Genetics: Dysmorphology Flashcards
What are Lisch nodules and what disease are they associated with?
Hamartomas of the iris
Associated with NF1
What orthopedic sign is associated with NF1?
Osseous defects of the fibula
What vascular disorders are associated with NF1?
Hypertension- can develop at any age
What are the three main organs affected by Marfan syndrome?
Skeletal (pectus excavatum, pectus carinatum, scoliosis, flat arch)
Ocular (myopia, ectopia lentis)
Cardiovascular (mitral valve prolapse, aortic dissection)
What is the inheritance pattern of Marfan syndrome?
Autosomal dominant - mutation of fibrillin gene
What is the treatment/therapy for someone with Marfan’s syndrome?
Annual eye exam
Close cardiology follow up- losartan slows progression of aortic dissection
-Limit sports participation if the aortic root is enlarged
Which is the most common cause of inherited mental retardation?
Fragile X syndrome
What is the gene affected in Fragile X syndrome?
FMR1- mutation is a repeat >400 copies can occur (normal is 6-40)
What are the symptoms of fragile X in females/
Normal IQ
Most full mutations have social anxiety
30-50% exhibit hyperactivity
What do people with duchennes die of?
Cardiac failure
No dystrophin
How does Beckers’ differ from duchennes muscular dystrophy?
beckers is an altered dystrophin gene- but still produced. It causes a milder form of duchennes muscular dystrophy
Describe Beckwidth- Wiedemann Syndrome
Increased birth weight
Macroglossia
Hypoglycemia
Anterior Ear Creases
Associated with Wilms Tumor, organomegaly, hepatoblastomas, omphaloceles, and hemihyperplasia
What is the genetic cause of Beckwith-Wiedemann Syndrome?
Duplication of the insulin growth factor receptor (11p)
List physical characteristics of someone with fetal alcohol syndrome
Microcephaly, Low birth weight, failure to thrive, long smooth philtrum, thin upper lip, hearing loss, congenital heart defects
Short stature is one of them most common physical features
