ORPHA:166024

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

high confidenceDisorder

Also known as: Multiple epiphyseal dysplasia, Al-Gazali type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

8th percentile

Trials

Interventional, condition-specific

Researchers

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary bone characterized by the association of multiple epiphyseal with macrocephaly and facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

multiple epiphyseal dysplasia-macrocephaly-distinctive facies 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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

Gene identifiedNot found
No GenCC disease–gene assertion in this build
LiteraturePresent
1 matched papers (1 in last 10 years) Source
Phenotype characterisedPresent
50 HPO annotations (e.g. Triangular mouth; Intellectual disability; Multiple epiphyseal dysplasia) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Associated phenotypes · MONDO:0011778

Triangular mouth
Intellectual disability
Multiple epiphyseal dysplasia
Delayed epiphyseal ossification
Enlarged joints

Showing 5 of 50 — 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 paper 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.

1 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).

1 in the last 10 years · high confidence · 8th percentile (publications denominator)

Phrase hits: 1 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

Distinct author names in 1 sampled paper — 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.

01
Saxena R2 papers · 2020
Institute of Medical Genetics and Genomics, New Delhi, India.
Papers in Europe PMC
02
Arora V1 paper · 2020
Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address: Veronicaarora@gmail.com.
Papers in Europe PMC
03
Carvalho DR1 paper · 2020
Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals, Brasilia-DF, Brazil.
Papers in Europe PMC
04
Diaz J1 paper · 2020
Rare Disease Institute, Children's National Health System, Washington DC, USA.
Papers in Europe PMC
05
Ferreira C1 paper · 2020
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.
Papers in Europe PMC
06
Hove HB1 paper · 2020
Center for Rare Diseases, Dept. of Pediatrics, Copenhagen University Hospital, at Rigshospitalet, Denmark.
Papers in Europe PMC
07
Kurosawa K1 paper · 2020
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Papers in Europe PMC
08
Leon E1 paper · 2020
Rare Disease Institute, Children's National Health System, Washington DC, USA.
Papers in Europe PMC
09
Nishimura G1 paper · 2020
Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Japan.
Papers in Europe PMC
10
Nishimura N1 paper · 2020
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

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.

Broader category multiple epiphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: multiple epiphyseal dysplasia

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome" OR "Multiple epiphyseal dysplasia, Al-Gazali type" OR "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome" OR "Multiple epiphyseal dysplasia, Al-Gazali type" OR "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" OR "Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"multiple epiphyseal dysplasia"

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 2026-07-27T08:18:11.730Z