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ORPHA:314394

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

low confidenceDisorder

Also known as: SOFT syndrome

Publications

2,744

Trials

0

Interventional, condition-specific

Researchers

1,071

Distinct authors in sample

Gene link

POC1A

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, primary bone disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

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)

soft 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.

  1. Gene identifiedPresent

    Strong — POC1A

  2. LiteraturePresent

    2,744 matched papers (1,841 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Sparse hair; Macrocephaly; Microcephaly) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (POC1A).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

47

Associated phenotypes · MONDO:0013894

  • Sparse hair
  • Macrocephaly
  • Microcephaly
  • Small for gestational age
  • Generalized hypotonia

Showing 5 of 47 — 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?

2,744

2,744 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.

2,744 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).

1,841 in the last 10 years · low confidence

Phrase hits: 2,489 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,071

Distinct author names in 200 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.

  1. 01
    Zhang X10 papers · 2026

    Department of General Dentistry, The Affiliated Stomatological Hospital of Nanjing Medical University, Nanjing, 210029, China.

    Papers in Europe PMC
  2. 02
    Li X7 papers · 2026

    College of Food Science, Southwest University, Chongqing, China.

    Papers in Europe PMC
  3. 03
    Zhang H6 papers · 2026

    School of Food and Biological Engineering, Jiangsu University, 301 Xuefu Road, Zhenjiang 212013, China. Electronic address: zhanghongyin126@126.com.

    Papers in Europe PMC
  4. 04
    Li J5 papers · 2025

    From the The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology.

    Papers in Europe PMC
  5. 05
    Liu D5 papers · 2025

    School of Pharmacy, Hubei University of Chinese Medicine, Wuhan, 430065, China; Hubei Shizhen Laboratory, Hubei University of Chinese Medicine, Wuhan, 430065, China. Electronic address: liudahui@hbucm.edu.cn.

    Papers in Europe PMC
  6. 06
    Luo M5 papers · 2025

    School of Pharmacy, Hubei University of Chinese Medicine, Wuhan, 430065, China; Hubei Shizhen Laboratory, Hubei University of Chinese Medicine, Wuhan, 430065, China. Electronic address: lm19930312@163.com.

    Papers in Europe PMC
  7. 07
    Miao Y5 papers · 2025

    School of Pharmacy, Hubei University of Chinese Medicine, Wuhan, 430065, China; Hubei Shizhen Laboratory, Hubei University of Chinese Medicine, Wuhan, 430065, China. Electronic address: miaoyh@hbucm.edu.cn.

    Papers in Europe PMC
  8. 08
    Zhang J5 papers · 2026

    Department of Orthopedics, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, China.

    Papers in Europe PMC
  9. 09
    Zhao L5 papers · 2026

    School of Food and Biological Engineering, Jiangsu University, 301 Xuefu Road, Zhenjiang 212013, China.

    Papers in Europe PMC
  10. 10
    Li L4 papers · 2026

    Medical imaging department, Laizhou City People's Hospital, Laizhou, Shandong Province, 261400, People's Republic of 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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).

Uncertain / not reviewed (40)

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 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis 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.

("Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" OR "SOFT syndrome") OR ("POC1A" OR "POC1A syndrome" OR "POC1A-related")

Run this search on Europe PMC

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

"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome" OR "SOFT syndrome"

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

Query health: ok — strategies attempted: phrase; 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
  • Publication count (2744) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:06:07.431Z