WILLIAMS SYNDROME

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WILLIAMS-BEUREN SYNDROME aka williams syndrome 

Deletion of elastin gene in chromosome 7

De novo mutation

ELFIN FACIES

10 Rare Diseases That Are Almost Like Super Powers | Williams ...


SUPRAVALVULAR STENOSIS - can have pulmonary aretery stenosis, renal artery stenosis, thoracic aorta stenosis 

SHORT STATURE

ENDOCRINOPATHY- HYPERCALCEMIA, HYPERCALCIURIA, DM AND SUBCLINICAL HYPOTHYROIDISM

CAKUT- CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT

Impaired cognition and development accompanied by a friendly, social personality -- TALKATIVE/LOCACIOUS PERSONALITY

LOW IQ BUT HIGH VERBAL IQ

AXIAL HYPOTONIA BUT APPENDICULAR HYPERTONIA WITH INCREASED DTRs in lower limbs

DIAGNOSIS- BY FISH (FLOURESCENT IN SITU HYBRIDISATION) BY DETECTING THE DELETED ELASTIN GENE.

DIAGNOTIC CRITERIA BY AAP



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