Chromosome 19 ring
Overview
Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 19 ring syndrome includes the 20 symptoms listed below: * Small head * High forehead * Low set ears * Posteriorly rotated ears * Widely spaced eyes * High nasal bridge * Prominent philtrum * Redundant neck skin * Clubfoot * Syndactyly * Joint contractures * Cutis laxa * Pulmonic stenosis * Hypoplastic right ventricle * Coronary artery fistula * Growth retardation * Motor retardation * Mental retardation * Deafness * Autism
Causes
* Clubfoot * Deafness * Growth retardation * High forehead * High nasal bridge * Low set ears * Mental retardation * Motor retardation * Posteriorly rotated ears * Redundant neck skin * Small head * Syndactyly * Widely spaced eyes
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 19 ring syndrome. This medical information about signs and symptoms for Chromosome 19 ring syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 19 ring syndrome signs or Chromosome 19 ring syndrome symptoms. Furthermore, signs and symptoms of Chromosome 19 ring 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 Chromosome 19 ring syndrome symptoms.