Hypertrichosis-acromegaloid facial appearance syndrome
Name: |
Hypertrichosis-acromegaloid facial appearance syndrome
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Description: |
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, Cantù type (see these terms).
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ORPHAcode: |
966
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Synonyms: |
HAFF
Hypertrichosis-acromegaloid facial features syndrome
Hypertrichosis-coarse face syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
01 Aug 2021 - 06:46
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