ANONYCHIA

Known as: Congenital absence of nails (anonychia), Anonychia congenita, Hyponychia congenita 
Aplasia of the nail. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

11 relations
Al Awadi syndromeAnonychia-onychodystrophy with hypoplasia or absence of distal phalangesCongenital absenceMAMMARY-DIGITAL-NAIL SYNDROME
(More)

Narrower (1)

Anonychia with Flexural Pigmentation

Broader (2)

Congenital DisordersNails, Malformed

Papers overview

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Review
2014
Review
2014
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
BACKGROUND Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the… (More)
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2013
2013
A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
Congenital anonychia is an inherited autosomal recessive disorder characterized by complete absence of fingernails or toenails… (More)
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Review
2012
Review
2012
The R-spondin protein family
The four vertebrate R-spondin proteins are secreted agonists of the canonical Wnt/β-catenin signaling pathway. These proteins are… (More)
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2008
2008
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied… (More)
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2008
2008
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
Congenital anonychia is a rare autosomal-recessive disorder characterized by the absence of finger- and toenails. Recently, we… (More)
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Highly Cited
2006
Highly Cited
2006
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype… (More)
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2006
2006
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German… (More)
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2002
2002
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in… (More)
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1997
1997
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.
Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic… (More)
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1969
1969
Dominant anonychia and onychodystrophy.
Case 1. The grandfather, II.3, born in 1889, suffers from lymphatic leukaemia and diabetes. As can be seen in Fig. 2a, the hands… (More)
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