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ORPHA:3095

Atypical Rett syndrome

high confidenceDisorder

Also known as: Atypical RTT · Rett syndrome variant

Publications

1,814

88.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,375

Distinct authors in sample

Gene link

PDLIM7

Limited

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

atypical RTT

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

    Limited — PDLIM7

  2. LiteraturePresent

    1,814 matched papers (1,196 in last 10 years) Source

  3. Phenotype characterisedPresent

    234 HPO annotations (e.g. Progressive microcephaly; Strabismus; Motor stereotypy) Source

  4. Animal modelPresent

    2 genotype models (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?

Possibly — only limited evidence so far for PDLIM7.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

234

Associated phenotypes · MONDO:0017746

  • Progressive microcephaly
  • Strabismus
  • Motor stereotypy
  • Motor delay
  • Visual impairment

Showing 5 of 234 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

1,814

1,814 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.

1,814 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).

1,196 in the last 10 years · high confidence · 88.2th percentile (publications denominator)

Phrase hits: 939 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,375

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
    Neul JL16 papers · 2025

    Department of Pediatrics, Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

    Papers in Europe PMC
  2. 02
    Benke TA15 papers · 2026

    Department of Pediatrics and Neurology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, USA.

    Papers in Europe PMC
  3. 03
    Percy AK15 papers · 2025

    Civitan International Research Center, University of Alabama at Birmingham, Alabama. Electronic address: apercy@uab.edu.

    Papers in Europe PMC
  4. 04
    Marsh ED13 papers · 2026

    Division of Neurology, Children's Hospital of Philadelphia, School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC
  5. 05
    Downs J11 papers · 2026

    The Kids Research Institute Australia, The Centre for Child Health Research, University of Western Australia, Perth, WA, Australia.

    Papers in Europe PMC
  6. 06
    Leonard H9 papers · 2026

    The Kids Research Institute Australia, University of Western Australia, Perth, WA, Australia.

    Papers in Europe PMC
  7. 07
    Christodoulou J7 papers · 2026

    Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address: john.christodoulou@mcri.edu.au.

    Papers in Europe PMC
  8. 08
    Skinner SA7 papers · 2024

    Greenwood Genetic Center, Greenwood, South Carolina.

    Papers in Europe PMC
  9. 09
    Fu C6 papers · 2025

    Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.

    Papers in Europe PMC
  10. 10
    Glaze DG5 papers · 2023

    Department of Pediatrics, Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

    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.

high 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 2026-07-29

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 Atypical Rett 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.

("Atypical Rett syndrome" OR "Atypical RTT" OR "Rett syndrome variant") OR ("PDLIM7" OR "PDLIM7 syndrome" OR "PDLIM7-related")

Run this search on Europe PMC

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

"Atypical Rett syndrome" OR "Atypical RTT" OR "Rett syndrome variant"

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

Ingested 2026-07-26T22:12:29.854Z