ORPHA:2396
Encephalocraniocutaneous lipomatosis
Also known as: Haberland syndrome
Publications
351
65.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,132
Distinct authors in sample
Gene link
FGFR1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to , spasticity, and . Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been 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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013074
- MeSH:C535736
- OMIM:613001
- UMLS:C0406612
- NCIT:C4701
Additional Mondo synonyms (4)
ECCL · Fishman syndrome · encephalocraniocutaneous lipomatosis · encephalocraniocutaneous lipomatosis, somatic mosaic
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — FGFR1
- LiteraturePresent
351 matched papers (171 in last 10 years) Source
- Phenotype characterisedPresent
84 HPO annotations (e.g. Hypertonia; Ventriculomegaly; Cerebral cortical atrophy) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 4 for broader category lipomatosis
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 (FGFR1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
84
Associated phenotypes · MONDO:0013074
- Hypertonia
- Ventriculomegaly
- Cerebral cortical atrophy
- Abnormal speech pattern
- Aphasia
Showing 5 of 84 — 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?
351
351 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.
351 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).
171 in the last 10 years · medium confidence · 65.5th percentile (publications denominator)
Phrase hits: 351 · MeSH hits: 0
Who's working on it?
1,132
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.
- 01Garg A4 papers · 2025
Department of Radiology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.
Papers in Europe PMC - 02Moog U4 papers · 2020
Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany. ute.moog@med.uni-heidelberg.de
Papers in Europe PMC - 03Boycott KM3 papers · 2022
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.
Papers in Europe PMC - 04Brassesco MS3 papers · 2018
Division of Pediatric Oncology, Department of Pediatrics, University of São Paulo, São Paulo, Brazil. marsol@rge.fmrp.usp.br
Papers in Europe PMC - 05Brems H3 papers · 2024
Department of Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 06Kumar A3 papers · 2024
Department of Radio-Diagnosis, JPNA Trauma Centre, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 07Machado HR3 papers · 2018
Division of Pediatric Neurosurgery, Department of Surgery and Anatomy, University Hospital, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Papers in Europe PMC - 08Nischal KK3 papers · 2026
UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Papers in Europe PMC - 09Park SH3 papers · 2018
Department of Dermatology, Busan Paik Hospital, College of Medicine, Inje University, Busan, Korea.
Papers in Europe PMC - 10Praticò AD3 papers · 2021
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
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). 4 trials are registered for lipomatosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
4 interventional trials matched lipomatosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: lipomatosis
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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 2026-07-29
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 Encephalocraniocutaneous lipomatosis — check Associations / patient organisations on that page.
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.
"Encephalocraniocutaneous lipomatosis" OR "Haberland syndrome" OR "Fishman syndrome" OR "encephalocraniocutaneous lipomatosis, somatic mosaic"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Encephalocraniocutaneous lipomatosis" OR "Haberland syndrome" OR "Fishman syndrome" OR "encephalocraniocutaneous lipomatosis, somatic mosaic"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"lipomatosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ECCL
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:04:42.730Z