What is freckle syndrome?

Centrofacial lentiginosis is an extremely rare inherited disorder characterized by the presence of multiple, small black or dark brown “freckle-like” spots (lentigines) appearing on the skin of the face. Many affected individuals also experience intellectual disability.

What is Noonan LEOPARD syndrome?

Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD syndrome, is a very rare inherited disorder that is characterised by skin, heart, ear, genital, head and facial abnormalities. It is one of a group of syndromes collectively known as RASopathies.

What does LEOPARD syndrome stand for?

LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome: (L)entigines – dark spots on the skin. (E)lectrocardiographic conduction defects – abnormalities of the electrical activity of the heart.

What is Cardiofaciocutaneous syndrome?

Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; relatively large head (relative macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual …

What is Watson’s disease?

Watson syndrome is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.

What causes Costello Syndrome?

Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).

What is Meier Gorlin syndrome?

Meier-Gorlin syndrome (MGS) is a rare genetic disorder. The main features are small ears (microtia), absent or small kneecaps (patellae) and short stature. MGS should be considered in children with at least two of these three features.

How is Noonan syndrome with multiple lentigines different from other disorders?

As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life.

What happens to the heart with multiple lentigines?

Of the people with Noonan syndrome with multiple lentigines who have heart defects, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. The hypertrophic cardiomyopathy most often affects the lower left chamber of the heart ( the left ventricle ).

What happens to your skin when you have lentigines?

Affected individuals may have thousands of small dark brown skin spots by the time they reach puberty. Unlike freckles, the appearance of lentigines has nothing to do with sun exposure. In addition to lentigines, people with this condition may have lighter brown skin spots called café-au-lait spots.

What’s the difference between freckles and lentigines?

Unlike freckles, the appearance of lentigines has nothing to do with sun exposure. In addition to lentigines, people with this condition may have lighter brown skin spots called café-au-lait spots.