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Start free with EleplanCongenital cataract-anterior segment dysgenesis syndrome
ORPHA:162Malformation syndrome
Also called Congenital cataract-ASD syndrome · Congenital cataract-ASGD syndrome · Congenital cataract-ASMD syndrome · Congenital cataract-anterior segment mesenchymal dysgenesis syndrome
What it is
A rare genetic ophthalmic syndrome characterized by congenital progressive posterior cataract (usually bilateral) and anterior segment mesenchymal dysgenesis that can be associated with unilateral or bilateral glaucoma (either congenital or develop at a young age). Some patients may present only with cataracts. Microcornea (sometimes bilateral), corneal opacities including posterior embryotoxon, iris atrophy/iridocorneal adhesions and nystagmus are reported as additional clinical features in some patients.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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