Chondrodysplasia Punctata syndrome

What is Chondrodysplasia Punctata syndrome?

Chondrodysplasia Punctata syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Toriello et al., (1993) reported a brother and sister, born to nonconsanguineous parents. They both had brachycephaly, a small nose with anteverted nares, low-set ears and midface hypoplasia. They also both had an iris coloboma. Stippling of the proximal humeral epiphyses was demonstrated in the girl at birth. She also had a retarded bone age and "dysplastic distal phalanges" at birth. There was unexplained hepatosplenomegaly in the girl and a liver biopsy simply showed hepatic fibrosis. Development was delayed. Other features of the condition include dislocation of the hip, diastasis recti, deep palmar creases and toenail hypoplasia.
Although the authors classify this condition as a form of chondrodysplasia punctata, no radiological investigations were reported in the boy and the only evidence for this type of condition was the stippling of the proximal humeral epiphyses at birth in the sister, which was not illustrated in the article.
Ciske et al., (1998) reported a female infant with features resembling the current condition. There was a right retinal coloboma, calcifications in the liver revealed by ultrasound scan and mild splenomegaly. Cranial ultrasound revealed partial absence of the corpus callosum, and an enlarged cisterna magna, a small cerebellar vermis, and mild enlargement of the anterior horns of the lateral ventricles. Radiographs of the skeleton showed punctate calcification at the proximal humeral and femoral epiphyses bilaterally, thin and gracile ribs, broad and triangular metaphyses, and brachytelephalangy of the hands and feet. There was also a cardiac defect consisting of an incomplete atrioventricular canal defect, and coarctation of the aorta.

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* This information is courtesy of the L M D.

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What gene changes cause Chondrodysplasia Punctata syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 215105 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Chondrodysplasia Punctata syndrome?

The typical symptoms of the syndrome are:

How does someone get tested for Chondrodysplasia Punctata syndrome?

The initial testing for Chondrodysplasia Punctata syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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