Chromosome 22 ring
Overview
Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 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 22 Ring includes the 58 symptoms listed below: * Mental retardation * Reduced muscle tone * Lack of coordination * Congenital right-sided hydronephrosis * Facial dysmorphism * Down slanting space between eyelids * Highly arched palate * Undescended testes * Neurofibromatosis * Prominent nose * Widely spaced eyes * Drooping eyelids * Webbed fingers * Webbed toes * Long eyelashes * Bipolar disorder * Seizures * Spina bifida occulta with sacral dimple * Upslanting eyes * Large extremities * Gum hyperplasia * Elbow contractures * Narrow hands * Narrow feet * Webbed fingers * Webbed toes * Ocular colobomas * Thin ribs * Inability to completely close one eye * Dysphagia * Bipolar disorder * Cleft palate * Meningiomas * Imperforate anus * Thoracolumbar scoliosis * Widely spaced nipples * Tight heel cords * Excessive muscle tone * Small jaw * High forehead * Radial head hypoplasia * Hyperactivity * Cardiac defects * Small eyes * Underdeveloped toenails * Epicanthal folds * Large ears * Flat ears * Tooth enamel defects * Puffy feet * Umbilical hernia * Low set ears * Esotropia * Prominent back of skull * Hydroureter * Unsteady gait * Lack of speech development * Rigid metopic sutures
Causes
* Cardiac defects * Cleft palate * Down slanting space between eyelids * Drooping eyelids * Dysphagia * Epicanthal folds * Excessive muscle tone * High forehead * Highly arched palate * Hyperactivity * Lack of coordination * Large ears * Long eyelashes * Low set ears * Mental retardation * Prominent back of skull * Prominent nose * Reduced muscle tone * Seizures * Small eyes * Small jaw * Thin ribs * Umbilical hernia * Unsteady gait * Webbed fingers * Webbed fingers * Webbed toes * Webbed toes * Widely spaced eyes * Widely spaced nipples
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 22 Ring. This medical information about signs and symptoms for Chromosome 22 Ring has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 22 Ring signs or Chromosome 22 Ring symptoms. Furthermore, signs and symptoms of Chromosome 22 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 22 Ring symptoms.