NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8

General Information (adopted from Orphanet):

Synonyms, Signs: TOENAIL DYSTROPHY, ISOLATED
NDNC8
Number of Symptoms 4
OrphanetNr:
OMIM Id: 607523
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
2
(OMIM) Nail plate buried in nail bed 1 / 7739
3
(OMIM) Toenail dystrophy, most severe in nails of great toes 1 / 7739
4
(OMIM) Distal free edge of toenail is deformed and narrow 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (226600) or transient bullous dermolysis of the ...
Clinical Description OMIM Sato-Matsumura et al. (2002) reported 2 unrelated Japanese families in which isolated toenail deformity was inherited in an autosomal dominant manner. The nail plates of the toes were buried in the nail bed, and the free edge of ...
Molecular genetics OMIM In the family of a 14-month-old girl with transient bullous dermolysis of the newborn (TBDN; 131705) due to compound heterozygosity for mutations in COL7A1 (G2251E, 120120.0014 and G1519D, 120120.0015), Hammami-Hauasli et al. (1998) observed that the mother, a ...