IllnessMuenke syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Muenke syndrome

MS0250

Number of genes

1 Accredited laboratory test

Examined sequence length

2,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Sanger

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FGFR3	2421	134934	NM_000142.5	AD

Informations about the disease

Clinical Comment

Syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss, developmental delay

Synonyms

Alias: Muenke nonsyndromic coronal craniosynostosis
Allelic: Achondroplasia (FGFR3)
Allelic: Bladder cancer, somatic (FGFR3)
Allelic: CATSHL [CAmptodactyly, Tall Stature, Hearing Loss] syndrome (FGFR3)
Allelic: Cervical cancer, somatic (FGFR3)
Allelic: Colorectal cancer, somatic (FGFR3)
Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
Allelic: Hypochondroplasia (FGFR3)
Allelic: LADD [Lacrimo-Auriculo,Dento-Digital] syndrome (FGFR3)
Allelic: Nevus, epidermal, somatic (FGFR3)
Allelic: SADDAN; Severe Achondroplasia with Developmental Delay + Acanthosis Nigricans (FGFR3)
Allelic: Spermatocytic seminoma, somatic (FGFR3)
Allelic: Thanatophoric dysplasia, type I +II (FGFR3)
Muenke syndrome (FGFR3)

Heredity, heredity patterns etc.

OMIM-Ps

602849

ICD10 Code

Bioinformatics and clinical interpretation

No text defined