Additional Mondo synonyms (2)
congenital heart defects and skeletal malformations syndrome · marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
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.”
3/6 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 — ABL1
- LiteraturePresent
16 matched papers (16 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Upslanted palpebral fissure; Anal atresia; Short stature) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (ABL1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
45
Associated phenotypes · MONDO:0060532
- Upslanted palpebral fissure
- Anal atresia
- Short stature
- Medial flaring of the eyebrow
- Narrow nose
Showing 5 of 45 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
16
16 papers have ever been indexed 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=3967) is 59.
16 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
16 in the last 10 years · high confidence · 33.4th percentile (publications denominator)
Phrase hits: 16 · MeSH hits: 0
Who's working on it?
129
Distinct author names in 16 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.
- 01Alkuraya FS3 papers · 2024
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Papers in Europe PMC - 02Abdulwahab F2 papers · 2024
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 03AlAbdi L2 papers · 2024
Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 04Reutter H2 papers · 2025
Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.
Papers in Europe PMC - 05Abouyousef O1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 06Al Masseri Z1 paper · 2021
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 07Al-Zaidan HI1 paper · 2021
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Almulhim A1 paper · 2023
Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Alonso-Gonzalez R1 paper · 2023
Toronto Adult Congenital Heart Disease Program, Peter Munk Cardiac Centre, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 10Alqahtani M1 paper · 2023
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome — check Associations / patient organisations on that page.
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.
"Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome" OR "congenital heart defects and skeletal malformations syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome" OR "congenital heart defects and skeletal malformations syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 2026-07-27T19:38:48.436Z