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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FGFR32421NM_000142.5AD

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