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ORPHA:498497

Short rib-polydactyly syndrome type 5

medium confidenceDisorder

Publications

495

78.8th percentile

Trials

0

Interventional, condition-specific

Researchers

155

Distinct authors in sample

Gene link

WDR35

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.

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 (5)

SRPS5 · SRTD7 · short rib-polydactyly syndrome type 5 · short rib-polydactyly syndrome, type 5 · short-rib thoracic dysplasia 7 with or without polydactyly

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — WDR35

  2. LiteraturePresent

    495 matched papers (350 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Mesomelia; Renal cyst; Dolichocephaly) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  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 (WDR35).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0013569

  • Mesomelia
  • Renal cyst
  • Dolichocephaly
  • Epicanthus
  • Micromelia

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

495

495 papers have ever been published on this condition (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.

495 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).

350 in the last 10 years · medium confidence · 78.8th percentile (publications denominator)

Phrase hits: 29 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

155

Distinct author names in 29 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
    Krainer AR3 papers · 1995
    Papers in Europe PMC
  2. 02
    Mayeda A3 papers · 1995

    Cold Spring Harbor Laboratory, NY 11724-2208.

    Papers in Europe PMC
  3. 03
    Fu XD2 papers · 1996

    Department of Biochemistry and Molecular Biology, Harvard University, Cambridge 02138.

    Papers in Europe PMC
  4. 04
    Katoh Y2 papers · 2018

    Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan.

    Papers in Europe PMC
  5. 05
    Mill P2 papers · 2023

    MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.

    Papers in Europe PMC
  6. 06
    Nakayama K2 papers · 2018

    Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan kazunaka@pharm.kyoto-u.ac.jp.

    Papers in Europe PMC
  7. 07
    Roth MB2 papers · 1995
    Papers in Europe PMC
  8. 08
    Wang J2 papers · 2024

    Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China.

    Papers in Europe PMC
  9. 09
    Zahler AM2 papers · 1995

    Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98104, USA.

    Papers in Europe PMC
  10. 10
    Aglan M1 paper · 2015

    Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.

    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.

medium 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 short rib-polydactyly syndrome 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: short rib-polydactyly syndrome

0

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 Short rib-polydactyly syndrome type 5 — 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 rib-polydactyly syndrome type 5" OR "SRPS5" OR "SRTD7" OR "short rib-polydactyly syndrome, type 5" OR "short-rib thoracic dysplasia 7 with or without polydactyly") OR ("WDR35" OR "WDR35 syndrome" OR "WDR35-related")

Run this search on Europe PMC

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

"Short rib-polydactyly syndrome type 5" OR "SRPS5" OR "SRTD7" OR "short rib-polydactyly syndrome, type 5" OR "short-rib thoracic dysplasia 7 with or without polydactyly"

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

Parent-category trials query:

"short rib-polydactyly syndrome"

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 (495) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T17:39:18.513Z