What Causes Lamb-Shaffer Syndrome?

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Lamb-Shaffer syndrome (LAMSHF) is a rare disorder reported in less than 100 patients worldwide.

How common is Potocki Shaffer syndrome?

Potocki-Shaffer syndrome is a rare condition, although its prevalence is unknown. Fewer than 100 cases have been reported in the scientific literature.

How do you know if it is autosomal dominant or recessive?

“Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the disease-associated mutation is enough to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation are needed to cause the disease.

What are some examples of autosomal recessive disorders?

Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.

What is Pallister Killian syndrome?

Pallister-Killian mosaic syndrome is a rare chromosomal disorder caused by the presence of at least four copies of the short arm of chromosome 12 instead of the normal two.

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What are symptoms of Jacobsen syndrome?

The signs and symptoms of Jacobsen syndrome can vary. Most affected people have delayed development of motor skills and speech; cognitive impairment; and learning difficulties. Behavioral features have been reported and may include compulsive behavior; a short attention span; and distractibility.

How is cat eye syndrome diagnosed?

The diagnosis of CES is based on the presence of extra chromosomal material derived from chromosome 22q11. (see “Causes” above). It is possible that a diagnosis of CES may be suspected before birth (prenatally) based upon specialized tests, such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS).

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