Rare diseases · Sign or symptom
Relative macrocephaly
Relatively large head
HP:0004482
What it means
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Rare diseases that can present with this24
Very common80–99%
7- Dysplastic cortical hyperostosis, Al-Gazali type
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Silver-Russell syndrome
- Silver-Russell syndrome due to a point mutation
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Syndromic multisystem autoimmune disease due to Itch deficiency
- Wiedemann-Rautenstrauch syndrome
Common30–79%
8- 5q22microdeletion syndrome
- Hutchinson-Gilford progeria syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Osteopenia-intellectual disability-sparse hair syndrome
- Silver-Russell syndrome due to 7p11.2p13 microduplication
- Silver-Russell syndrome due to an imprinting defect of 11p15
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Temple syndrome
Sometimes5–29%
9- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Osteogenesis imperfecta
- SATB2-associated syndrome due to a chromosomal rearrangement
- Silver-Russell syndrome due to 11p15 microduplication
- SPONASTRIME dysplasia
- Temple syndrome due to paternal 14q32.2 microdeletion
- XYLT1-CDG
and 1 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: Disproportionately large head · Macrocephaly, relative
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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.