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Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

MedGen UID:
341663
Concept ID:
C1856969
Disease or Syndrome
Synonyms: Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders; Epidermolysis bullosa, late-onset localized junctional, with mental retardation
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0009177
OMIM®: 226440
Orphanet: ORPHA231556

Definition

A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLate-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Follow this link to review classifications for Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome in Orphanet.

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