Genetic/childhood diseases Flashcards
Patau’s syndrome
A: Trisomy 13
S: Usually miscarriage Or death within a week.
Microcephalic, small eyes, Cleft lip/palate, Polydactyly , Scalp lesions.
D: Confirmed by genetic testing.
T: Rarely survive, comfort and individual needs. RTFD.
Edward’s syndrome
A: Trisomy 18
S: Micrognathia, Low-set ears, Rocker bottom feet, Overlapping of fingers
D: Genetic testing.
T: RTFD
Fragile X syndrome
A: X-linked recessive.
S: Learning difficulties, Macrocephaly, Long face, Large everted ears, Macro-orchidism.
D: Amniocentesis/CVS during pregnancy.
T: Behavioral therapy and special education.
Turner’s syndrome
A: 45, X. Second X chromosome absent.
S: Short stature, WEBBED NECK, widely spaced nipples, wide carrying angle, lymphoedema of hands/feet, normal intellectual development. They have an increased risk of infertility, ameonorrhoea, coarctation of aortam, bicuspid aortic valve, horse-shoe kidney.
D: Amniocentesis/CVS during pregnancy.
T: Sex characteristics induced with oestrogen therapy, height induced by growth hormone therapy.
Klinefelter’s syndrome
A: 47, XXY, an extra x chromosome.
S: Tall stature, gynaecomastia, hypogonadasm, poor growth of facial/body hair. They have an increased risk of infertility, mild learning difficulties, germ cell tumours and osteoperosis.
D: Amniocentesis/CVS during pregnancy.
T: Optional testosterone treatment to achieve a masculine appearance.
XYY (Jacob’s) syndrome
A: 47, XYY.
S: Increased growth velocity (end up taller), normal sexual development and fertility with normal IQ.
D: Genetic testing
T: None needed.
Freidrich’s ataxia
A: Autosomal recessive (GAA repeats on FXN gene)
S: Usually at 5-15YO
Muscle weakness in arms and legs, loss of coordination, vision & hearing impairment, slurred speech, scoliosis, high plantar arches, diabetes (in some), cardiac problems (common).
Loss of proprioception, cerebellar (nystagmus, fast saccadic eye movements)
D: Genetic testing confirms.
T: Surgery, assisted technology, ACE inhibitors (for heart issues). Nicotinamide, Ibedenone.
Huntington’s Disease
A: Trinucleotide repeat (CAG) due to a deletion in the Huntingtin gene on chromosome 4.
S: Usually begin in 30’s. Starts with personality changes, memory issues, decreased executive function and slower sacchadic eye movements.
Progress to depression/anxiety, irritability/aggression, OCD, psychosis, choreiform movements, dystonia, falls, dysphagia, dysphasia, dementia.
D: Genetic testing.
T: No cure.
For chorea - tetrabenazine
For psychosis/depression - SSRI’s, antipsychotics, benzodiazapenes.
Duchenne Muscular Dystrophy
A: Caused by a mutation in the dystrophin gene - x-linked recessive.
S: Onset in early years. Delay in motor milestones, clumsy, waddling gate, proximal muscle weakness. Usually lose ability to walk by 8-12 YO. Pseudohypertrophy of calves, scoliosis. GOWERS SIGN (using hands and arms to “walk up” own body from squatting position).
D: Muscle biopsy shows absent dystrophin. High plasma creatine kinase (>5000).
T: No cure, physiotherapy, respiratory support, corticosteroids may improve quality of life.
Cri du chat (Lejuene’s)
A: Chromosome 5p deletion.
S: CRY SIMILAR TO MEOW OF CAT. Feeding problems, low birth weight, poor golf, severe cognitive and motor delay. Behavioral problems, facial features vary but are different, Wide eyes, small head and jaw.
D:Clinical, genetic testing.
T: speech, physical and occupational therapists.
Williams syndrome (Williams-Beuren)
A: Gene deletions from long arm of chromosome 7.
S: ELFIN FACIAL FEATURES (small and mischievous) ABSOLUTE PITCH.
Short stature, Learning difficulties, Friendly, extrovert personality, Transient neonatal hypercalcaemia, Supravalvular aortic stenosis.
D: Clinical then genetic.
T: Treat hypercalcaemia, behavioral, cardiovascular referral.
Noonan syndrome
A: “Male version of Tuner’s syndrome” but has different genetic causes. (PTPN11, RAF1, SOS1).
S: Webbed neck, Pectus excavatum,Short stature, Pulmonary stenosis
D: Clinical features then genetic testing.
T: Varies.
Prader-Willi syndrome
A: Chromosome 15q partial deletion.
S: Hypotonia, Hypogonadism, Obesity CHRONIC FEELING OF HUNGER CONSTANTLY.
D: clinical then genetic.
T: Speech, physical and occupational therapy, GH injections, obesity treatment.
Angelman syndrome
A: Deletion to genes on chromosome 15.
S; FREQUENT LAUGHING AND SMILING, OVERLY HAPPY DEMEANOR, severe intellectual and developmental disability, sleep disturbance, jerky movements (hand-flapping), speech impairment, balance disorders.
D: Clinical then genetic.
T: anitconvulsants, melatonin for sleep issues.
Pierre-Robin syndrome
A: anomalies on chromosomes 2, 11 or 17.
S: Micrognathia, Posterior displacement of the tongue (may result in upper airway obstruction), Cleft palate.
Has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems.
D: Clinical
T: Place on side to stop obstruction by tongue, mandibular distraction.
