ORPHA:210144
Lethal polymalformative syndrome, Boissel type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
100
54.8th percentile
Trials
0
Interventional, condition-specific
Researchers
69
Distinct authors in sample
Gene link
FTO
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, lethal, multiple anomalies/ syndrome characterized by , severe , severe postanatal microcephaly, frequent cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/, sensorineural deafness, hydrocephalus, cerebral atrophy, ), as well as brachydactyly, cutis marmorata and genital anomalies.
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:0013050
- MeSH:C567856
- OMIM:612938
- UMLS:C2752001
Additional Mondo synonyms (1)
growth retardation, developmental delay, facial dysmorphism
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 — FTO
- LiteraturePresent
100 matched papers (83 in last 10 years) Source
- Phenotype characterisedPresent
31 HPO annotations (e.g. Seizure; Alveolar ridge overgrowth; Hypoplastic toenails) 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 (FTO).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
31
Associated phenotypes · MONDO:0013050
- Seizure
- Alveolar ridge overgrowth
- Hypoplastic toenails
- Patent ductus arteriosus
- Thin vermilion border
Showing 5 of 31 — 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?
100
100 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=3967) is 59.
100 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).
83 in the last 10 years · high confidence · 54.8th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
69
Distinct author names in 7 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.
- 01Abdel-Ghafar SF1 paper · 2025
Medical Molecular Genetics Department, National Research Centre, Human Genetics and Genome Research Institute, Cairo 12622, Egypt.
Papers in Europe PMC - 02Abdel-Hamid MS1 paper · 2025
Medical Molecular Genetics Department, National Research Centre, Human Genetics and Genome Research Institute, Cairo 12622, Egypt.
Papers in Europe PMC - 03Albertson D1 paper · 2005Papers in Europe PMC
- 04Alehashemi S1 paper · 2019
Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.
Papers in Europe PMC - 05Alsaleem H1 paper · 2019
Department of Pediatric Rheumatology, University of Toronto and the Hospital for Sick Children, Toronto, Ontario, Canada.
Papers in Europe PMC - 06Alves CAPF1 paper · 2025
Division of Neuroradiology, Department of Radiology, Boston Children's Hospital-BCH Harvard Medical School, Boston, MA 02115, USA.
Papers in Europe PMC - 07Bacchetta R1 paper · 2019
Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford School of Medicine, Stanford, Calif.
Papers in Europe PMC - 08Bik Multanowski M1 paper · 2021
Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, 30-663 Krakow, Poland.
Papers in Europe PMC - 09Canna SW1 paper · 2019
Division of Rheumatology/RK Mellon Institute, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pa.
Papers in Europe PMC - 10Chen XY1 paper · 2019
Department of Gastroenterology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Yishan Road 600, Shanghai, 200233, China.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).
Uncertain / not reviewed (1)
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 Lethal polymalformative syndrome, Boissel type — 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.
("Lethal polymalformative syndrome, Boissel type" OR "growth retardation, developmental delay, facial dysmorphism") OR (MESH:"Growth Retardation, Developmental Delay, Coarse Facies, And Early Death") OR ("FTO syndrome" OR "FTO-related")MeSH descriptor terms unioned into the query: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lethal polymalformative syndrome, Boissel type" OR "growth retardation, developmental delay, facial dysmorphism" OR "Growth Retardation, Developmental Delay, Coarse Facies, And Early Death"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T09:29:53.880Z