Rare diseases · Sign or symptom
Abnormal skull morphology
Abnormality of the skull
HP:0000929
What it means
An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
Rare diseases that can present with this39
Very common80–99%
16- 6p22microdeletion syndrome
- Acalvaria
- Camurati-Engelmann disease
- Carpenter syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Cranio-osteoarthropathy
- Crouzon syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Fibrous dysplasia of bone
- Hajdu-Cheney syndrome
- Juvenile hyaline fibromatosis
- Lethal hemolytic anemia-genital anomalies syndrome
- Microcornea-glaucoma-absent frontal sinuses syndrome
- Multifocal infantile hemangioma with extracutenous involvement
- Occipital horn syndrome
- Saethre-Chotzen syndrome
Common30–79%
13- 22q11.2deletion syndrome
- Beta-thalassemia
- Camptodactyly syndrome, Guadalajara type 3
- Distal triplication 15q syndrome
- Encephalocraniocutaneous lipomatosis
- Gorlin-Chaudhry-Moss syndrome
- Hemimegalencephaly
- Hereditary acrokeratotic poikiloderma
- Infantile myofibromatosis
- Isolated exencephaly
- Jung syndrome
- Orofaciodigital syndrome type 1
- X-linked dominant chondrodysplasia punctata
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: Abnormality of the skull bones
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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.