Rare diseases · Sign or symptom
Developmental cataract
Clouding of the lens of the eye at birth
HP:0000519
What it means
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy.
Rare diseases that can present with this42
Very common80–99%
8- Cataract-ataxia-deafness syndrome
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cataract-hypertrichosis-intellectual disability syndrome
- Congenital fibrinogen deficiency
- Hallermann-Streiff syndrome
- HEC syndrome
- Hypomyelination-congenital cataract syndrome
- Spastic ataxia-corneal dystrophy syndrome
Common30–79%
10- Aymé-Gripp syndrome
- Basel-Vanagaite-Smirin-Yosef syndrome
- Cataract-deafness-hypogonadism syndrome
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- DPAGT1-CDG
- Oculoskeletodental syndrome
- Persistent hyperplastic primary vitreous
- Primary non-essential cutis verticis gyrata
- Rothmund-Thomson syndrome type 1
- X-linked intellectual disability, Seemanova type
Sometimes5–29%
21- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- 49,XYYYY syndrome
- Atypical Werner syndrome
- Autosomal dominant cutis laxa
- Autosomal dominant Kenny-Caffey syndrome
- Autosomal dominant spastic paraplegia type 9A
- Autosomal dominant spastic paraplegia type 9B
- Autosomal recessive spastic paraplegia type 25
and 13 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: Bilateral congenital cataracts · Cataract, congenital · Congenital cataract · Congenital cataracts · Congenital cataracts, bilateral
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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.