IllnessRobinow syndrome, autosomal recessive
Summary
Short information
2 curated single gene sequence analyses according to the clinical suspicion autosomal recessive Robinow syndrome
ID
RS0290
Number of genes
2
Accredited laboratory test
Examined sequence length
2,9 kb (Core-/Core-canditate-Genes)
4,2 kb (Extended panel: incl. additional genes)
4,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Informations about the disease
Clinical Comment
Less common type of Robinow syndrome with short-limb dwarfism, costovertebral segmentation defects + abnormalities of the head, face + external genitalia.
Synonyms
- Alias: AR Robinow syndrome
- Alias: Aplasia, hypoplasia of phalanges + metacarpals/metatarsals
- Alias: COVESDEM syndrome
- Alias: Costovertebral segmentation defect-mesomelia syndrome
- Allelic: Brachydactyly, type B1 (ROR2)
- Robinow syndrome, AR (NXN)
- Robinow syndrome, AR [with Aplasia/Hypoplasia phalanges + metacarpals/metatarsals] (ROR2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Q87.1
Bioinformatics and clinical interpretation
No text defined