Central cloudy dystrophy of Francois(CCDF)

MedGen UID:: 302006
•Concept ID:: C1622427
•: Disease or Syndrome

Synonyms:	CCDF; Central cloudy dystrophy of François
SNOMED CT:	Central cloudy dystrophy of Francois (419074008); Francois' cloudy dystrophy of cornea (419074008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0009018
OMIM®:	217600
Orphanet:	ORPHA98972

Definition

Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. [from ORDO]

Clinical features

From HPO

Corneal dystrophy

MedGen UID:: 3619
•Concept ID:: C0010036
•: Disease or Syndrome

The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.

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Central corneal dystrophy