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Mnemonic-Of-Some-Rare-Genetic-Disease-1.pdf
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4/10/2014 SYNDROMES LISTSYNDROMES LIST
Beckwith –Widemann syndrome
Klinefelter’s syndrome
Marfan’s syndrome
Soto’s syndrome
SYNDROMES
What are the features of Beckwith –Widemann syndrome ?
(Mnemonics – BECKWITH A – I )
B Birth weight - Large for date
E Eyes prominent
Erythrocytes increased - Polycythemia
C Chromosome 11 p15 Partial duplication of chromosome
11p
Clefts in the ear lobes
K Kidney enlarged
W Wilm’s tumour
I Insulin increased- Hyperinsulinism
T Tumours- Increased risk of tumours
Tongue enlarged (Macroglossia)
H Hemihypertrophy
Hypoglycemia- severe
Head circumference decreased- Microcephaly
A Asymmetry
Abnormal transverse crease in the pinna of the ear
B Birth length more
C crown –heel length is more than 97 th percentile
D Dysmorpism
E Exopmphalos . , Ompholocele
F Facial nevus flammeus
G Gonodablastoma
H Hepatoblastoma
I Incraese in organ size -Visceromegaly (Liver and
kidneys)
KLINEFELTER’S SYNDROME
INCIDENCE 1 : 1000 IN LOW BIRTH BAABIES\
Associated with advanced maternal age
Dermatoglyphics – small pattern on the digits with a low ridge count
There is a n increased risk for severity of mental retardation and impairment of virilisation with increasing number
of X chromosomes
X chromosome maternal in origin 67%
Paternal origin in 33%
47 XXY
48 XXYY
Diagnosis is made usually after puberty
Presents with mental retardation, psychosocial problems. School adjustment problems , defects in sexual
development\
Klinefelter’s syndrome is associated with the following
Hypogonadism
http://www.lakshmanasbook.com/lens2/syndromes.htm 1/9
, 4/10/2014 SYNDROMES LIST
2 ) What are the features of KLINEFELTER’S SYNDROME
(Mnemonics - KLINEFELTER’S)
K Karyotyping- 47 XXY
L Long bones –epiphysial fusion delayed due to decreased
testosterone
I Intelligence- Mental subnormality
N Non dysjunction (Meiotic) of X chromosome during parental
gametogenesis
E Enuchoidal,
F Feminising features – Gynaecomastia,
E Epiphysial fusion delayed due to decreased testosterone
L Lower segment > upper segment
Long legs
Learning problems
T Tall stature
Testis pea sized, small ,firm ,cryptorchidism ,hypospadiasis
may occur
E Elevated plasma and urinary gonadotropins
R Ridge count low
S Secondary sexual characters –loss
Sterilty
Sperm – Azoospermia
School adjustment problems
What are the features of Marfan’s syndrome ?
(Mnemonics - MARFAN’S A - M )
M Mitral VALVE prolapse /regurgitation
A Arachnodactyly.
R Ratio of upper segment to lower segment is
decreased
F Father’s age advanced –increases the risk
fibrillin gene on chromosome 15- Mutation
A Aortic regurgitation
N Narrow maxilla
S Subluxation of lens,
A Autosomal dominant
Arachnodactyly.
Arm span > height
B Built- Tall stature
Blue sclera
C Chest wall deformities- pectus excavatum , pectus
carinatum
Collagen synthesis is defective
D Dislocation of lens –upwards and outward
Dental crowding
Dolichostenomelia-(limbs are long and thin)
E Enuchoidal,
F Flat cornea
fibrillin gene on chromosome 15- Mutation
G Genu recurvatum
H High arched palate
http://www.lakshmanasbook.com/lens2/syndromes.htm 2/9
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