ORPHA:166108
Birk-Barel syndrome
Also known as: Birk-Barel Intellectual Disability-Dimorphism syndrome · Intellectual disability-hypotonia-facial dysmorphism syndrome · KCNK9 imprinting syndrome
Publications
1,072
Trials
0
Interventional, condition-specific
Researchers
852
Distinct authors in sample
Gene link
KCNK9
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
, Birk-Barel type is a rare, genetic, syndromic characterized by central , , moderate to severe and subtle features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient , severe feeding difficulties and . Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.
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:0012856
- MeSH:C567357
- OMIM:612292
- UMLS:C2676770
Additional Mondo synonyms (4)
BIRK-Barel intellectual disability dysmorphism syndrome · BIRK-Barel mental retardation dysmorphism syndrome · KCNK9 Imprinting Syndrome · intellectual disability-hypotonia-facial dysmorphism 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 — KCNK9
- LiteraturePresent
1,072 matched papers (648 in last 10 years) Source
- Phenotype characterisedPresent
51 HPO annotations (e.g. Dolichocephaly; Hypomimic face; Protruding ear) 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 (KCNK9).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
51
Associated phenotypes · MONDO:0012856
- Dolichocephaly
- Hypomimic face
- Protruding ear
- Dysphonia
- Incisor macrodontia
Showing 5 of 51 — 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?
1,072
1,072 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,072 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).
648 in the last 10 years · low confidence
Phrase hits: 109 · MeSH hits: 2
Who's working on it?
852
Distinct author names in 109 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.
- 01Veale EL9 papers · 2025
Medway School of Pharmacy, The Universities of Greenwich and Kent at Medway, Anson Building, Central Avenue, Chatham Maritime, Chatham, Kent, ME4 4TB, UK.
Papers in Europe PMC - 02Mathie A8 papers · 2022
Medway School of Pharmacy, The Universities of Greenwich and Kent at Medway, Anson Building, Central Avenue, Chatham Maritime, Chatham, Kent, ME4 4TB, UK.
Papers in Europe PMC - 03Tucker SJ6 papers · 2026
Clarendon Laboratory, Department of Physics, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 04Baukrowitz T5 papers · 2026
Institute of Physiology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Papers in Europe PMC - 05Proks P5 papers · 2026
Kavli Institute for Nanoscience Discovery, University of Oxford, Oxford, UK.
Papers in Europe PMC - 06Schewe M5 papers · 2026
Institute of Physiology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Papers in Europe PMC - 07Bates EA4 papers · 2024
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, United States.
Papers in Europe PMC - 08Eggermann T4 papers · 2025
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52062 Aachen, Germany.
Papers in Europe PMC - 09Graham JM Jr4 papers · 2022
Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Papers in Europe PMC - 10Li J4 papers · 2024
Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, 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.
low 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 Birk-Barel 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.
("Birk-Barel syndrome" OR "Birk-Barel Intellectual Disability-Dimorphism syndrome" OR "Intellectual disability-hypotonia-facial dysmorphism syndrome" OR "KCNK9 imprinting syndrome" OR "BIRK-Barel intellectual disability dysmorphism syndrome" OR "BIRK-Barel mental retardation dysmorphism syndrome") OR (MESH:"Birk-Barel Mental Retardation Dysmorphism Syndrome") OR ("KCNK9" OR "KCNK9 syndrome" OR "KCNK9-related")MeSH descriptor terms unioned into the query: Birk-Barel Mental Retardation Dysmorphism Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Birk-Barel syndrome" OR "Birk-Barel Intellectual Disability-Dimorphism syndrome" OR "Intellectual disability-hypotonia-facial dysmorphism syndrome" OR "KCNK9 imprinting syndrome" OR "BIRK-Barel intellectual disability dysmorphism syndrome" OR "BIRK-Barel mental retardation dysmorphism syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 (1072) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:21:27.124Z