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

IllnessChondrodysplasia punctata, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Chondrodysplasia punctata comprising 8 or 18 curated genes according to the clinical signs

ID
CP7654
Number of genes
10 Accredited laboratory test
Examined sequence length
8,3 kb (Core-/Core-canditate-Genes)
14,3 kb (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-GHeredity
AGPS1977AR
ARSL1780XLR
EBP693XL
GNPAT2043AR
MGP312AR
PEX7972AR
VKORC1492AD
DHCR71428AR
NSDHL1122XL
VPS35L3462AD

Informations about the disease

Clinical Comment

Group of disorders

 

Synonyms
  • Alias: Arylsulfatase E Deficiency (CDPX1)
  • Alias: Brachytelephalangic chondrodysplasia punctata, BCDP
  • Alias: Chondrodysplasia punctata, CDP
  • Alias: Chondrodysplasie p.
  • Allelic: Cataracts, spastic paraparesis + speech delay (FAR1)
  • Allelic: Pelger-Huet anomaly (LBR)
  • Allelic: Peroxisome biogenesis disorder 2A, Zellweger (PEX5)
  • Allelic: Peroxisome biogenesis disorder 2B (PEX5)
  • Allelic: Reynolds syndrome (LBR)
  • Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
  • CK syndrome: Mental retardation, XL, thin habitus, cortical malformation (NSDHL)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
  • Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome (NSDHL)
  • Conradi-Hünermann syndrome, Happle syndrome (EBP)
  • Desmosterolosis (DHCR25)
  • Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
  • Greenberg skeletal dysplasia (LBR)
  • Keutel syndrome: Pulm. stenoses, brachytelephalangy, deafness, abnormal cartilage ossification (MGP)
  • Lathosterolosis (SC5D)
  • Lipodystrophy, congenital generalized, type 1 (AGPS)
  • Male EBP disorder with neurologic defects [MEND] syndrome (EBP)
  • Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
  • Pelger-Huet anomaly with mild skeletal anomalies (LBR)
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
  • Pulmonic stenoses, brachytelephalangy, deaf, abnormal cartilage ossification/calcification (MGP)
  • Refsum peroxisomal disease 9B (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
  • Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
  • Rhizomelic chondrodysplasia punctata, type 4 (FAR1)
  • Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Ritscher-Schinzel syndrome 3 (VPS35L)
  • Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
  • XLD chondrodysplasia punctata as phenocopy of warfarin embryopathy (VKORC1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q77.3

Bioinformatics and clinical interpretation

No text defined