Congenital Problems Flashcards
Name the condition which is characterized by a condition missing fingers/toes or a groove or gap in the upper lip (cleft lip).
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
Define a syndrome.
A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder
Define dysmorphisms.
A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect.
Give 3 features of Down’s Syndrome (21).
Single palm crease, protruding tongue, cardiac defects.
Give 3 features of Edward’s Syndrome (18).
Mental disability. Low birthweight. Small abnormally shaped head.
Give 3 features of Patau’s Syndrome (13).
Mental disability, cleft lip/palate, cardiac defects.
What is the difference between in-frame and frameshift deletions/duplications.
In-frame - multiple of 3. Frameshift - not multiple of 3.
William’ syndrome is genetic disorder linked to gene deletion, characterized by…
Learning problems and mild intellectual disability.
Name 2 autosomal dominant conditions.
Noonan syndrome (heart defects, short stature). Neurofibromatosis type 1 (spots, freckling, skeletal dysplasia).
Name 2 autosomal recessive conditions.
Oculocutaneous albinism (reduced melanin in the skin, impaired vision, crossed eyes). Mucopolysaccharidosis type I (MPS) (develop heart valve abnormalities). Bardet-Biedl Syndrome (BBS) (problems with vision, obesity and extra fingers).
Give 2 X-linked recessive disorders.
Haemophilia (excessive bleeding). Duchenne Muscular Dystrophy (weakness, spinal deformity, difficulty standing).
Define myotonic dystrophy.
It’s a long term genetic disorder that affects muscle function. Symptoms include gradually worsening muscle loss and weakness. Muscles often contract and are unable to relax. Autosomal dominant.
