Rare diseases · Sign or symptom
Craniosynostosis
HP:0001363
What it means
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth.
Rare diseases that can present with this95
Very common80–99%
17- 15q overgrowth syndrome
- Aniridia-renal agenesis-psychomotor retardation syndrome
- Apert syndrome
- Autosomal recessive malignant osteopetrosis
- Carpenter syndrome
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia-Poland anomaly syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Craniosynostosis, Philadelphia type
- Craniotelencephalic dysplasia
- Hartsfield syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Non-syndromic bilambdoid and sagittal craniosynostosis
- Osteoglosphonic dysplasia
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Saethre-Chotzen syndrome
- Seckel syndrome
Common30–79%
31- 3MC syndrome
- 7q11.23microduplication syndrome
- Acrocraniofacial dysostosis
- Antley-Bixler syndrome
- Arterial tortuosity syndrome
- Autosomal recessive hypophosphatemic rickets
- Branchioskeletogenital syndrome
- Cranioectodermal dysplasia
- Craniosynostosis, Herrmann-Opitz type
- Curry-Jones syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Distal duplication 5q syndrome
- Distal triplication 15q syndrome
- Ear-patella-short stature syndrome
- Hypomandibular faciocranial dysostosis
- Hypophosphatasia
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Loeys-Dietz syndrome
- Lowry-MacLean syndrome
- Mucolipidosis type II
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- Osteosclerosis-developmental delay-craniosynostosis syndrome
- Paternal uniparental disomy of chromosome 1 syndrome
- Say-Barber-Miller syndrome
- SCARF syndrome
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- Shprintzen-Goldberg syndrome
Sometimes5–29%
32- 16p13.11microduplication syndrome
- 19p13.12microdeletion syndrome
- 1p31p32microdeletion syndrome
- 3q29microduplication syndrome
- 8q22.1microdeletion syndrome
- 9q21.13microdeletion syndrome
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Alpha-mannosidosis, infantile form
and 24 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cranial suture synostosis · Craniostenosis · Craniosyostosis · Deformity of the skull · Early fusion of cranial sutures · Premature closure of cranial sutures · Premature suture closure
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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.