Genetic disorders and syndromes Flashcards
what is stickler’s syndrome
- AD
- defect in collagen synthesis
- joint, eye, and ears: joint hyper mobility, arthritis, cataract, retinal detachment, SNHL
Genes affected in stickler syndrome
COL2A1
COL11A1
COL11A2
COL9A
CHARGE
Coloboma Heart defect Atresia (Choanal) Retardation Gonad Ear - mondani malformation - wedge-shaped audio
CHD7 gene
bruton’s agammaglobulinemia
X-linked
no Ig’s
no tyrosine kinase
6mo male with sinus and lung infections
Wiskott-Aldrich
X-linked
lack of IgM
increased IgA and IgE
triad: thrombocytopenia + eczema + bacterial infections
Digeorge
CATCH 22:
Cardiac
Abnormal face
Thymic aplasia
Cleft palate
Hypoparathyroid
22 - chromosome affected
3rd and 4th branchial arches affected
what is mobius defect?
defect of hind brain
CN VI and VII affected
von Hippel-Lindau
HIPPEL
Hemangioblastoma - retina and CNS Increased risk of clear cell renal ca Pancreas and renal cysts Pheochromocytoma Endolymphatic sac tumor Loss of VHL gene
Sturge-Webber
STURGE
Seizures Trigeminal stain UMN atrophy Retardation Glaucoma Eye problems
osler-weber-rendu
telengiecasia
epistaxis
melkersson-rosenthal syndrome
facial swelling
facial weakness
tongue fissures/ angular chielitis
Pendred syndrome
chloride and ion transport ion perchloride test SNHL, vestibular aqueduct mondino malformation euthyroid goiter
VA(C)TER(L)
Vertebral anomalies
Anal atresia
Cardiac anomalies
Tracheal
Esophageal
Renal
Limbs
AD Syndromes
WANT CBS
Waarenberg
Apert
Neurofibromatosis
Treacher-Collins
Crouton
BOR
Stickler
Waarenberg
white forelock
telecanthus
SNHL
Warrenberg Genes
type I: PAX3
type II: MiTF
Apert/ Crouzon Genes
FGFR2
Achondroplasia
FGFR3
Cause of Treacher Collins
TCOF1 mutation
due to branchial arch 1 and 2 malformation
Branchio-oto-renal genes
AKA Melnick-Fraser
D8S87 and D8S165 (EYA1)
AR Syndromes
PUG JAR
Pendred
Usher
Goldenhaar
JLN
Pendred Syndrome
Pendrin mutation leading to iodine processing abnormality
euthyroid goiter, SNHL, mondini dysplasia, enlarged vestibular acqueduct
perchlorate discharge test
Goldenhar
hemifacial dysmorphia, vertebral anomalies, and range of external to middle ear abnormalities
upper lid coloboma
Usher
SNHL, vestibulopathy, ataxia, retinitis pigmentosa
Jarvell-Lange-Nielson
cardiac (prolonged QT)
b/l profound SNHL
XR syndromes
ANOW
Alport: renal disease
Norrie: NDP mutation, blindness
Oto-palato-digital: CHL
Wildervaank: fused spine, CN VI paralysis, SNHL