Chromosome 14q- proximal duplication


A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.


* Small eyes * Posterior angulation of ears * Downturned mouth * High nasal bridge * High vaulted palate * Narrow palate * Small head * Droopy eyelids * Fetal growth retardation * Mental retardation * Flat upper lip groove * Dislocated hip * Low hair line at back of neck * Large tongue * Absent forearm bone (radius) * Short stature * Cleft palate * Curved fifth finger * Abnormal forearm bone (radius) * Congenital heart anomaly * Kyphosis * Lordosis * Truncal obesity * Short eyelids * Short palpebral fissures * Wide rib cage


This medical information about signs and symptoms for Chromosome 14q, proximal duplication has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 14q, proximal duplication signs or Chromosome 14q, proximal duplication symptoms. Furthermore, signs and symptoms of Chromosome 14q, proximal 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, proximal duplication symptoms.