X-linked corneal dermoid

Orpha code: 1661OMIM code: 304730

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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