Chondrodysplasia punctata - lethal form

What is Chondrodysplasia punctata - lethal form?

Chondrodysplasia punctata - lethal form is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Kumada et al., (2001) reported a male infant, the offspring of non-consanguineous parents, with a form of chondrodysplasia punctata resembling the lethal rhizomelic form, but with normal peroxisomal studies and no evidence of a cholesterol biosynthesis defect. The child died at 2 years of age with respiratory muscle weakness. There was frontal bossing, hypertelorism, a depressed nasal bridge, low-set ears, and a small chin. Bilateral single palmar creases were also noted. There was rhizomelic shortening of the upper and lower limbs, flat cervical vertebral bodies, stippling of the tarsals, knees, hip joints, elbows, shoulders and spinal column. The ribs were also thin. MRI scan of the brain showed diffuse atrophy which was most prominent in the left frontal and temporal lobes.
Note the cases associated with maternal autoimmune disease (Nayak et al., 2012)

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* This information is courtesy of the L M D.

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What gene changes cause Chondrodysplasia punctata - lethal form?

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

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

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.

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

What are the main symptoms of Chondrodysplasia punctata - lethal form?

The typical symptoms of the syndrome are:

How does someone get tested for Chondrodysplasia punctata - lethal form?

The initial testing for Chondrodysplasia punctata - lethal form 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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