Tuesday, January 26, 2010

Rare birth disorders: Rubinstein-Taybi Syndrome

What is RTS?
Rubinstein-Taybi syndrome (RTS) is a genetic multi-system disorder characterised by facial abnormalities, broad thumbs and great toes, and mental retardation.
In many cases, RTS is caused by a deletion or mutation in the short arm (p) of chromosome 16. RTS is found equally in both males and females and is considered to be a rare syndrome, occurring in 1 out of every 100,000 to 300,000 live births.

Features and characteristics
There are many characteristics associated with RTS. Not every individual has all the characteristics, however, the following is a list of traits that have been reported:

Broad thumbs and/or toes (sometimes angulated)
Mental retardation (from mild to severe)
Beaked nose
Short stature (delayed bone age)
Broad nasal bridge
Malformed ears
High arched palate
Widely spaced eyes
Downward slant of eyes
Extra fold of skin on either side of the nose
Droopy eyelids
Heavy or highly arched eyebrows
Small head (microcephaly)
Small lower jaw
Flat red birthmark on forehead
Hyperextensible joints
Small tilted pelvis
Undescended testicles in males
Feeding difficulties
Respiratory infections
Eye infections
Cardiac anomalies
Vertebral abnormalities
Gastroesophageal reflux and vomiting
Kidney abnormalities
Orthopedic problems

The diagnosis of RTS can be made following a complete clinical exam (including X-rays of the hands and feet for bone malformations, a CT-scan or MRI for characteristic brain malformations, an EEG for electrical activities of the brain, and an EKG or echocardiogram for congenital heart defects). RTS may also be confirmed by FISH studies, which could possibly detect a deletion or mutation in chromosome 16p. While some children with more severe characteristics can be diagnosed at birth, others who are more mildly affected (lacking severe medical problems, extreme physical characteristics, or moderate to severe mental retardation) may not be diagnosed until adolescence.

Most children with RTS will benefit from an early intervention programme with an emphasis on speech therapy, as speech is typically an area of slower development. Additionally, some children with RTS will not be able to speak verbally and may need to learn sign language as an alternative form of communication. Some children with skeletal abnormalities may also benefit from physical and occupational therapy.

What to expect
Individuals with RTS are usually happy, social people. Children with RTS love to touch anything and enjoy manipulating objects. They typically enjoy books, water, people, and music. Children with RTS usually will learn to crawl between 1 and 2 years of age and walk between 2 to 4 years of age. Their receptive skills are typically much higher than expressive skills (they can understand most of what is said to them but may not be able to express themselves).

Most children with RTS will need to be in a special education programme and will need assistance with feeding and dressing.

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