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).
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 13
| HPO ID |
Term |
Frequency |
| HP:0000232 |
Everted lower lip vermilion |
Very frequent (99-80%) |
| HP:0000280 |
Coarse facial features |
Very frequent (99-80%) |
| HP:0000414 |
Bulbous nose |
Very frequent (99-80%) |
| HP:0001155 |
Abnormality of the hand |
Very frequent (99-80%) |
| HP:0002230 |
Generalized hirsutism |
Very frequent (99-80%) |
| HP:0005692 |
Joint hyperflexibility |
Very frequent (99-80%) |
| HP:0012471 |
Thick vermilion border |
Very frequent (99-80%) |
| HP:0100540 |
Palpebral edema |
Very frequent (99-80%) |
| HP:0000212 |
Gingival overgrowth |
Frequent (79-30%) |
| HP:0000221 |
Furrowed tongue |
Frequent (79-30%) |
| HP:0000581 |
Blepharophimosis |
Frequent (79-30%) |
| HP:0001249 |
Intellectual disability |
Occasional (29-5%) |
| HP:0010285 |
Oral synechia |
Occasional (29-5%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 1
| Gene Symbol |
Gene Name |
Entrez Gene ID |
| ABCC9 |
ATP binding cassette subfamily C member 9 |
10060 |
