Rare diseases · Sign or symptom
Square face
Square facial shape
HP:0000321
What it means
Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
Rare diseases that can present with this6
Common30–79%
6- 8q24.3microdeletion syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Smith-Magenis syndrome
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- X-linked intellectual disability, Wilson type
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: Square facies
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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.