in Illinois at “The Cradle”
Baby K is a sweet, 2 month old, Hispanic baby girl who was born with Apert’s Syndrome. Although she has a cleft palate, she has taken all her feedings by bottle with a special nipple. K is currently receiving feedings by NG tube as she is hospitalized for a respiratory illness. She is also receiving supplemental oxygen. It is not known at this time if K would continue to need tube feedings and/or supplemental oxygen. Her future medical needs would include neurology follow up, and plastic surgery for her palate, skull and fingers. She’ll also need physical therapy to help her reach her full potential.
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Reviewed February 2008
What is Apert syndrome?
Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).
How common is Apert syndrome?
Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.
What genes are related to Apert syndrome?
Mutations in the FGFR2gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.
Read more about the FGFR2gene.
How do people inherit Apert syndrome?
Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation.
information obtained from: http://ghr.nlm.nih.gov/condition/apert-syndrome
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.
Reviewed: February 2008
Published: October 21, 2013
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