Nail Disorder, Nonsyndromic Congenital, 4 (NDNC4)

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OMIM®: ⁵⁷ 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). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (206800) (Updated 08-Dec-2022)

MalaCards based summary: Nail Disorder, Nonsyndromic Congenital, 4, also known as anonychia congenita, is related to epidermolysis bullosa and coloboma of macula with type b brachydactyly. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4), and among its related pathways/superpathways is Keratinization. Affiliated tissues include bone, skin and bone marrow, and related phenotype is anonychia.

MedlinePlus Genetics: ⁴² Anonychia congenita is a condition that affects the fingernails and toenails. Individuals with this condition are typically missing all of their fingernails and toenails (anonychia). This absence of nails is noticeable from birth (congenital). In some cases, only part of the nail is missing (hyponychia) or not all fingers and toes are affected. All of the other tissues at the tips of the fingers and toes, including structures that usually support the nail and its growth (such as the nail bed), are normal.Individuals with anonychia congenita do not have any other health problems related to the condition.

Orphanet: ⁵⁸ Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.

Disease Ontology: ¹¹ A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has material basis in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.

UniProtKB/Swiss-Prot: ⁷³ A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.

Wikipedia: ⁷⁵ Anonychia is the absence of fingernails or toenails, an anomaly which may be the result of a congenital... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 4