ORPHA:1023
Congenital generalized hypertrichosis, Ambras type
Also known as: Ambras syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
39
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
172
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.
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:0007787
- OMIM:145701
- UMLS:C1840362
Additional Mondo synonyms (1)
HTC1
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
39 matched papers (10 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 trialPartial
None under the specific name; 10 for broader category hypertrichosis
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)
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?
39
39 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=5449) is 41.
39 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).
10 in the last 10 years · medium confidence · 27.5th percentile (publications denominator)
Phrase hits: 39 · MeSH hits: 0
Who's working on it?
172
Distinct author names in 39 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.
- 01Christiano AM9 papers · 2014
Department of Genetics and Development, Columbia University, New York, New York, United States of America; Department of Dermatology, Columbia University, New York, New York, United States of America.
Papers in Europe PMC - 02Baumeister FA7 papers · 2008
Dr v Haunersches Children's Hospital, University of Munich, Germany.
Papers in Europe PMC - 03Levy B6 papers · 2014
Department of Pathology and Cell Biology, Columbia University, New York, New York, United States of America.
Papers in Europe PMC - 04Kurban M5 papers · 2014
Department of Dermatology, Columbia University, New York, New York, United States of America.
Papers in Europe PMC - 05Warburton D5 papers · 2014
Department of Genetics and Development, Columbia University, New York, New York, United States of America; Department of Pediatrics, Columbia University Medical Center, New York, New York, United States of America.
Papers in Europe PMC - 06Fantauzzo KA4 papers · 2014
Department of Dermatology, Columbia University, New York, New York, United States of America.
Papers in Europe PMC - 07Tadin-Strapps M4 papers · 2014
Department of Genetics and Development, Columbia University, New York, New York, United States of America.
Papers in Europe PMC - 08Cianfarani S3 papers · 2008Papers in Europe PMC
- 09DeStefano GM3 papers · 2014
Department of Genetics and Development, Columbia University, New York, New York, United States of America.
Papers in Europe PMC - 10Om A3 papers · 2018
Dr. Om is with the Division of Dermatology at Florida State University in Tallahassee, Florida.
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). 10 trials are registered for hypertrichosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
10 interventional trials matched hypertrichosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypertrichosis
10
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.
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.
"Congenital generalized hypertrichosis, Ambras type" OR "Ambras syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital generalized hypertrichosis, Ambras type" OR "Ambras syndrome" OR "hypertrichosis lanuginosa congenita"
Recall-expansion terms: hypertrichosis lanuginosa congenita
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypertrichosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HTC1
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 2026-07-26T16:13:44.882Z