Ectodermal Dysplasia

Gene: RSPO4

Green List (high evidence)

Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).

Multiple families with homozygous or compound heterozygous variants, in consanguineous and non-consanguineous families.
Sources: Literature

Created: 19 Sep 2024, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anonychia congenita MIM# 206800

Publications

• 17041604
• 17914448
• 18070203

Variants in this GENE are reported as part of current diagnostic practice