Rare diseases · Sign or symptom
Round face
Circular face
HP:0000311
What it means
The facial appearance is more circular than usual as viewed from the front.
Rare diseases that can present with this62
Very common80–99%
27- 2q37microdeletion syndrome
- 8q21.11microdeletion syndrome
- 9q33.3q34.11microdeletion syndrome
- Acromicric dysplasia
- Congenital heart defect-round face-developmental delay syndrome
- Distal deletion 1q syndrome
- Distal duplication 18q syndrome
- Familial partial lipodystrophy, Dunnigan type
- Fibrochondrogenesis
- Fountain syndrome
- Grubben-de Cock-Borghgraef syndrome
- Hernández-Aguirre Negrete syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Jung syndrome
- Kniest dysplasia
- MEHMO syndrome
- Monosomy 5p syndrome
- Perlman syndrome
- Peters plus syndrome
- Progressive non-infectious anterior vertebral fusion
- Pseudohypoparathyroidism type 1A
- Ring chromosome 1 syndrome
- Thoracomelic dysplasia
- Trisomy 20p syndrome
- Trisomy 4p syndrome
- Trisomy 5p syndrome
Common30–79%
19- 8p inverted duplication/deletion syndrome
- Alagille syndrome
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Barth syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- Geleophysic dysplasia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Hypertrichosis cubiti
- Microcornea-glaucoma-absent frontal sinuses syndrome
- Proteus syndrome
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Pseudopseudohypoparathyroidism
- SPECC1L-related hypertelorism syndrome
- Tetrasomy 21 syndrome
- Weaver syndrome
- Wiedemann-Steiner syndrome
Sometimes5–29%
15- 21q22.11q22.12microdeletion syndrome
- Aarskog-Scott syndrome
- Alström syndrome
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Familial visceral myopathy
- Growth delay-intellectual disability-hepatopathy syndrome
- Hyperphosphatasia-intellectual disability syndrome
and 7 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Round facial appearance · Round facial shape · Round facies · Round, full face
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.