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IllnessChondrodysplasia punctata, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Chondrodysplasia punctata containing 4 core genes, 3 core candidate genes and altogether 18 curated genes according to the clinical signs

ID
CP7654
Number of genes
18 Accredited laboratory test
Examined sequence length
9,7 kb (Core-/Core-canditate-Genes)
26,9 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-GReferenz-Seq.Heredity
AGPS1977NM_003659.4AR
ARSL1780NM_000047.3XLR
EBP693NM_006579.3XL
GNPAT2043NM_014236.4AR
MGP312NM_000900.5AR
PEX51920NM_001131025.2AR
PEX7972NM_000288.4AR
DHCR241551NM_014762.4AR
DHCR71428NM_001360.3AR
FAR11548NM_032228.6AR
GGCX2277NM_000821.7AR
LBR1848NM_002296.4AR
MSMO1489NM_001017369.3AR
NSDHL1122NM_015922.3XL
POR2043NM_001395413.1AR
SC5D900NM_001024956.3AR
VKORC1492NM_024006.6AD, AR
VPS35L3462NM_020314.7AR

Informations about the disease

Clinical Comment

All forms of chondrodysplasia punctata (CP) impair cartilage and bone development and show up as "stippling" on radiographs. In X-linked CP (XLCP) 1, the stippling generally disappears in early childhood. Characteristic features include short stature, unusually short fingertips and toes, and prominent facial features. Patients, usually male, are usually of normal intelligence and have normal life expectancy. Some affected individuals develop serious complications such as airway obstruction, spinal cord compression, developmental delay, hearing loss, visual disturbances, and heart defects. XLCP 2 is characterized by skin and eye abnormalities in addition to bone damage. Symptoms vary widely, but mottling disappears in early childhood. Other skeletal abnormalities include asymmetric rhizomelia and progressive kyphoscoliosis with short stature. Neonates have ichthyosis, later follicular atrophoderma with sparse, coarse scalp hair, and congenital or early cataract, microphthalmia, and microcornea. In the female Gsex, XLCP 2 is usually associated with normal intelligence and life expectancy. A much more severe form occurs in very few boys; it is associated with various birth defects, hypotonia, severe developmental delay and seizures. In rhizomelic CP (RCP), the normal development is impaired with skeletal abnormalities, mental retardation, respiratory problems, contractures and congenital or early cataracts. Affected infants grow very slowly, many have seizures. Recurrent respiratory infections and severe respiratory problems are common. As a result, most patients survive only into infancy. Three RCP subtypes with similar features are distinguished by mutations in the PEX7, GNPAT and AGPS genes, while XLCP 1 and 2 are caused by ARSL and EBP mutations, respectively. A negative DNA test result cannot exclude the clinical diagnosis with certainty.

References: https://www.ncbi.nlm.nih.gov/books/NBK1544/

https://www.ncbi.nlm.nih.gov/books/NBK55062/

https://www.ncbi.nlm.nih.gov/books/NBK1270/

 

Synonyms
  • Alias: Arylsulfatase E Deficiency (CDPX1)
  • Alias: Brachytelephalangic chondrodysplasia punctata, BCDP
  • Alias: Chondrodysplasia punctata 1, XL (ARSL)
  • Alias: Chondrodysplasia punctata 2, XL (EBP)
  • Alias: Chondrodysplasia punctata, CDP
  • Alias: Chondrodysplasia punctata, rhizomelic (PEX7, GNPAT, AGPS)
  • Alias: Chondrodysplasie p.
  • Alias: Conradi-Hünermann[-Happle] syndrome (EBP)
  • Alias: Happle syndrome (EBP)
  • Alias: XLR chondrodysplasia punctata 1 (ARSL)
  • 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

Bioinformatics and clinical interpretation

No text defined