1. Mendelian
  2. Rare Disease Genes
  3. RSPO4

RSPO4 gene related symptoms and diseases

All the information presented here about the RSPO4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RSPO4 gene

Symptoms // Phenotype % Cases
Short distal phalanx of finger Very Common - Between 80% and 100% cases
Anonychia Very Common - Between 80% and 100% cases

Rare diseases associated to RSPO4 gene

Here you will find a list of rare diseases related to the RSPO4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ANONYCHIA CONGENITA TOTALIS

Alternate names

ANONYCHIA CONGENITA TOTALIS Is also known as anonychia/hyponychia congenita, anonychia totalis

Description

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 (OMIM ).

Most common symptoms of ANONYCHIA CONGENITA TOTALIS

  • Short distal phalanx of finger
  • Anonychia


More info about ANONYCHIA CONGENITA TOTALIS

SOURCES: MESH ORPHANET OMIM


Potential gene panels for RSPO4 gene

Anonychia Congenita Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the RSPO4 gene.

More info about this panel
Germany.

RSPO4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RSPO4 gene.

More info about this panel
United States.

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