acromegaloid facial appearance syndrome
Findings
No curated finding names acromegaloid facial appearance syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.
Definition from the Mondo Disease Ontology (MONDO:0007051), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bulbous noseHPOHP:0000414
- 5 of 5 reported patients
- Deep philtrumHPOHP:0002002
- 5 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- 5 of 5 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 5 reported patients
- Short 5th metacarpalHPOHP:0010047
- 3 of 3 reported patients
- Sloping foreheadHPOHP:0000340