Bardet-Biedl syndrome 12
Overview
Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27
Symptoms
The list of signs and symptoms mentioned in various sources for Bardet-Biedl syndrome, type 12 includes the 39 symptoms listed below: * Obesity * Short stature * Mental deficiency * Low verbal I.Q. * Low performance I.Q. * Inappropriate mannerisms * Visual impairment * Retinal dystrophy * Myopia * Astigmatism * Nystagmus * Glaucoma * Cataracts * Aphakia * Retinitis pigmentosa * Postaxial polydactyly * Webbed fingers * Webbed toes * Short fingers * Broad feet * Short feet * Small penis * Small testes * Abnormal color vision * Abnormal kidney structure * Abnormal kidney function * Degeneration of retina * Hypogonadism * Delayed sexual development * Urogenital sinuses * Ectopic urethra * Septate vagina * Uterus duplex * Underdeveloped uterus * Underdeveloped ovaries * Underdeveloped fallopian tubes * Liver fibrosis * Menstrual irregularities * Diabetes mellitus
Diagnosis
The phrase "signs of Bardet-Biedl syndrome, type 12" should, strictly speaking, refer only to those signs and symptoms of Bardet-Biedl syndrome, type 12 that are not readily apparent to the patient. The word "symptoms of Bardet-Biedl syndrome, type 12" is the more general meaning; see symptoms of Bardet-Biedl syndrome, type 12. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Bardet-Biedl syndrome, type 12. This medical information about signs and symptoms for Bardet-Biedl syndrome, type 12 has been gathered from various sources, may not be fully accurate, and may not be the full list of Bardet-Biedl syndrome, type 12 signs or Bardet-Biedl syndrome, type 12 symptoms. Furthermore, signs and symptoms of Bardet-Biedl syndrome, type 12 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 Bardet-Biedl syndrome, type 12 symptoms.