Genetic and Metabolic Disorders — Flashcards

_____ is an inherited disorder resulting in increased phosphate wasting at the proximal tubule; results in rickets-like presentation

_____ atresia is associated with Down syndrome

Phenylketonuria may present with _____ skin, eczema, intellectual disability, growth retardation, and seizures

Achondroplasia is characterized by _____ extremities with a relatively large head

Enzyme Replacement Therapy for _____ requires replacement of Iduronate Sulfatase

CHARGE syndrome consists of:C_____Heart defectsAtresia of choanaRetarded growth and developmentGenital anomaliesEar anomalies and hearing loss.

Holoprosencephaly is seen in _____ syndrome and fetal alcohol syndrome

_____ is characterised by presence of neuropsychiatric manifestations with albinism

_____ disease results in brittle, "kinky" hair, growth retardation, and hypotonia

_____ is an autosomal trisomy that is associated with cleft lip (face) and cleft palate (face).