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1.

IMAGe syndrome

IMAGe syndrome is an acronym for the major findings of intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities (in males). Findings reported in individuals with a clinical and/or molecular diagnosis include: IUGR; Some type of skeletal abnormality (most commonly delayed bone age and short stature, and occasionally, metaphyseal and epiphyseal dysplasia of varying severity); Adrenal insufficiency often presenting in the first month of life as an adrenal crisis or (rarely) later in childhood with failure to thrive and recurrent vomiting; Genital abnormalities in males (cryptorchidism, micropenis, and hypospadias) but not in females. Hypotonia and developmental delay are reported in some individuals; cognitive outcome appears to be normal in the majority of individuals. [from GeneReviews]

MedGen UID:
337364
Concept ID:
C1846009
Disease or Syndrome
2.

Lamina lucida cleavage

The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. [from HPO]

MedGen UID:
867365
Concept ID:
C4021730
Finding

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