ORPHA:88630
Terminal osseous dysplasia-pigmentary defects syndrome
Query health: suspect — Only one of 2 strategies returned hits (mesh).
Publications
6,516
Trials
0
Interventional, condition-specific
Researchers
19
Distinct authors in sample
Gene link
FLNA
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare acromelic characterized by abnormal and/or delayed ossification of bones primarily in the hands and feet (that may lead to brachydactyly, camptodactyly, and clinodactyly), severe limb deformities, joint contractures, pigmentary skin lesions on the face and scalp and digital fibromatosis of the fingers and toes which appear a few months after birth. While the skeletal manifestations primarily affect the hands and feet, more generalized bone involvement including mesomelic bowing and/or shortening of the arms and legs have also been reported. Some patients may also present with craniofacial dysmorphism including midface hypoplasia, hypertelorism, ptosis, coloboma of the iris and eyelids, low-set ears, depressed nasal bridge, and multiple hypertrophic frenula. Additional clinical features may include short stature, short broad thorax, scoliosis, atrial septal defect and ventricular septal hypertrophy, pulmonary artery stenosis and anal stenosis.
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:0010279
- MeSH:C564554
- OMIM:300244
- UMLS:C1846129
Additional Mondo synonyms (1)
terminal osseous dysplasia, X-linked dominant
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
Definitive — FLNA
- LiteraturePresent
6,516 matched papers (4,830 in last 10 years) Source
- Phenotype characterisedPresent
52 HPO annotations (e.g. Hyperpigmented papule; Accessory oral frenulum; Alopecia) 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 (FLNA).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
52
Associated phenotypes · MONDO:0010279
- Hyperpigmented papule
- Accessory oral frenulum
- Alopecia
- Depressed nasal tip
- Hypoplasia of teeth
Showing 5 of 52 — 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?
6,516
6,516 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
6,516 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).
4,830 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 2
Who's working on it?
19
Distinct author names in 2 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.
- 01
- 02Arevalo MK1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Papers in Europe PMC - 03Baker LA1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA. linda.baker@childrens.com.
Papers in Europe PMC - 04Chen C1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Papers in Europe PMC - 05Choi ES1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Papers in Europe PMC - 06Edwards AB1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Papers in Europe PMC - 07
- 08Harrison SM1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Papers in Europe PMC - 09Iqbal NS1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA. Nida.Iqbal3@gmail.com.
Papers in Europe PMC - 10Jascur TA1 paper · 2020
Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
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 Terminal osseous dysplasia-pigmentary defects 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.
("Terminal osseous dysplasia-pigmentary defects syndrome" OR "terminal osseous dysplasia, X-linked dominant") OR (MESH:"Terminal Osseous Dysplasia and Pigmentary Defects") OR ("FLNA" OR "FLNA syndrome" OR "FLNA-related")MeSH descriptor terms unioned into the query: Terminal Osseous Dysplasia and Pigmentary Defects
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Terminal osseous dysplasia-pigmentary defects syndrome" OR "terminal osseous dysplasia, X-linked dominant" OR "Terminal Osseous Dysplasia and Pigmentary Defects"
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: 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 (6516) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:23:14.752Z