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BBB syndrome, X-linked

BBB syndrome, X-linked: Introduction

BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes. More detailed information about the symptoms, causes, and treatments of BBB syndrome, X-linked is available below.

Symptoms of BBB syndrome, X-linked

Treatments for BBB syndrome, X-linked

  • Treatment involves managing symptoms as they develop or repairing defects if possible:
  • Surgery may be needed to correct malformations or defects such as cleft lip or palate, heart defects, imperforate anus and trachea-esophageal defects
  • Genetic counseling and joining a support group is also recommended
  • Tracheostomy may be required if the airway is compromised due to laryngeal or esophageal defects
  • Speech therapy may be required for speech problems resulting from cleft lip or palate
  • more treatments...»

Wrongly Diagnosed with BBB syndrome, X-linked?

BBB syndrome, X-linked: Complications

Review possible medical complications related to BBB syndrome, X-linked:

Causes of BBB syndrome, X-linked

  • The condition is caused by a genetic defect which is inherited in a X-linked manner
  • more causes...»

More information about causes of BBB syndrome, X-linked:

Prognosis for BBB syndrome, X-linked

Prognosis for BBB syndrome, X-linked: The prognosis varies depending on the type and severity of the symptoms which can vary considerably amongst patients. Prognosis and quality of life can be improved by appropriate treatment and monitoring. Most patients have a normal life span and normal growth. Females have few if any symptoms.

Statistics for BBB syndrome, X-linked

BBB syndrome, X-linked: Broader Related Topics

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Definitions of BBB syndrome, X-linked:

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list BBB syndrome, X-linked as a "rare disease".
Source - Orphanet

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Videos about BBB syndrome, X-linked

 

More information about BBB syndrome, X-linked

  1. BBB syndrome, X-linked: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Complications
  6. Prognosis
 

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