Categories

A sample text widget

Etiam pulvinar consectetur dolor sed malesuada. Ut convallis euismod dolor nec pretium. Nunc ut tristique massa.

Nam sodales mi vitae dolor ullamcorper et vulputate enim accumsan. Morbi orci magna, tincidunt vitae molestie nec, molestie at mi. Nulla nulla lorem, suscipit in posuere in, interdum non magna.

What is the Bardet–Biedl Syndrome?

The Bardet–Biedl syndrome is:
• a human cellular cilia genetic defect.
• produces several effects on body systems.

Overview of Bardet–Biedl Syndrome

It is characterized mainly by:
• Obesity
• Retinitis pigmentosa
• Polydactyl
• Hypogonadism
• Renal failure
• Mental retardation

Summary of the Syndrome

Bardet–Biedl syndrome occurs when one gene shows its influences on multiple phenotypic traits. It shows a variation in expression along with a large variation of clinical variability which is often discovered both within and between families. The important clinical features are:
• Rod–cone Dystrophy.
• Childhood-onset visual loss.
• Preceded by night blindness.
• Postaxial polydactyl.
• Fat accumulation in body during infancy that lasts till adulthood.
• Specific learning difficulties in some individuals for not for all of them.
• Malformations in Male hypogenital organs.
• Malformations in complex female genitourinary organs.
• Renal dysfunction.

There is a large range of secondary features which can sometimes be associated with BBS like:
• Speech disorder or delay
• Strabismus or cataracts or astigmatism
• “Brachydactyly or syndactyly of both the hands and feet

Developmental delay in Children
Many of the children with BBS have a delay in reaching major developmental milestones which includes:
• Gross motor skills
• Fine motor skills
• Psychosocial skills

Signs and Symptoms of Bardet–Biedl Syndrome

• Polyuria or polydipsia (nephrogenic diabetes insipidus)
• Ataxia or poor coordination or imbalance
• Mild hypertonia (especially lower limbs)
• Diabetes mellitus
• Dental crowding or hypodontia or small dental roots
• High-arched palate
• Cardiovascular anomalies
• Hepatic involvement
• Anosmia
• Auditory deficiencies
• Hirschsprung disease

Eponym and classification

• Georges Bardet and Arthur Biedl named this syndrome.
• About 14 genetic forms are identified at present.
• The first case that came into light of this syndrome was of Laurence and Moon which was in 1866.
• He discovered this syndrome at the Ophthalmic Hospital in South London.
• The mentioned above contents are the key elements of the Bardet–Biedl syndrome.
• Laurence–Moon syndrome is usually considered different from this syndrome.

Major Clinical Features

Eyes
• Pigmentary retinopathy
• Poor visual acuity
• Low vision
• Blindness
• Vision loss due to impaired photoreceptor transport mechanism.
• This mechanism occurs in the retina.

Nose
• Loss or reduced sense of smell
• Extra-sensitive to smell

Hand and foot
• Polydactyly – extra digits
• Syndactyly – webbing of fingers and toes

Cardiovascular system
• Hypertrophy of inter-ventricular septum and left ventricle
• Dilated cardiomyopathy

Gastrointestinal system
• Fibrosis

Urogenital system
• Hypogonadism
• Renal failure
• Urogenital sinuses
• Ectopic urethra
• Uterus duplex
• Septate vagina

Hyperplasia of the:
• Uterus
• Ovaries
• Fallopian tubes

Growth and Development
• Mental and growth retardation

Behavior and Performance
• Social interaction problems.
• Some call it as a kind of “mild-Autism.”
• Thermo sensation that is defective.

Leave a Reply

You can use these HTML tags

<a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>