Genetic and Metabolic Disorders — Flashcards

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

_____ is characterised by the presence of neuropsychiatric manifestations and hypopigmentation.

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

Holoprosencephaly is seen in _____ syndrome and fetal alcohol syndrome

Achondroplasia is characterized by _____ extremities with a relatively large head

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

_____ atresia is associated with Down syndrome

CHARGE syndrome consists of: C: _____ H: Heart defects A: Atresia choanae R: Retardation of growth and development G: Genitourinary anomalies E: Ear anomalies and hearing loss

The findings in Edwards Syndrome may be remembered with PRINCE Edward: - P_____- Rocker-bottom feet- Intellectual disability- Nondisjunction- Clenched fists with overlapping fingers- low-set Ears

Patients with Bloom Syndrome present with cafe-au-lait spots, rash from _____ exposure, and short stature