Short tarsus - absence of lower eyelashes

General Information (adopted from Orphanet):

Synonyms, Signs: STALE
Lopes-Gorlin syndrome
Number of Symptoms 12
OrphanetNr: 2832
OMIM Id: 600269
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
2
 (HPO:0009743) Distichiasis Very frequent [Orphanet] 9 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
4
 (HPO:0007697) Hypoplasia of the lower eyelids 1 / 7739
5
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
6
 (HPO:0007646) Absent lower eyelashes 1 / 7739
7
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
8
 (OMIM) Short and small lower tarsus 1 / 7739
9
 (OMIM) Hypoplastic lower eyelids 1 / 7739
10
 (OMIM) Normal upper eyelashes 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Thin and short upper tarsus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: