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SYNDROMES LIST

SYNDROMES LIST
Beckwith Widemann syndrome
Klinefelters syndrome
Marfans syndrome
Sotos 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
Wilms tumour
I
Insulin increased- Hyperinsulinism
T
Tumours- Increased risk of tumours
Tongue enlarged (Macroglossia)
H
Hemihypertrophy
Hypoglycemia- severe
Head circumference decreased- Microcephaly
A
B
C
D
E
F
G
H
I

Asymmetry
Abnormal transverse crease in the pinna of the ear
Birth length more
crown heel length is more than 97 th percentile
Dysmorpism
Exopmphalos . , Ompholocele
Facial nevus flammeus
Gonodablastoma
Hepatoblastoma
Incraese in organ size -Visceromegaly (Liver and
kidneys)

KLINEFELTERS 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\
Klinefelters syndrome is associated with the following
Hypogonadism
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SYNDROMES LIST

2 ) What are the features of KLINEFELTERS SYNDROME

(Mnemonics - KLINEFELTERS)
K
L

Karyotyping- 47 XXY
Long bones epiphysial fusion delayed due to decreased
testosterone
Intelligence- Mental subnormality
Non dysjunction (Meiotic) of X chromosome during parental
gametogenesis
Enuchoidal,
Feminising features Gynaecomastia,
Epiphysial fusion delayed due to decreased testosterone
Lower segment > upper segment
Long legs
Learning problems
Tall stature
Testis pea sized, small ,firm ,cryptorchidism ,hypospadiasis
may occur
Elevated plasma and urinary gonadotropins
Ridge count low
Secondary sexual characters loss
Sterilty
Sperm Azoospermia
School adjustment problems

I
N
E
F
E
L
T
E
R
S

What are the features of Marfans syndrome ?

(Mnemonics - MARFANS A - M )
M
Mitral VALVE prolapse /regurgitation
A
Arachnodactyly.
R
Ratio of upper segment to lower segment is
decreased
F
Fathers 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

Built- Tall stature

Blue sclera
Chest wall deformities- pectus excavatum , pectus
carinatum
Collagen synthesis is defective
Dislocation of lens upwards and outward
Dental crowding
Dolichostenomelia-(limbs are long and thin)
Enuchoidal,
Flat cornea
fibrillin gene on chromosome 15- Mutation
Genu recurvatum
High arched palate

C
D
E
F
G
H

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SYNDROMES LIST

I
J
K
L
M

Intelligence normal
Iridodonesis
Joints laxity - Hyperextensible joints
Kyphosis / scoliosis
Long slender fingers and toes
Lens- Subluxation of lens
Ligaments laxity
MYOPIA

What are the features of Sotos syndrome ?

(Mnemonics A L )
A
Ataxia
B
Birth weight and length - Large for age at birth
Bone age advanced
C
Cerebral ventricles- Dilated
D
Dolichocephalic head
E
Eye antimongoloid slant , Hypertelorism
Electroencephalogram abnormal
(Endocrine studies will be normal .Eosinophilic
adenoma should be ruled out )
F
Facies-coarse looking
G
Gigantism (cerebral )
Genitalia abnormal
Gait Awkward
Genetic defect not known
H
Hypotonia
Head circumference increased (macrocrania )
High arched palate
I
Intelligence - Mental retardation
J
Jaw Prognathism
K
Kinesics- Fine movements difficult to perform
L
Linear growth increased
Learning difficulties

McCune Albright syndrome Early on set of puberty

Asymmetry
bone age Advanced
Caf au Lait spots
dysplasia -Polyostotic fibrous dysplasia
Early on set of puberty
Fractures
Girls > boys
Gonadotrophin independent Precocious puberty , Premature
menarche , Premature telarche
Height increased - Tall statute
Intelligence normal
Associated problems with McCune Albright syndrome
Acromegaly
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SYNDROMES LIST

Alopecia
Bone-hypophosphatemic rickets
Cancer- Malignancies
Diabetes
Endocrinopathies - Cushing syndrome``
Fractures fibrous dysplastic bone
Goiters
Hyperthyroidism
Hyperprolactinemia

