lots and lots and lots of conditions

Question 1

Stickler syndrome gene, MOI, and clinical features

Answer 1

COL2A1 (most common) AD

Cleft palette, micrognathia, myopia, retinal detacchment, hypermobile joints, and degenerative arthritis

Question 2

Muscle weakening disorder characterized by presence of rod-shaped structures in muscle fibers

Answer 2

Nemaline myopathy

Question 3

Available treatment for Nemaline Myopathy

Answer 3

physio and occupational therapy

Question 4

Most common genetic mechanism of Russel Silver (60% of cases)

Answer 4

loss of methylation on the paternal allele at imprinting control region 1 (ICR1) on chromosome 11p15

Question 5

UPD observed in Russell Silver

Answer 5

maternal UPD of chromosome 7

Observed in 10% of cases; loss of paternal methylation ICR1 region on 11p15 most common cause

Question 6

Condition associated with retinitis pigmentosa, polydactyly, obesity, and small undescended testes

Answer 6

BBS1- bardet-biedl syndrome

Question 7

developmental delays, cardiovascular problems, unique facial features such as a broad forehead, and a very outgoing, social personality, often referred to as a ‘cocktail party’ personality.

Answer 7

Williams syndrome

Question 8

developmental delays, particularly in speech and language, along with physical characteristics such as a long face, large ears, and macroorchidism in post-pubertal males.

Answer 8

Fragile X

Question 9

neonatal hypotonia, feeding difficulties in infancy, and later development of hyperphagia and obesity.

Answer 9

Prader-Willi

Question 10

intellectual disability, facial dysmorphism such as epicanthic folds and flat facial profile, and may also include hypotonia.

Answer 10

T21