Rare diseases · Sign or symptom
Large face
Big face
HP:0100729
Rare diseases that can present with this14
Very common80–99%
11- Alexander disease
- Aspartylglucosaminuria
- Cartilage-hair hypoplasia
- Cerebrooculonasal syndrome
- Crisponi syndrome
- Distal monosomy 7q36 syndrome
- Hurler syndrome
- Recombinant 8 syndrome
- Rhizomelic dysplasia, Patterson-Lowry type
- Short stature-valvular heart disease-characteristic facies syndrome
- Smith-Magenis syndrome
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: Large facies
Large face
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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.