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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessKenny-Caffey-Syndrom 1 + 2

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Summary

Short information

KP6119_KI

ID
KP6119
Number of loci
No loci linked Accredited laboratory test
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

KP6119_DH

 

Loci panel

No loci linked

Informations about the disease

Clinical Comment

KCS 1: TBCE-Gen

KCS 2: FAM111A-Gen

 

Synonyms
  • Alias: Dwarfism, cortical thickening of tubular bones + transient hypocalcemia (FAM111A)
  • Alias: Kenny syndome (FAM111A)
  • Alias: Kenny-Caffey syndrome, AR (TBCE)
  • Allelic: Encephalopathy, progressive, with amyotrophy and optic atrophy (TBCE)
  • Allelic: Gracile bone dysplasia (FAM111A)
  • Allelic: Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • Kenny-Caffey syndrome, type 1 (TBCE)
  • Kenny-Caffey syndrome, type 2 (FAM111A)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined