Oculoectodermal syndrome

What it is

A rare ectodermal dysplasia syndrome characterized by aplasia cutis congenita and epibulbar dermoids. Affected individuals present mostly with multiple, asymmetrically distributed, hairless, non scarring, atrophic, congenital scalp lesions and unilateral or bilateral epibulbar dermoids with or without other ocular anomalies (including strabismus, nystagmus, microcornea, and microphthalmia). Eyelid coloboma, acrochordons, linear/cutaneous hyperpigmentation, mostly following Blaschko lines, can also be present. Giant cell granulomas of the jaws and nonossifying fibromas of the long bones are commonly observed in individuals starting from 5 years old. Additional and variable clinical features including growth failure, neurodevelopmental delay, epilepsy, learning difficulties, behavioral abnormalities, lymphedema, macrocephaly, cardiovascular defects, facial asymmetry and mild dysmorphism were reported in some patients.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, Neonatal

Inheritance

Not applicable

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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

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.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references