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Nonsyndromic congenital nail disorder 5
Hereditary distal onycholysis is an autosomal dominant nail disorder characterized by a decreased rate of growth of the nail, scleronychia, and a straight or concave proximal edge of detachment. Clinical features may include palmoplantar hyperhydrosis and marked sensitivity of the fingers to cold (summary by Bazex et al., 1990). Hereditary distal onycholysis is referred to here as nonsyndromic congenital nail disorder-5 (NDNC5). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). [from OMIM]
Nonsyndromic congenital nail disorder 9
Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). [from OMIM]
Epidermolysis bullosa, junctional 5A, intermediate
Intermediate junctional epidermolysis bullosa 5A (JEB5A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nails may be dystrophic and dental enamel defects are present. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. [from OMIM]
Onycholysis of distal fingernails
Detachment of the distal fingernails from the nail bed. [from HPO]
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