1. Mendelian
  2. Rare Diseases
  3. OMODYSPLASIA 2; OMOD2

Omodysplasia 2; Omod2

Description

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

Genes related to Omodysplasia 2; Omod2

  • FZD2

Clinical Features

Top most frequent phenotypes and symptoms related to Omodysplasia 2; Omod2

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing
  • Short nose
  • Long philtrum
  • Malar flattening
  • Hypospadias
  • Micropenis
And another 14 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Not enough data available about incidence and published cases.


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Omodysplasia 2; Omod2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Robinow syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

WNT5A, ROR2, DVL1, NXN, FZD2, DVL3
Specificity
17 %
Genes
100 %
Robinow syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

WNT5A, ROR2, DVL1, NXN, FZD2, DVL3
Specificity
17 %
Genes
100 %
Omodysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GPC6, FZD2
Specificity
50 %
Genes
100 %
Omodysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

GPC6, FZD2
Specificity
50 %
Genes
100 %
Robinow syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

WNT5A, ROR2, DVL1, NXN, FZD2, DVL3
Specificity
17 %
Genes
100 %
Omodysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GPC6, FZD2
Specificity
50 %
Genes
100 %
FZD2.

By Fulgent Genetics Fulgent Genetics in United States.

FZD2
Specificity
100 %
Genes
100 %

Alternate names

Omodysplasia 2; Omod2 Is also known as omodysplasia, autosomal dominant;.


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