Chromosome 14q- terminal duplication
Overview
A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
Symptoms
* Short stature * Mental retardation * Large head * Widely spaced eyes * Fluid buildup in skull * Reduced ear cartilage * Anteverted nostrils * Large fontanel * Prominent ears * Narrow forehead * Protruding eyes * Narrow pulmonary artery * Narrow pulmonary valve * Clubfoot * Pyloric stenosis * Reduced musculature
Diagnosis
This medical information about signs and symptoms for Chromosome 14q, terminal duplication has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 14q, terminal duplication signs or Chromosome 14q, terminal duplication symptoms. Furthermore, signs and symptoms of Chromosome 14q, terminal duplication 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 Chromosome 14q, terminal duplication symptoms.