Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

Description

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

Clinical Features

Top most frequent phenotypes and symptoms related to Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly
  • Frontal bossing
  • Hydrocephalus
  • Abnormality of the skeletal system
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PTEN, L1CAM, POMT1, AP1S2, FLVCR2, DNAI1, P4HB, ZIC3, PIK3R2, AKT3, CCND2, CRB2, CCDC88C, MPDZ, WDR81, EML1, HDAC6
Specificity
6 %
Genes
100 %
HDAC6.

By Fulgent Genetics Fulgent Genetics in United States.

HDAC6
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia Is also known as ;x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome.



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