4.  What is Down syndrome?
 What are the chromosome basics of Down syndrome?
 How do the extra genes lead to Down syndrome?
 What are the risk factors for conceiving a child with Down
syndrome?
 What are the characteristic features and symptoms of
Down syndrome?
 What type of prenatal screening is available for Down
syndrome?
 How is the diagnosis of Down syndrome made?
 How is Down syndrome managed?

5. • “A genetic condition involving the
presence of a 21st chromosome’’

6. Types of Down Syndrome
 1. An extra (21)
chromosome-this type of
case is called trisomy 21
 2. Translocation, in which 1
2
a chromosome is attached 3
to another one.
 3. Mosaicism, in which
some cells have 47 Purple-Trisomy 21 (95%)
chromosomes Red-Translocation (4%)
Yellow-Mosaicism (1%)

9.  The only well known
risk factor for
conceiving a child
with Down syndrome
is advanced
maternal
age.

10.  Mother's age at conception
Risk of Down syndrome
 25 years 1 in 1,250
 30 years 1 in 1,000
 35 years 1 in 400
 40 years 1 in 100
 45 years 1 in 30

12.  alpha-fetoprotein
(AFP)
screening test.
 the nuchal
translucency
test.
 Ultra sound screens.

13.  It
is recognized from the characteristic
phenotypic features.
 Confirmed by Karyotype.

14. hypothyroidism
Congenital
Heart
leukemia
Defects
Down
syndrome GI
Early malformations
Alzheimer’s (celiac disease
disease Hirschsprung
Disease)
Opthalmic
Disorders
Hearing loss (glaucoma
Congenital
Cataracts)

15. 1. Growth – Measurements should be plotted on the
appropriate growth chart for children with DS.
 This will help in prevention of obesity and early
diagnosis of celiac disease and hypothyroidism.
2. Cardiac disease – All newborns should be evaluated by
cardiac ECHO for CHD in consultation with pediatric
cardiologist.
3. Hearing – Screening to be done in the newborn period,
every 6 months until 3 yrs of age and then annually.

16. 4. Eye disorders - An eye exam should be
performed in the newborn period or at least
before 6 months of age to detect strabismus,
nystagmus, and cataracts.
5. Thyroid Function – Should be done in newborn
period and should be repeated at six and 12
months , and then annually.
6. Celiac Disease – Screening should begin at 2 yrs.
Repeat screening if signs/Sx develop.

17.  7.Hematology – CBC with differential at
birth to evaluate for polycythemia as well
as WBC.
 8.Special education.
 9.Speech therapy

19. “ A malformation
syndrome characterized
by a high short skull,
underdevelopment of
midface , soft tissue and
bony (‘mitten glove’)
fusion of neck vertebrae
and mental retardation.
Synonym :
acrocephalosyndac
tyly

20. 2 point mutation in the fibroblast growth
factor receptor 2 gene

21. Craniosynostosis High steep forehead and
ocular hypertelorism
Ear infections
Progressive synostosis
of bones in the feet Visual loss
hands and vertebrae

22. Palatal anamolies
Ankylosis of joints
Maxillary hypoplasia
Middle 3rd of face is retruded

23.  Gingival thickening which results in
delayed eruption
 Trapezoid shaped appearance to the lips
 Cleft of soft palate
 Bifid uvula
 V shaped arch
 Crowding

24.  Physical exam of
Hand and foot.
 MRI study
 DNA Analysis for FGFR
2.

25.  Surgical
 Skull deformities are addressed in infancy
 Orbital and facial deformities are
corrected during early childhood
 Limb and jaw deformities are addressed
during
aldolescence

27.  DEFINITION
Goltz syndrome, also
known as focal dermal
hypoplasia or Goltz-Gorli
syndrome, is a rare form
of an abnormal skin
condition that is believed
to be a dominant, X-
linked trait.

28. • SKIN
• localized areas of malformed skin
(skin lesions).
• lack color (pigmentation)
in the affected areas or linear pigmentation).
• Fatty deposits (papillomas)
are usually present in areas of
typically sensitive skin, such as
the gums, lips, tongue, armpits etc.
• Nodules of yellowish fatty tissue
can grow on the affected skin,
particularly in skin folds.

29. Face
 Mild microcephaly
 Skull asymetric
 Scalp hair sparse and
brittle
Eye
 Coloboma of the iris
 Nystagmus
 Conjuctival papillomas
 Retinal neovascularization

30. CNS
 Mental retardation
 Mixed hearing loss
MUSCULOSKELETAL SYSTEM
 Short assymetric stature
 Syndactyly (75%)
 Brachydaclyly (60%)

31.  Hypodontia.
 Oligodontia.
 Supernumerary teeth.
 Papillomas on
gingiva, base and
dorsum of the tongue
and perioral region.
 Cleft lip and cleft
palate.

32.  Goltz syndrome is generally diagnosed by
the presence of the characteristic skin
abnormalities coupled with the
characteristic fatty deposits in the gums,
lips, armpits.

33.  Dermatological treatments such as skin
creams
 Dental surgery
 Skeletal deformities may be corrected by
orthopedic surgery.

34.  NORD GUIDE TO RARE DISORDERS
(LIPPINCOTT)
 SYNDROMES OF THE HEAD AND
NECK (OUP)
 Google.com