Chromosome 17 ring
Overview
Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 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 17 ring includes the 23 symptoms listed below: * Small head * Small jaw * Preauricular fistula * Retinitis punctata albicans * Drooping upper eyelid * Flat nasal bridge * Anteverted nostrils * Epicanthal folds * Small mouth * Thick lips * Clinodactyly * Syndactyly * Transverse palmar creases * Increased number of ulnar loops * Reduced muscle tone * Café-au-lait spots * Seizures * Flexor spasms * Minor genital abnormalities * Growth retardation * Mental retardation * Deafness * Behavioral disorders
Causes
* Anteverted nostrils * Clinodactyly * Deafness * Drooping upper eyelid * Epicanthal folds * Flat nasal bridge * Growth retardation * Mental retardation * Reduced muscle tone * Seizures * Small head * Small jaw * Small mouth * Syndactyly
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 17 ring. This medical information about signs and symptoms for Chromosome 17 ring has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 17 ring signs or Chromosome 17 ring symptoms. Furthermore, signs and symptoms of Chromosome 17 ring 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 17 ring symptoms.