Rare diseases · Sign or symptom
Large fontanelles
Wide fontanelles
HP:0000239
What it means
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel).
Rare diseases that can present with this49
Very common80–99%
24- Acromelic frontonasal dysplasia
- Athyreosis
- Baller-Gerold syndrome
- Cleidocranial dysplasia
- Craniolenticulosutural dysplasia
- Cranio-osteoarthropathy
- Dysplastic cortical hyperostosis, Al-Gazali type
- Grant syndrome
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Hypophosphatasia
- Lenz-Majewski hyperostotic dysplasia
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mevalonic aciduria
- Microbrachycephaly-ptosis-cleft lip syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Occipital horn syndrome
- Opsismodysplasia
- Osteosclerotic bone dysplasia
- Otopalatodigital syndrome type 2
- Thyroid ectopia
- Thyroid hemiagenesis
- Thyroid hypoplasia
- Ulna hypoplasia-intellectual disability syndrome
Common30–79%
14- Apert syndrome
- Arthrochalasia Ehlers-Danlos syndrome
- Aymé-Gripp syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Cerebrofacioarticular syndrome
- Cloverleaf skull-multiple congenital anomalies syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Deletion 5q35 syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Isolated sedoheptulokinase deficiency
- Mosaic trisomy 9 syndrome
- Osteogenesis imperfecta
- Osteopathia striata-cranial sclerosis syndrome
Sometimes5–29%
11- 17q12microdeletion syndrome
- 3q29microduplication syndrome
- 4q21microdeletion syndrome
- Beckwith-Wiedemann syndrome
- Opitz GBBB syndrome
- Ossification anomalies-psychomotor developmental delay syndrome
- Severe congenital nemaline myopathy
- Severe X-linked intellectual disability, Gustavson type
and 3 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: Enlarged fontanelles · Large bregma sutures · Large fontanel · Large fontanelle · Large fontanels · Large, late-closing fontanelle · Persistent wide fontanel · Wide bregma sutures
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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.