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hypertrichosis-acromegaloid facial appearance syndrome (haff) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrichosis-acromegaloid facial appearance syndrome

MONDO:0019940

Also known as:haffhypertrichosis-acromegaloid facial features syndromehypertrichosis-coarse face syndrome

Overview

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.

Diagnosis

Biomarker and diagnostic research for hypertrichosis-acromegaloid facial appearance syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypertrichosis-acromegaloid facial appearance syndrome.

372 publications have been identified in PubMed for hypertrichosis-acromegaloid facial appearance syndrome. Kisho has analyzed 88 by research type. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (32%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	29	33%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:966

GARD

Genetic and Rare Diseases Info Center

GARD:502

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hypertrichosis-acromegaloid facial appearance syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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