OMIM® :
57
Oculoectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals exhibit congenital scalp lesions which are atrophic, nonscarring, hairless regions that are often multiple and asymmetric in distribution, and may have associated hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and, rarely, epidermal nevus-like lesions. Epibulbar dermoids may be uni- or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, and cardiovascular defects, as well as neurodevelopmental symptoms such as developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older (summary by Boppudi et al., 2016).
(600268) (Updated 05-Apr-2021)
MalaCards based summary :
Oculoectodermal Syndrome, also known as
aplasia cutis congenita with epibulbar dermoids, is related to
encephalocraniocutaneous lipomatosis and
ossifying fibroma. An important gene associated with Oculoectodermal Syndrome is
KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are
ERK Signaling and
HIV Life Cycle. Affiliated tissues include
breast, and related phenotypes are
agenesis of corpus callosum and
aplasia/hypoplasia of the skin
Disease Ontology :
12
An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has material basis in somatic mosaic mutation in KRAS on chromosome 12p12.1.
GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3339 Definition Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.
UniProtKB/Swiss-Prot :
72
Oculoectodermal syndrome: A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.
Rare skin diseases 
