Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)

* This composite image of Craniodiaphyseal Dysplasia; CDD Autosomal Recessive was created to help geneticists get a better analysis

What is Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)?

Craniodiaphyseal Dysplasia, 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 change causes Craniodiaphyseal Dysplasia (CDD Autosomal Recessive)?

The exact causes of this incredibly rare genetic syndrome are as yet unknown. Due to consanguineous families, autosomal recessive inheritance has been suggested.

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, arms, and 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, short stature, and coarse facial features including frontal bossing ( a very prominent high forehead)

How is it diagnosed?

To find out if someone has a diagnosis of Craniodiaphyseal Dysplasia (CDD Autosomal Recessive), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Share this syndrome

* This composite image of Craniodiaphyseal Dysplasia; CDD Autosomal Recessive was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. 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 which occurs during the reproductive process.

Read more