Pterygium of the conjunctiva, familial form

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 2989
OMIM Id: 178000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Conjunctival tumor
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000502) Abnormality of the conjunctiva 6 / 7739
2
(HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
3
(HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
4
(HPO:0001059) Pterygium 16 / 7739
5
(OMIM) Wing-shaped conjunctival thickening in interpalpebral fissure 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pterygium of the conjunctive refers to a wing-shaped thickening in the bulbar conjunctiva. The process begins near one corner of the eye, most commonly the inner canthus. The progressive head is typically fleshy and can infiltrate the cornea ...
Clinical Description OMIM Although pterygium develops fairly late in life in most cases, it is evident at birth in rare instances (Schwartz, 1960). Jacklin (1964) reported 6 persons (4 females, 2 males) with congenital pterygium in 3 generations of a family. ...