ORPHA:2891
Pili torti-developmental delay-neurological abnormalities syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
12
Distinct authors in sample
Gene link
HEPHL1
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Pili torti--neurological abnormalities syndrome is characterized by growth and , mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
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:0009871
- MeSH:C537398
- OMIM:261990
- UMLS:C1849811
Additional Mondo synonyms (1)
abnormal hair, joint laxity, and developmental delay
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.”
2/6 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.
- Gene identifiedPresent
Limited — HEPHL1
- LiteraturePresent
3 matched papers (3 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 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 HEPHL1.
GenCC classification: Limited.
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?
3
3 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.
3 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).
3 in the last 10 years · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
12
Distinct author names in 3 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.
- 01Alfadhel M1 paper · 2019
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), P.O Box 3660, Riyadh 11481, Saudi Arabia.
Papers in Europe PMC - 02Blicharz L1 paper · 2021
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
Papers in Europe PMC - 03Goldust M1 paper · 2021
Department of Dermatology, University Medical Center of the Johannes Gutenberg University, 55122 Mainz, Germany.
Papers in Europe PMC - 04Hoffmann A1 paper · 2021
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
Papers in Europe PMC - 05
- 06Olszewska M1 paper · 2021
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
Papers in Europe PMC - 07Rakowska A1 paper · 2021
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
Papers in Europe PMC - 08Rudnicka L1 paper · 2021
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
Papers in Europe PMC - 09Umair M1 paper · 2019
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), P.O Box 3660, Riyadh 11481, Saudi Arabia.
Papers in Europe PMC - 10Waśkiel-Burnat A1 paper · 2021
Department of Dermatology, Medical University of Warsaw, Koszykowa 82A, 02-008 Warsaw, Poland.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"Pili torti-developmental delay-neurological abnormalities syndrome" OR "abnormal hair, joint laxity, and developmental delay"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pili torti-developmental delay-neurological abnormalities syndrome" OR "abnormal hair, joint laxity, and developmental delay" OR "HEPHL1"
Recall-expansion terms: HEPHL1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T21:35:06.643Z