X-linked corneal dermoid

Orpha code: 1661OMIM code: 304730

Definition

X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.

Disease data
Classification

Disease

Synonyms
Corneal dystrophy epithelial-short stature syndrome
Nabłonkowa dystrofia rogówki - niski wzrost
Zespół Guízar-Vázqueza i Luengas-Muñoza
Guízar Vázquez-Luengas-Muñoz syndrome
ORPHA code
1661
OMIM code
304730
ICD10 code
Q13.4
ICD11 code
2F36.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl