Genetics Flashcards
Mneumonic for DiGeorge syndrome findings
CATCH-22
Conotruncal cardiac anomalies
Abnormal facies
Thymus hypoplasia
Cleft palate
Hypocalcemia
22q11.2 microdeletion
CHARGE syndrome
Coloboma of the eye
Heart defects
Atresia choanae
Retardation of growth and/or development
GU malformation
Ear abnormalities and/or deafness
Also called Hall-Hittner syndrome
Can also have palatal differences, facial palsy, developmental differences and immunodeficiency
How to tell between Turner and Noonan syndromes
Turner XO, Noonan not chromosomal
Turner only in females
Turner coarctation of aorta, infertility
Realistically need genetic testing
Triad of Sturge Weber syndrome
Port wine stain
Glaucoma
Leptomeningeal capillary-venous malformation
Familial Mediterranean fever inheritance, findings and treatment
Autosomal recessive
Recurrent attacks of fever (1-3 days) and serositis (peritonitis, pleuritis, pericarditis, synovitis), arthritis, or erysipelas like rash (overlies ankle or dorsum of the foot)
Colchicine decreases the frequency, duration, and intensity of flares
PHACES syndrome acronym
Posterior fossa brain malformation
Hemangiomas (large, segmental facial lesions)
Arterial anomalies
Cardiac anomalies and coarctation of the aorta
Eye abnormalities and endocrine abnormalities
Sternal cleft, supraumbilical raphe, or both
Investigations needed for PHACES
MRI and MRA of head and neck
CTA of brain, neck, and chest
Eye examinations (glaucoma, cataracts, microphthalmia, optic nerve hypoplasia)
Ear exams and hearing testing
Echocardiogram
Skin findings in tuberous sclerosis
Angiofibromas
Ash leaf spots
Ungual fibromas
Shagreen patches
Russel Silver findings
Triangular face, prominent forehead, downturned corners of mouth, severe IUGR, growth restriction post natally, café au lait spots, hemihypertrophy
Can also have feeding difficulties, developmental delays, OSA
Wiskott-Aldrich sydrome inheritance, findings, treatment
X-linked recessive
Features: Atopic dermatitis, thrombocytopenic purpura with normal appearing cells but small defective platelets, and susceptibility to infection
Treatment: immunoglobulin replacement, killed vaccines, aggressive eczema and infection management, stem cell transplant
Incontinentia pigmenti inheritance and findings
X linked dominant disorder
4 progressive stages of skin manifestations (vesicular, verroucus, hypopigmentation, hyperpigmentation)
Peutz Jeghers inheritance and findings
Autosomal dominant
Multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentation*, and an increased risk of GI and non GI cancer
VACTERL
Sporadic disorder
Vertebral
Anorectal
Cardiac (VSD)
Tracheoesophageal (TEF most common)
Renal
Limb
Trisomy 13
Patau syndrome
Early lethality, median 12 days
Cleft lip
Flexed fingers with postaxial polydactyly
Ocular hypotelorism, microphthalmia
Low set, malformed ears
Microcephaly with cerebral malformation (esp. holoprosencephaly)
Cardiac malformations
Scalp defects
Hypoplastic or absent ribs
Visceral and genital anomalies
Pompe disease
Glycogen storage disease type 2 or acid maltase deficiency
Autosomal recessive
Infantile form is lethal without enzyme replacement
Presents in first day to weeks of life
Hypotonia, generalized muscle weakness, feeding difficulties, macroglossia, hepatomegaly, hypertrophic cardiomyopathy
Late onset is muscle weakness and resp failure
