IllnessThanatophoric dysplasia I/II
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Thanatophoric dysplasia I/II
ID
TS0170
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 | Referenz-Seq. | Heredity |
---|---|---|---|---|
FGFR3 | 2421 | NM_000142.5 | AD |
Informations about the disease
Clinical Comment
Type 1 (ORPHA:1860): short, bowed femurs, micromelia, narrow thorax + brachydactyly
Type 2 (ORPHA:93274): micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs + clover-leaf skull (kleeblattschaedel)
Synonyms
- Alias: Cloverleaf skull-micromelic bone dysplasia syndrome
- Alias: Lethal short-limbed platyspondylic dwarfism, San Diego type
- Alias: Platyspondylic lethal skeletal dysplasia, San Diego type
- Alias: Thanatophoric dwarfism
- Alias: Thanatophoric dwarfism-cloverleaf
- Alias: Thanatophoric dwarfism-cloverleaf skull syndrome
- Allelic: Achondroplasia (FGFR3)
- Allelic: CATSHL [CAmptodactyly, Tall Stature, Hearing Loss] syndrome (FGFR3)
- Allelic: Crouzon syndrome [craniofacial dysostosis] with acanthosis nigricans (FGFR3)
- Allelic: Hypochondroplasia (FGFR3)
- Allelic: LADD [LacrimoAuriculoDentoDigital] syndrome (FGFR3)
- Allelic: Muenke syndrome (FGFR3)
- Allelic: SADDAN [Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans] (FGFR3)
- Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined