Potocki-Shaffer syndrome
Overview
Potocki-Shaffer syndrome: A very rare syndrome caused by the absence of a portion of chromosome 11p and characterized mainly by bone growths, enlarged fontanel and parietal foramina.
Symptoms
The list of signs and symptoms mentioned in various sources for Potocki-Shaffer syndrome includes the 4 symptoms listed below: * Multiple bone growths * Enlarged fontanelle * Enlarged parietal foramina * Developmental delay Note that Potocki-Shaffer syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Potocki-Shaffer syndrome signs may refer to those signs only noticable by a doctor.
Causes
NTDs may be isolated birth defects, may result from exposure to a teratogen, or may be part of a multiple malformation syndrome (for example, chromosomal abnormalities such as trisomy 18 or 13 syndrome). Isolated NTDs (those not due to a specific teratogen or associated with other malformations) are believed to be caused by a combination of genetic and environmental factors. Although most of the specific environmental triggers are unknown, recent research has identified a lack of folic acid in the mother's diet as one of the risk factors. The incidence of NTDs varies greatly among countries and by region in the United States. For example, the incidence is significantly higher in the British Isles and low in southern China and Japan. In the United States, North and South Carolina have at least twice the incidence of NTDs as most other parts of the country. These birth defects are also less common in blacks than in whites. Other Possible Causes of these Symptoms * Developmental delay
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Potocki-Shaffer syndrome. This medical information about signs and symptoms for Potocki-Shaffer syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Potocki-Shaffer syndrome signs or Potocki-Shaffer syndrome symptoms. Furthermore, signs and symptoms of Potocki-Shaffer syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Potocki-Shaffer syndrome symptoms.