Genetic disorders and syndromes

Question 1

what is stickler’s syndrome

Answer 1

• AD
• defect in collagen synthesis
• joint, eye, and ears: joint hyper mobility, arthritis, cataract, retinal detachment, SNHL

Question 2

Genes affected in stickler syndrome

Answer 2

COL2A1
COL11A1
COL11A2
COL9A

Question 3

CHARGE

Answer 3

Coloboma 
Heart defect
Atresia (Choanal)
Retardation 
Gonad 
Ear 
   - mondani malformation 
   - wedge-shaped audio

CHD7 gene

Question 4

bruton’s agammaglobulinemia

Answer 4

X-linked
no Ig’s
no tyrosine kinase

6mo male with sinus and lung infections

Question 5

Wiskott-Aldrich

Answer 5

X-linked
lack of IgM
increased IgA and IgE

triad: thrombocytopenia + eczema + bacterial infections

Question 6

Digeorge

Answer 6

CATCH 22:

Cardiac
Abnormal face
Thymic aplasia
Cleft palate
Hypoparathyroid

22 - chromosome affected

3rd and 4th branchial arches affected

Question 7

what is mobius defect?

Answer 7

defect of hind brain

CN VI and VII affected

Question 8

von Hippel-Lindau

Answer 8

HIPPEL

Hemangioblastoma - retina and CNS
Increased risk of clear cell renal ca
Pancreas and renal cysts
Pheochromocytoma
Endolymphatic sac tumor 
Loss of VHL gene

Question 9

Sturge-Webber

Answer 9

STURGE

Seizures
Trigeminal stain
UMN atrophy
Retardation
Glaucoma
Eye problems

Question 10

osler-weber-rendu

Answer 10

telengiecasia

epistaxis

Question 11

melkersson-rosenthal syndrome

Answer 11

facial swelling
facial weakness
tongue fissures/ angular chielitis

Question 12

Pendred syndrome

Answer 12

chloride and ion transport ion 
perchloride test
SNHL, vestibular aqueduct 
mondino malformation 
euthyroid goiter

Question 13

VA(C)TER(L)

Answer 13

Vertebral anomalies
Anal atresia
Cardiac anomalies
Tracheal
Esophageal
Renal
Limbs

Question 14

AD Syndromes

Answer 14

WANT CBS

Waarenberg
Apert
Neurofibromatosis
Treacher-Collins
Crouton
BOR
Stickler

Question 15

Waarenberg

Answer 15

white forelock
telecanthus
SNHL

Question 16

Warrenberg Genes

Answer 16

type I: PAX3
type II: MiTF

Question 17

Apert/ Crouzon Genes

Answer 17

FGFR2

Question 18

Achondroplasia

Answer 18

FGFR3

Question 19

Cause of Treacher Collins

Answer 19

TCOF1 mutation

due to branchial arch 1 and 2 malformation

Question 20

Branchio-oto-renal genes
AKA Melnick-Fraser

Answer 20

D8S87 and D8S165 (EYA1)

Question 21

AR Syndromes

Answer 21

PUG JAR

Pendred
Usher
Goldenhaar
JLN

Question 22

Pendred Syndrome

Answer 22

Pendrin mutation leading to iodine processing abnormality

euthyroid goiter, SNHL, mondini dysplasia, enlarged vestibular acqueduct

perchlorate discharge test

Question 23

Goldenhar

Answer 23

hemifacial dysmorphia, vertebral anomalies, and range of external to middle ear abnormalities

upper lid coloboma

Question 24

Usher

Answer 24

SNHL, vestibulopathy, ataxia, retinitis pigmentosa

Question 25

Jarvell-Lange-Nielson

Answer 25

cardiac (prolonged QT)
b/l profound SNHL

Question 26

XR syndromes

Answer 26

ANOW

Alport: renal disease
Norrie: NDP mutation, blindness
Oto-palato-digital: CHL
Wildervaank: fused spine, CN VI paralysis, SNHL