IllnessRobinow syndrome, autosomal recessive

Request form illness

Summary

Short information

2 curated single gene sequence analyses according to the clinical suspicion autosomal recessive Robinow syndrome

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)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
ROR2	2832	602337	AD, AR
NXN	1308	612895	AR

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.

OMIM-Ps

602337

ICD10 Code

Q87.1

Bioinformatics and clinical interpretation

No text defined