Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)

What is Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)?

Craniodiaphyseal Dysplasia or Iionitis as it is sometimes called, is a very rare bone disorder where calcium builds up in the skull affecting the facial features of those affected.

Abnormally shaped bones, a hardening of the bones, and excessive overgrowth of the bones characterize the syndrome.

What gene changes cause Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)?

The exact causes of this incredibly rare genetic syndrome are as yet unknown.

What are the main symptoms of Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)?

The main symptoms of the syndrome are:

-Bone dysplasia: abnormally shaped bones in the head, spine and arms, legs

-Massive bone sclerosis: hardening of the bones

-Hyperostosis: excessive bone growth in the skull and face

These symptoms then lead to distinct facial features and associated health issues that may reduce the life expectancy of individuals with the syndrome.

Other symptoms of the syndrome include rib abnormalities, a short stature and coarse facial features including frontal bossing ( a very prominent high forehead)

How does someone get tested for Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)?

The initial diagnosis of Craniodiaphyseal Dysplasia can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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