Deutsch
IllnessMuenke syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Muenke syndrome
ID
MS0250
Number of genes
1
Accredited laboratory test
Examined sequence length
2,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional 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 | Heredity |
|---|---|---|---|
| FGFR3 | 2421 | 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.
- AD
OMIM-Ps
ICD10 Code
Q75.0
Bioinformatics and clinical interpretation
No text defined