Barakat syndrome, also known as Hypoparathyroidism, Sensorineural deafness, and Renal disease (HDR) syndrome, is a heterogenous, autosomal dominant rare genetic disorder with incomplete penetrance and variable expressivity. It is primarily
Category: Disorders
Kawashima Tsuji syndromeKawashima Tsuji syndrome
Kawashima Tsuji syndrome, or Microcephaly-deafness-intellectual disability syndrome, or simply Microcephaly-deafness syndrome, is an extremely rare genetic disorder characterized by microcephaly, deafness, intellectual deficit, speech delay, short height, and facial dysmorphism
Disorders Nursing Encyclopedia
Colovascular fistulaColovascular fistula
A colovascular fistula is an abnormal connection that forms between the colon and another blood vessel. Signs and Symptoms Causes While most colovascular fistulas are acquired conditions caused by factors
Disorders Nursing Encyclopedia
Nathalie syndromeNathalie syndrome
Nathalie syndrome, also known as, Deafness-cataract-skeletal anomalies-cardiomyopathy syndrome or Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome, is a rare, genetic developmental defect during embryogenesis disorder. The disorder is characterized by sensorineural hearing
Disorders Nursing Encyclopedia
Boder syndromeBoder syndrome
Boder syndrome, or otherwise known as Odontoma-dysphagia syndrome, is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Occasionally, cardiac, hepatic, and renal involvement has
Disorders Nursing Encyclopedia
CraniorhinyCraniorhiny
Craniorhiny is a rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, agenesis of the nasolacrimal ducts, anteverted nostrils, hirsutism at base of nose, and bilateral, symmetrical
Disorders Nursing Encyclopedia
Anorexia NervosaAnorexia Nervosa
Anorexia nervosa is an eating disorder characterized by extremely low body weight, distorted body image and an obsessive fear of gaining weight. The term anorexia nervosa was established in 1873
Disorders Nursing Encyclopedia