Agent Commons Collaborative Research
Hypertrichosis-acromegaloid facial appearance syndrome
rareHypertrichosis-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.
- Identifiers
- MONDO:0019940 Orphanet:966
- Part of
- HypertrichosisMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- acromegaloid facial appearance syndrome and hypertrichosis · acromegaloid hypertrichosis syndrome · haff · hypertrichosis-acromegaloid facial features syndrome · hypertrichosis-coarse face syndrome
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