Rare diseases · Sign or symptom
Wide anterior fontanel
Wider-than-typical soft spot of skull
HP:0000260
What it means
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Rare diseases that can present with this30
Very common80–99%
8- Craniometadiaphyseal dysplasia, wormian bone type
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Donnai-Barrow syndrome
- Fibrochondrogenesis
- Progeroid syndrome, Petty type
- Rhizomelic syndrome, Urbach type
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Zellweger syndrome
Common30–79%
11- 20p13microdeletion syndrome
- Autosomal recessive cutis laxa type 2A
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
- Dubowitz syndrome
- Lethal Kniest-like dysplasia
- MEND syndrome
- Neonatal adrenoleukodystrophy
- Schinzel-Giedion syndrome
- SIX2-related frontonasal dysplasia
- Thanatophoric dysplasia type 1
- Toriello-Carey 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 anterior fontanel · Large anterior fontanelle · Large anterior fontanels · Large open anterior fontanel · Large open anterior fontanelle · Wide anterior fontanelle · Wide open anterior fontanelle
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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.