BBB syndrome, X-linked

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

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Few if any symptoms in females
Wide-set eyes
Laryngeal defects
Tracheal defects
Esophageal defects
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See full list of 29 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
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See full list of 6 treatments for BBB syndrome, X-linked

Wrongly Diagnosed with BBB syndrome, X-linked?

Failure to diagnose BBB syndrome, X-linked
Hidden causes of BBB syndrome, X-linked (possibly wrongly diagnosed)
Undiagnosed: BBB syndrome, X-linked

BBB syndrome, X-linked: Complications

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

Infant death
Aspiration due to esophageal, pharyngeal or laryngeal defects
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Causes of BBB syndrome, X-linked

The condition is caused by a genetic defect which is inherited in a X-linked manner
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More information about causes of BBB syndrome, X-linked:

Underlying 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.

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Statistics for BBB syndrome, X-linked

BBB syndrome, X-linked: Broader Related Topics

Genetic conditions
Congenital conditions - physical defects
Congenital conditions
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Types of BBB syndrome, X-linked

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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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