How many people in the world have floating Harbour syndrome?

How many people in the world have floating Harbour syndrome?

Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature.

What is Coffin Lowry Syndrome?

Definition. Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.

Is there a cure for Jackson Weiss syndrome?

Treatment for Jackson–Weiss syndrome can be done through surgery for some facial features and feet. Secondary complications such as hydrocephalus or cognitive impairment, can be averted via prompt surgery.

What causes Cdls?

What causes Cornelia de Lange syndrome? Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the condition can vary greatly depending on the type of mutation and which gene is affected.

What is short syndrome?

Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood.

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

What is Trichorhinophalangeal syndrome?

Trichorhinophalangeal Syndrome Type I (TRPS1) is an extremely rare inherited multisystem disorder characterized by fine, thin hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the “growing ends” (epiphyses) of the bones, especially in the hands and feet.

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 the life expectancy of someone with Cornelia de Lange syndrome?

Answer. Life expectancy is relatively normal for people with Cornelia de Lange syndrome and most affected children live well into adulthood. For example, one article mentioned a woman with Cornelia de Lange syndrome who lived to age 61 and an affected man who lived to age 54.

What does CdLS look like?

Common physical characteristics of CdLS include: Similar facial features (which may include an upturned nose, eyebrows that meet in the middle, long eyelashes and low-set ears) Gastroesophageal reflux disease (GERD), which can make eating painful and contribute to slow growth and other intestinal differences.