ORPHA:1226
Bamforth-Lazarus syndrome
Also known as: Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome · Hypothyroidism-cleft palate syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
90
55th percentile
Trials
0
Interventional, condition-specific
Researchers
744
Distinct authors in sample
Gene link
FOXE1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A very rare syndrome of hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
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:0009437
- MeSH:C537901
- OMIM:241850
- UMLS:C1855794
Additional Mondo synonyms (1)
hypothyroidism-cleft palate 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.”
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
Definitive — FOXE1
- LiteraturePresent
90 matched papers (55 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 (FOXE1).
GenCC classification: Definitive.
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?
90
90 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.
90 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).
55 in the last 10 years · high confidence · 55th percentile (publications denominator)
Phrase hits: 90 · MeSH hits: 0
Who's working on it?
744
Distinct author names in 90 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.
- 01Polak M6 papers · 2025
Pediatric Endocrinology, Gynecology and Diabetology Department, Assistance Publique Hôpitaux de Paris (APHP), Hôpital Universitaire Necker Enfants Malades, Paris, France.
Papers in Europe PMC - 02Murray JC5 papers · 2017
Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.
Papers in Europe PMC - 03
- 04Cornell RA3 papers · 2025
Department of Anatomy, University of Iowa, Iowa City, IA, USA.
Papers in Europe PMC - 05Hertecant J3 papers · 2020
Department of Paediatrics, Tawam Hospital, Al-Ain, UAE.
Papers in Europe PMC - 06Jugessur A3 papers · 2012
Department of Paediatrics, University of Iowa, Iowa City, IA 52242, USA.
Papers in Europe PMC - 07Li X3 papers · 2018
Data Analytics Department, Institute for Infocomm Research (I2R), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
Papers in Europe PMC - 08Marazita ML3 papers · 2017
Department of Oral Biology, School of Dental Medicine, Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, 15219, USA. marazita@pitt.edu.
Papers in Europe PMC - 09Merla G3 papers · 2023
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Papers in Europe PMC - 10Metz JR3 papers · 2025
Department of Animal Ecology and Physiology, Radboud Institute for Biological and Environmental Sciences (RIBES), Radboud University, Nijmegen, Netherlands.
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.
"Bamforth-Lazarus syndrome" OR "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" OR "Bamforth syndrome" OR "Hypothyroidism-cleft palate syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bamforth-Lazarus syndrome" OR "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" OR "Bamforth syndrome" OR "Hypothyroidism-cleft palate syndrome" OR "FOXE1"
Recall-expansion terms: FOXE1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-26T16:45:53.510Z