Rare diseases · Sign or symptom
Hypoplasia of the pons
HP:0012110
What it means
Underdevelopment of the pons.
Rare diseases that can present with this20
Common30–79%
7- Bilateral frontoparietal polymicrogyria
- Cerebello-oculo-facio-genital syndrome
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Pontocerebellar hypoplasia type 1
- S-adenosylhomocysteine hydrolase deficiency
- Vici syndrome
Sometimes5–29%
9- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Cerebellar-facial-dental syndrome
- Congenital muscular dystrophy with cerebellar involvement
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Microcephalic cortical malformations-short stature due to RTTN deficiency
- Polymicrogyria due to TUBB2B mutation
- Septopreoptic holoprosencephaly
- Spinocerebellar ataxia type 8
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: Pontine hypoplasia
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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.