Genetic Syndromes

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Genetic Disorders

Ved Marcela Sofia Cerda Sada

Genetic Syndromes

Sex Chromossome Disorders

Fragile X Syndrome

Mild-moderate MR; ADHD and/or autism

Macroorchidism

High-arched palate

Proeminent jaw, forehead and nasal bridge; long, thin face

Most common cause of MR in boys

X-linked; anticipation disorder

Klinefelter

Tx: testosterone in adolescence

behavioural/psychiatric disorders

hypogonadism ==> gynecomastia, lack facial hair

Tall, long limbs, slim, underweight

1:1000; increases with maternal age

47, XXY

Turner Syndrome

Tx:

Estrogen in adolescence

GH for short stature

Cardiac defects

bicuspid aortic valve, CoAo

streak ovaries

mild MR-normal IQ

45,X0

Autossomic

Noonan Syndrome

Delayed puberty

Right-sided CHD ==> pulmonary sternosis

MR in 25%

Phenotype similar to Turner's

Autossomic dominant inheritance with variable expression

Angelman

Uncrontrollable laughter

Severe MR, seizures, tremoulesness

Lack of maternally 15q11

Prader-Willi

Developmental delay

H30

Obesity (obssesive hyperphagia)

Hypogonadism

Hypotonia

Lack of paternal 15q11

DiGeorge Syndrome

CATCH 22

22q11 microdeletion

Hypoparathyroidism

Cognitive impairment

Thymic hypoplasia

Anomalies

Cyanotic CHD

2nd most common genetic diagnosis

Microdeletions of 22q11

Trissomy 13

Severe IUGR, Proound MR

Midline anomalies, cleft lip/palate

Microcephaly (sloping forehead), microphtalmia

1:10.000

Patau Syndrome

Trissomy 18

90% die in 1st year

Profound MR

Cardiac defects ==> 60%

Cleft lip/palate; micrognathia

microcephaly (proeminent occipital), microphtalmia, coloboma of iris

1:6000;

Edwards Syndrome

Trissomy 21

Low IQ / developmental delay

Hypothyroidism

1% risk of leukemia

Cardiac defects ==> 40% AVSD

overall 1:700; rises with maternal age (5% by 45)

Down's Syndrome