Syndromes Flashcards
AV Canal Defect
Trisomy 21
Bicuspid Ao Valve or Aortic Coarctation
Turner Syndrome
TOF or Truncus Arteriosus
DiGeorge Syndrome (22q11del)
Supravalvular Ao Stenosis
William’s Syndrome
Dilated Aortic Root or Mitral Valve Prolapse
Marfan’s Syndrome
Limb/thumb Anomalies, ASD +/- VSD
Holt-Oram
Muscle weakness, ataxia, cardiomyopathy
Friedrich’s Ataxia
Pulmonic stenosis, webbed neck, short stature
Noonan Syndrome
- Severe mucocutaneous bleeding in 1st 3 years of life
- Normal PT/PTT, delayed bleeding time
- Normal platelet # and morphology
Glanzmann’s Thrombasthenia:
- AR
- GIIb/IIIa deficiency
- Rx: platelet transfusion
- Severe mucocutaneous bleeding in 1st 3 years of life
- Giant platelets +/- thrombocytopenia
Bernard-Soulier Syndrome:
- AR
- GP1b, V, IX defect - can’t bind vWF
- Thrombocytopenia
- Absent radius
TAR
This inheritance typically involves genes encoding structural proteins, transcription factors, plus others
AD
- White forelock
- SNHL
- Abn pigmentation
_ Hand anomalies
Waardenberg Syndrome
- Type 3 - + Hirschsprung disease
- Genes: PAX3, MITF, EDN3, EDNRB, SOX10
- AD
- Abnormal upper to lower body ratio
- Tall stature
- Pectus deformity
- Scoliosis
- Arachnodactyly
- High arched palate
MARFAN SYNDROME
- Ocular - lens dislocation, myopia
- Cardiac - aortic root dilation, risk of Ao rupture, mitral valve prolapse
- Spinal dural ectasia
- Gene: Fibrillin on chromosome 15
- Marfan 2 and Loeys-Dietz syndrome have mutations in gene for TGF beta receptors 1 and 2
- AD
- > 6 cafe-au-lait spots (>5mm pre-pubertal, >15mm post-pubertal)
- 2 + neurofibromas
- 2+ Lisch nodules
- Inguinal or axillary freckling
- Optic pathway tumor
- Osseous lesion: sphenoid wing dysplasia or thinning of long bone cortex
- 1st degree relative with NF
- Diagnosis by 2 or more of the above findings
NEUROFIBROMATOSIS
- AD
This inheritance typically involves genes encoding enzymes
AR
- 1:12000 newborns
- Persistent elevation in phe levels
- mutation in phenylalanine hydroxylase gene
PHENYLKETONURIA
- AR
- Lysosomal storage disease (mucopolysaccaridosis)
- Coarse facies
- Corneal clouding
- Organomegaly
- Cognitive loss
- Mutation in alpha-1 iduronidase gene
HURLER SYNDROME
- AR
- Progressive symmetric myopathy
- Proximal weakness>distall weakness
- Calf hypertrophy
- Gower manuever
- Symptoms prior to 5 years of age
- Unable to walk by age 13
- Carrier females may develop cardiomyopathy
DUCHENNE MUSCULAR DYSTROPHY
- X-linked recessive
- Dystrophin gene on Xp, 65% deletions, 30% point mutations
- CK 10x normal
- Muscle biopsy - fiber size variation, necrosis, minimal or absent dystrophin staining
- Lysosomal storage disease
- Coarse facies
- Hump on back
- Short stature
- Gibbus
- Cognitive loss (variable)
- Organomegaly
- Clear cornea
HUNTER SYNDROME
- X-linked recessive
- Progressive neurological disorder in girls
- Hand wringing, breath holding
- Seizures
- Males may not survive pregnancy or be very severely affected
- Atypical Rett Syndrome may present as autism
RETT SYNDROME
- X-linked dominant
- Gene: MECP2 at Xq28
- Lactic acidosis
- Mutation in gene encoding tRNAs
- Myopathy with ragged red fibers
- Dilated or hypertrophic cardiomyopathy
MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY
- Lactic acidosis
- Early onset strokes
- Myopathy
- Mutation in tRNA genes in mitochondrial genome
MITOCHONDRIAL ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE (MELAS)
Inheritance of cleft lip and palate
Complex inheritance