Rare diseases · Sign or symptom
Progressive microcephaly
Progressively abnormally small cranium
HP:0000253
What it means
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Rare diseases that can present with this30
Very common80–99%
10- Autosomal recessive cutis laxa type 2, classic type
- Classic glucose transporter type 1 deficiency syndrome
- Cockayne syndrome
- De Barsy syndrome
- FOXG1 syndrome
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Rett syndrome
- Wrinkly skin syndrome
- X-linked intellectual disability, Najm type
Common30–79%
14- ALG12-CDG
- ALG1-CDG
- ALG9-CDG
- COG7-CDG
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Fatty acyl-CoA reductase 1 deficiency
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Lissencephaly due to LIS1 mutation
- MGAT2-CDG
- Pontocerebellar hypoplasia type 1
- Pontocerebellar hypoplasia type 2
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements 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: Microcephaly, postnatal, progressive · Microcephaly, progressive · Progressively abnormally small skull
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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.