A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
* Anteverted nostrils * Dorsiflexed great toe * Narrowed pulmonary artery * Pyloric narrowing * Short stature * Clubfoot * Upslanted fissures * Ear cartilage deficiency * Underdeveloped antihelix * Large fontanelle * Low-set ears * Enlarged head * Mental retardation * Narrow forehead * Prominent ears * Capillary hemangioma * Buildup of fluid inside skull * Wide set eyes * Bat ears * Bulging eyes * Narrowed pulmonary valve * Short nose * Small nose * Poorly muscled build
This medical information about signs and symptoms for Chromosome 1, trisomy 1q42 qter has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 1, trisomy 1q42 qter signs or Chromosome 1, trisomy 1q42 qter symptoms. Furthermore, signs and symptoms of Chromosome 1, trisomy 1q42 qter 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 1, trisomy 1q42 qter symptoms.