ORPHA:88630
Terminal osseous dysplasia-pigmentary defects syndrome
Publications
2
12.1th percentile
Trials
1
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — FLNA
- LiteraturePresent
2 matched papers (2 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
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?
2
2 papers 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=5449) is 41.
2 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).
2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)
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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07592637·NOT YET RECRUITING·Lung Disease and FLNA Mutations
Conditions: Emphysema·Matched via recall expansion
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07448753·ENROLLING BY INVITATION·ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Intestinal Pseudo-Obstruction (CIPO) With Reduced/Absent Distal Esophageal Contractility
Conditions: Pseudo Obstruction·Matched via recall expansion
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.
"Terminal osseous dysplasia-pigmentary defects syndrome" OR "terminal osseous dysplasia, X-linked dominant"
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" OR "FLNA"
Recall-expansion terms: FLNA
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: mesh, recall-expansion
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 2026-07-27T03:23:14.752Z