Autosomal Recessive Craniometaphyseal Dysplasia

Autosomal Recessive Craniometaphyseal Dysplasia

Article
Ear, Nose, & Throat (ENT)
Bone, Muscle, & Joint
+3
Contributed byKrish Tangella MD, MBAJan 13, 2022

The topic Autosomal Recessive Craniometaphyseal Dysplasia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Craniometaphyseal Dysplasia.

Quick Summary:

  • Craniometaphyseal Dysplasia (CMD) is a very rare genetic disorder observed in infants, right from birth. The symptoms of CMD are mainly related to physical abnormalities, especially in the head
  • The main risk factor is having a family history of Craniometaphyseal Dysplasia. The disorder is known to be inherited in an autosomal dominant as well as an autosomal recessive manner
  • Craniometaphyseal Dysplasia is diagnosed via a physical examination, family history evaluation, and genetic testing
  • Surgery for the physical abnormalities and supportive care are the main treatment options for Craniometaphyseal Dysplasia. The prognosis is dependent upon the severity of the symptoms. But, with early and adequate treatment, the prognosis for a majority of individuals is good

Please find comprehensive information on Craniometaphyseal Dysplasia regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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