Rare diseases · Sign or symptom
Full cheeks
Apple cheeks
HP:0000293
What it means
Increased prominence or roundness of soft tissues between zygomata and mandible.
Rare diseases that can present with this91
Very common80–99%
26- 8q21.11microdeletion syndrome
- 9q33.3q34.11microdeletion syndrome
- Acromegaly
- Arthrogryposis multiplex congenita-whistling face syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Cardiofaciocutaneous syndrome
- Cherubism
- Crisponi syndrome
- Distal monosomy 7q36 syndrome
- Dysmorphism-pectus carinatum-joint laxity syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Hurler syndrome
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Kagami-Ogata syndrome
- Mandibuloacral dysplasia
- Otofaciocervical syndrome
- PEHO syndrome
- Pitt-Hopkins syndrome
- Ramon syndrome
- Schwartz-Jampel syndrome
- Somatomammotropinoma
- Tetrasomy 5p syndrome
- Trisomy 12p syndrome
- Trisomy 20p syndrome
Common30–79%
42- 10q22.3q23.3microduplication syndrome
- 1p21.3microdeletion syndrome
- 20q11.2microduplication syndrome
- 4q21microdeletion syndrome
- 6q16microdeletion syndrome
- 8q24.3microdeletion syndrome
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Auriculocondylar syndrome
- Autosomal recessive Kenny-Caffey syndrome
- Barth syndrome
- Bohring-Opitz syndrome
- Congenital infiltrating lipomatosis of the face
- Costello syndrome
- Diastrophic dysplasia
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Fountain syndrome
- Frontometaphyseal dysplasia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Hajdu-Cheney syndrome
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- Lathosterolosis
- Meckel syndrome
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- MEHMO syndrome
- Melnick-Needles syndrome
- Menkes disease
- Microcephalic osteodysplastic primordial dwarfism type II
- Mucolipidosis type III alpha/beta
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 2
- MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Oculocerebrorenal syndrome of Lowe
- Otodental syndrome
- Phelan-McDermid syndrome
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1B
- Pseudohypoparathyroidism type 1C
- Ring chromosome 22 syndrome
- Sandhoff disease
- Tetraamelia-multiple malformations syndrome
- Toriello-Carey syndrome
Sometimes5–29%
12- 16p12.1p12.3triplication syndrome
- 20p12.3microdeletion syndrome
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form
- 8p23.1microdeletion syndrome
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Cleft palate-lateral synechia syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- DPM1-CDG
and 4 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: Big cheeks · Chubby cheeks · Hyperplasia of cheeks · Hypertrophy of cheeks · Increased size of cheeks · Large cheeks · Puffy cheeks
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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.