Rare diseases · Sign or symptom
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
HP:0010669
What it means
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
Rare diseases that can present with this34
Very common80–99%
19- Ablepharon macrostomia syndrome
- Acrofacial dysostosis, Catania type
- Antley-Bixler syndrome
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Cleidocranial dysplasia
- Cohen syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Flat face-microstomia-ear anomaly syndrome
- Hypoglossia-hypodactyly syndrome
- Intellectual disability-short stature-hypertelorism syndrome
- Marshall syndrome
- Nager syndrome
- Pfeiffer syndrome
- Treacher-Collins syndrome
- X-linked mandibulofacial dysostosis
Common30–79%
6Sometimes5–29%
9- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- CHARGE syndrome
- Distal 17p13.1 microdeletion syndrome
- Hajdu-Cheney syndrome
- Holoprosencephaly
- Orofaciodigital syndrome type 1
- Pancreatic agenesis-holoprosencephaly syndrome
- Pectus excavatum-macrocephaly-dysplastic nails syndrome
and 1 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: Decreased size of cheekbone · Decreased size of zygomatic bone · Depressed cheekbone · Depressed zygomatic bone · Flattening of the zygomatic bone · Hypoplasia of cheekbone · Hypotrophic cheekbone · Hypotrophic zygomatic bone
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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.