SOTOS SYNDROME
(CEREBRAL GIGANTISM)
A
Ataxia
B
Birth weight and length - Large for age at birth
Bone age advanced
Bone age = height age
C
Cerebral ventricles- Dilated
Clumsy movements
D
E

chin Pointed
Dolichocephalic head
Eye antimongoloid slant , Hypertelorism
Electroencephalogram abnormal
(Endocrine studies will be normal .Eosinophilic
adenoma should be ruled out )
Facies-coarse looking
First four to five years Fast growth

I
J
K
L

Fine movements difficult to perform

Growth rapid
Gigantism (cerebral )
Genitalia abnormal
Gait Awkward
Genetic defect not known
Hypotonia
Head circumference increased (macrocrania )
High arched palate
Hypertelorism
Intelligence - Mental retardation
Increased interorbital distance
Jaw Prognathism
Kinesics- Fine movements difficult to perform
Linear growth increased
Learning difficulties
Mental retardation
Neoplasms-increased risk for Hepatic carcinoma,
Wilms tumour, Parotid tumours
Osseous maturation+ height age
Orbital roof high
Puberty at normal or early age

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SYNDROMES LIST

Abnormally tall
Arched palate
Prominent forehead
Marfans syndrome
M
A
R
F
A
N
S
A
B
C
D
E
F
G
H
I
J
K
L
M

Mitral VALVE prolapse /regurgitation

Arachnodactyly.
Ratio of upper segment to lower segment is
decreased
Fathers age advanced increases the risk
fibrillin gene on chromosome 15- Mutation
Aortic regurgitation
Narrow maxilla
Subluxation of lens,
Autosomal dominant
Arachnodactyly.
Arm span > height
Built- Tall stature
Blue sclera
Chest wall deformities- pectus excavatum , pectus
carinatum
Collagen synthesis is defective
Dislocation of lens upwards and outward
Dental crowding
Dolichostenomelia-(limbs are long and thin)
Enuchoidal,
Flat cornea
fibrillin gene on chromosome 15- Mutation
Genu recurvatum
High arched palate
Intelligence normal
Iridodonesis
Joints laxity - Hyperextensible joints
Kyphosis / scoliosis
Long slender fingers and toes
Lens- Subluxation of lens
Ligaments laxity
MYOPIA

BAD SYNDROME
1) Bells phenomenon
2) Anesthetic cornea,
3) Dry eyes

Beckwith Widemann syndrome

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SYNDROMES LIST

B
E
C
K
W
I
T

Birth weight - Large for date

Eyes prominent
Erythrocytes increased - Polycythemia
Chromosome 11 p15 Partial duplication of chromosome
11p
Clefts in the ear lobes
Kidney enlarged
Wilms tumour
Wall (Abdominal ) defects omphalocele,
Weight Over weight
Insulin increased- Hyperinsulinism
Tumours- Increased risk of tumours(Wilms tumour,
hepatoblastoma, neuroblastoma, rhabdomyosarcoma)
Tongue enlarged (Macroglossia)

Hemihypertrophy
Hypoglycemia- severe ( hyperplasia of pancreatic islet
cells causes hyperinsulinism)
Head circumference decreased- Microcephaly
Hyperlipidemia
Hypercholesterolemia

Asymmetry
Abnormal transverse crease in the pinna of the ear
Birth length more
crown heel length is more than 97 th percentile
Cleft palate
Dysmorpism
Exopmphalos . , Ompholocele
Facial nevus flammeus
Gonodablastoma
Gigantism
Hepatoblastoma
Increase in organ size -Visceromegaly (Liver and
kidneys)

B
C
D
E
F
G
H
I

Cri du chat
Microcephaly
Mental retardation- Profound
Moon like facies
Meah -CAT LIKE CRY

Eisenmengers Syndrome associated with reversal of shunt in any cardiac conditions associated with left to right
shunts
Eisenmengers complex associated with reversal of shunt in VSD
A
Atrial enlargement (Right)
B
Bulging percordium
C
Cyanosis-central
Chest pain
D
Dyspnoea
E
Epigastric pulsations
Effort intolerance
F
Fatiguability
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SYNDROMES LIST

Failure to thrive
Graham Steel murmur
Haemoptyiss
Increased pulmonary artery pressure
Infections or respiratory tract

