Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
The list of signs and symptoms mentioned in various sources for Bardet-Biedl syndrome, type 1 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
The phrase "signs of Bardet-Biedl syndrome, type 1" should, strictly speaking, refer only to those signs and symptoms of Bardet-Biedl syndrome, type 1 that are not readily apparent to the patient. The word "symptoms of Bardet-Biedl syndrome, type 1" is the more general meaning; see symptoms of Bardet-Biedl syndrome, type 1. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Bardet-Biedl syndrome, type 1. This medical information about signs and symptoms for Bardet-Biedl syndrome, type 1 has been gathered from various sources, may not be fully accurate, and may not be the full list of Bardet-Biedl syndrome, type 1 signs or Bardet-Biedl syndrome, type 1 symptoms. Furthermore, signs and symptoms of Bardet-Biedl syndrome, type 1 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 1 symptoms.