Nail Disorder, Nonsyndromic Congenital, 4

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OMIM 57 206800 Disease Ontology 12 DOID:0050643 DOID:0080082 Orphanet 59 ORPHA79143 ORPHA94150 ICD10 via Orphanet 34 Q84.3 UMLS via Orphanet 74 C0265998 MedGen 42 C3277900 C0265998

MeSH 44 D009260 KEGG 37 H00683 ICD10 33 Q84.3 SNOMED-CT via HPO 69 258211005 23610003 UMLS 73 C3277900

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)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 4, also known as anonychia congenita, is related to temple-baraitser syndrome and anonychia, total, with microcephaly. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include bone and skin, and related phenotype is anonychia.

UniProtKB/Swiss-Prot : ⁷⁵ Nail disorder, non-syndromic congenital, 4: 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.

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79143Disease definitionIsolated 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 recessivetrait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.Visit the Orphanet disease page for more resources.

Genetics Home Reference : ²⁵ 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.

Clinical features from OMIM:

206800

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