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ORPHA:281

Monosomy 5p syndrome

low confidenceDisorder

Also known as: Cri du chat syndrome · Deletion 5p

Publications

1,725

Trials

1

Interventional, condition-specific

Researchers

1,221

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of , , microcephaly, and facial dysmorphism.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

5p deletion syndrome · 5p partial monosomy syndrome · Cat-Cry syndrome · Cri du Chat Syndrome · Cri-du-chat syndrome · chromosome 5p deletion syndrome · deletion 5p · monosomy type 5p

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,725 matched papers (603 in last 10 years) Source

  3. Phenotype characterisedPresent

    96 HPO annotations (e.g. Pes planus; Downslanted palpebral fissures; Orofacial cleft) 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 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?

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

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

Phenotypes (Monarch / HPO)

96

Associated phenotypes · MONDO:0007404

  • Pes planus
  • Downslanted palpebral fissures
  • Orofacial cleft
  • Hypospadias
  • Inguinal hernia

Showing 5 of 96 — 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)

1 associated chemical · 10 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • aminoacetone · marker/mechanism

Pathways: HTLV-I infection; Telomere Maintenance; Signal Transduction; Cell Cycle; Telomere Extension By Telomerase; Extension of Telomeres; Signaling by Wnt; TCF dependent signaling in response to WNT

MyDisease.info · MONDO:0007404

Literature

Is anyone studying this?

1,725

1,725 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.

1,725 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).

603 in the last 10 years · low confidence

Phrase hits: 1,725 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,221

Distinct author names in 200 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.

  1. 01
    Guala A9 papers · 2026

    SOC Pediatria, Ospedale Castelli, Verbania, Italy.

    Papers in Europe PMC
  2. 02
    Danesino C8 papers · 2026

    Department of Molecular Medicine, IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  3. 03
    Cistaro A5 papers · 2026

    Nuclear Medicine Department, Ente Ospedaliero Ospedali Galliera, Genoa, Italy angelinacistaro06@gmail.com.

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

    Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, 127 West ChangLe Road, Xi'an, 710032, Shaanxi, China.

    Papers in Europe PMC
  5. 05
    Wang L5 papers · 2026

    Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.

    Papers in Europe PMC
  6. 06
    Albani G4 papers · 2023

    Divisione di Neurologia e Neuro-Riabilitazione, IRCCS Istituto Auxologico Italiano, Ospedale San Giuseppe, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Li X4 papers · 2025

    Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.

    Papers in Europe PMC
  8. 08
    Wang Y4 papers · 2025

    Department of rehabilitation, Anhui Provincial Children's Hospital, No.39, Wangjiang Road, Baohe District, Hefei, 230051, China.

    Papers in Europe PMC
  9. 09
    Chehimi SN3 papers · 2024

    Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.

    Papers in Europe PMC
  10. 10
    Chen CP3 papers · 2024

    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.

    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 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

Observational and natural-history studies

2 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Monosomy 5p 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.

"Monosomy 5p syndrome" OR "Cri du chat syndrome" OR "Deletion 5p" OR "5p deletion syndrome" OR "5p partial monosomy syndrome" OR "Cat-Cry syndrome" OR "Cri-du-chat syndrome" OR "chromosome 5p deletion syndrome" OR "monosomy type 5p"

Run this search on Europe PMC

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

"Monosomy 5p syndrome" OR "Cri du chat syndrome" OR "Deletion 5p" OR "5p deletion syndrome" OR "5p partial monosomy syndrome" OR "Cat-Cry syndrome" OR "Cri-du-chat syndrome" OR "chromosome 5p deletion syndrome" OR "monosomy type 5p"

Interventional trials matched via: phrase (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 · 2 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 (1725) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:12:12.426Z