AREDYLD

Synonyms

3

Overview

AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes. A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes. It was characterized in 1983.

Symptoms

  • Low birth weight
  • Sparse hair
  • Mandibular prognathism
  • Peculiar nose
  • Deciduous teeth dysplasia
  • Abnormal hair quantity
  • Abnormal nasal morphology
  • Abnormality of dental enamel
  • Abnormality of pelvic girdle bone morphology
  • Abnormality of the philtrum
  • Abnormality of the tragus
  • Abnormality of the ureter
  • Advanced eruption of teeth
  • Aplasia/Hypoplasia of the eyebrow
  • Brachydactyly syndrome
  • Breast aplasia
  • Craniofacial hyperostosis
  • Decreased body weight
  • Hepatomegaly
  • Intrauterine growth retardation
  • Lipoatrophy
  • Low-set, posteriorly rotated ears
  • Mandibular prognathia
  • Narrow mouth
  • Scoliosis
  • Short stature
  • Splenomegaly
  • Type I diabetes mellitus
  • Type II diabetes mellitus
  • Upslanted palpebral fissure+

Causes

  • Obesity (even an increased percentage of body fat primarily in the abdominal region); risk decreases with weight and drug therapy
  • Lack of physical activity
  • History of GDM
  • Hypertension
  • Black, Hispanic, Pacific Islander, Asian American, Native American origin
  • Strong family history of diabetes
  • Oolder than age 45
  • high-density lipoprotein cholesterol of less than 35 or triglyceride of greater than 250
  • Seriously impaired glucose tolerance (IGT) test.

Treatment

Effective treatment normalizes blood glucose and decreases complications using insulin replacement, diet, and exercise. Current forms of insulin replacement include single-dose, mixed-dose, split-mixed dose, and multiple-dose regimens. The multiple-dose regimens may use an insulin pump. Insulin may be rapid acting, intermediate acting, long acting, or a combination of rapid acting and intermediate acting; it may be standard or purified, and it may be derived from beef, pork, or human sources. Purified human insulin is used commonly today. Pancreas transplantation is experimental and requires chronic immunosuppression.

Resources

  • NIH