Genetic Diseases Flashcards
Diagnostic criteria of CF
Clinical symptoms consistent with CF in at least one organ system AND evidence of CFTR dysfunction (elevated sweat Cl >60 mmol/l x 2, presence of 2 disease-causing mutation in CFTR, abnormal nasal potential difference)
Maple syrup urine disease
Branched chain ketoaciduria
Autosomal recessive metabolic disorder
Sweet smelling urine with an odor similar to that of maple syrup (ear wax)
Deteriorate after brith with severe brain damage
Hydrocephalus
OEIS Complex
Omphalocele
Exsyrophy
Imperforate anus
Spinal defects
Galactosemia
Inability to metabolise galactose Autosomal recessive genetic metabolic disorder Toxic levels of galactose-1-phosphate Hepatomegaly Cirrhosis Renal failure Cataracts Vomiting Seizure Hypoglycemia Lethargy Brain damage Ovarian failure
Beckwith-Wiedemann syndrome
Pediatric overgrowth disorder involving a predisposition to tumor development.
1 in 13700 F= M
Genetic imprinting and epigenetic process
Macrosomia, macroglossia, exomphalos
Hemihyperplasia, visceromegaly, embryonal tumors (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma)
Polyhydramnios and preterm
Hypoglycemia
Differentials of BWS
Simpson Golabi Behmel syndrome
Costello syndrome
Perlman syndrome
Sotos syndrome
What is sandifer syndrome
Paediatric medical disorder characterised by GI symptoms and associated neurological features. Associated with GORD.
18-36 months old. Mentally impaired. Spasmodic torticollis and dystonia. Nodding and rotation of the head, neck extension gurgling and writhing movements with hypotonia
Fahr’s syndrome
Idiopathic basal ganglia calcification
Autosomal dominant
Hypertelorism
Abnormally increased distance between two organs or bodily parts usually referring to increased distance between the orbits
Prune belly syndrome triad
Abdominal muscle deficiency
Anomalous development of the urinary tract
Bilateral cryptorchidism
