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Items: 3

1.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013). [from OMIM]

MedGen UID:
811623
Concept ID:
C3715192
Disease or Syndrome
2.

Colorectal cancer 10

MedGen UID:
436445
Concept ID:
C2675481
Finding
3.

Werner syndrome

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [from GeneReviews]

MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
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