Genetic Diseases Flashcards

1
Q

Diagnostic criteria of CF

A

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)

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2
Q

Maple syrup urine disease

A

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

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3
Q

OEIS Complex

A

Omphalocele
Exsyrophy
Imperforate anus
Spinal defects

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4
Q

Galactosemia

A
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
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5
Q

Beckwith-Wiedemann syndrome

A

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

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6
Q

Differentials of BWS

A

Simpson Golabi Behmel syndrome
Costello syndrome
Perlman syndrome
Sotos syndrome

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7
Q

What is sandifer syndrome

A

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

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8
Q

Fahr’s syndrome

A

Idiopathic basal ganglia calcification

Autosomal dominant

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9
Q

Hypertelorism

A

Abnormally increased distance between two organs or bodily parts usually referring to increased distance between the orbits

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10
Q

Prune belly syndrome triad

A

Abdominal muscle deficiency

Anomalous development of the urinary tract

Bilateral cryptorchidism

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