G
H
I
J

JVP Jugular vein engorged

V wave prominent in tricuspid regurgitation

K
L
M

Liver enlarged

Left ventricular size decreased

Right ventricular hypertrophy
Syncope
Differential cyanosis
Carvallo sign- murmur of VSD or PDA disappears and pansystolic murmur of tricuspid regurgitation increases during
inspiration
Investigations
Polycythemia
ECHO RAD-right axis deviation
Right atrial dilatation
Cardiomegaly
Treatment
Complications
Arrhythmias
Chest pain
Haemoptysis
Prognosis

What are the features of fetal ALCOHOL

fetal ALCOHOL

syndrome

syndrome

FETAL ALCOHOL SYNDROME

A
Atrial septal defect , Aberrant great vessels
ATTENTION DEFICIT HYPERACTIVITY DISORDER
B
Bone skeletal abnormalities -Hemivertebra
Behavioural disordersC
Camptodactyly
Clinodactyly
Cardiac defects VSD
D
Depressed nasal bridge
Delayed developmental mile stones
E
Ears malformed Railroad track ear
Epicanthal folds
Executive functioning impaired
F

Fifth digit- shortened

Facial abnormalities
Facies - characteristic facies ( reduced palpebral fissure length /

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SYNDROMES LIST

inner Canthal distance ration)

Growth retardation-intrauterine and post natal growth retardation
Hearing loss ( Conductive / neurosensory )
Hypoplasia of maxilla
I
Impulsive behaviour
Intellectual dysfunction
J
Joint abnormalities - radioulnar synostosis
Jaw Micrognathia
K
Kidneys Aplastic /hypoplastic , hydronephrosis, horse SHOE
kidneys
Klippel Feil syndrome
L
Low set ears
Learning problems Length decreased
Limb abnormalities
M
Microcephaly
Memory defects verbal , auditory , spatial
Maxilla hypoplastic
Mental retardation
Micrognathia
N
Nails Hypoplastic
Neurocognitive deficits
O
Ocular- retinal vessel anomalies
P
Pectus excavatum, Pectus carinatum
Palmar crease abnormalities
PSYCHIATRIC DISORDERS
Processing- verbal , auditory
Q
Quotient IQ decreased , mental subnormality
R
Refractory errors
S
Strabismus
T
Tetralogy of Fallot
U
Upper lip thin ,sooth philtrum
Ureteral duplications
V
Visuospatial deficits
W
Weight - Reduced
Weak baby
HOLT ORAM SYNDROME
G
H

H
O
L
T

Hypoplasia of radius (obvious on supination)

Ostium secundum type of ASD- Associated cardiac defect
Limbs- Arm is shorter
Triphalangism
Thumb is hypoplastic,
Thumb has a accessory phalanx,
Opposition is difficult

R
A

Abrachia (Absence of
arm)
-Phocomelia
M
Metacarpal of the thumb -Small / Absent
What are the features of Holt Oram Syndrome?
H
O
L

Hypoplastic Thumb,

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SYNDROMES LIST

-Thumb has a accessory phalynx, (Opposition is difficult)

(Triphalangism)

O
R
A

Hypoplasia of radius (obvious on supination)

Arm is shorter,
-Associated cardiac defect-ostium secundum type of ASD
-Abrachia (Abscence of arm)-Phocomelia
Metacarpel of the thumb -small / absent

KLINEFELTERS SYNDROME
INCIDENCE 1 : 1000 IN LOW BIRTH BABIES
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\
Klinefelters syndrome is associated with the following
Hypogonadism
K
L
I
N
E
F
E
L
T
E
R
S

Karyotyping- 47 XXY
Long bones epiphysial fusion delayed due to decreased
testosterone
Intelligence- Mental subnormality
Non dysjunction (Meiotic) of X chromosome during parental
gametogenesis
Enuchoidal,
Feminising features Gynaecomastia,
Epiphysial fusion delayed due to decreased testosterone
Lower segment > upper segment
Long legs
Learning problems
Tall stature
Testis pea sized, small ,firm ,cryptorchidism ,hypospadiasis
may occur
Elevated plasma and urinary gonadotropins
Ridge count low
Secondary sexual characters loss
Sterility
Sperm Azoospermia
School adjustment problems

http://www.lakshmanasbook.com/lens2/syndromes.htm

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