What is Down syndrome? What are the chromosome basics of Down synd

rome? 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?

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

1. An extra (21) chromosome-this type of case is called trisomy 21

2. Translocation, in which a chromosome is attached to another one.

3. Mosaicism, in which some cells have 47 chromosomes

Types of Down Syndrome

1

2

3

Purple-Trisomy 21 (95%)Red-Translocation (4%)Yellow-Mosaicism (1%)

The only well known risk factor for conceiving a child with Down syndrome is

advanced maternal age. 

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

alpha-fetoprotein (AFP)

screening test.

the nuchal translucency

test.

 Ultra sound screens.

It is recognized from the characteristic phenotypic features.

Confirmed by Karyotype.

hypothyroidism

leukemia

GI malformations(celiac diseaseHirschsprung

Disease)

Opthalmic Disorders(glaucomaCongenitalCataracts)

Hearing loss

Early Alzheimer’s

disease

CongenitalHeart

Defects

Downsyndrome

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.

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.

7.Hematology – CBC with differential at birth to evaluate for polycythemia as well as WBC.

8.Special education.9.Speech therapy

“ 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 : acrocephalosyndactyly

2 point mutation in the fibroblast growth factor receptor 2 gene

High steep forehead and ocular hypertelorism

Visual loss

Ear infections

Craniosynostosis

Progressive synostosis of bones in the feet hands and vertebrae

Ankylosis of joints

Maxillary hypoplasia

Palatal anamolies

Middle 3rd of face is retruded

Gingival thickening which results in delayed eruption

Trapezoid shaped appearance to the lips

Cleft of soft palate Bifid uvulaV shaped archCrowding

Physical exam ofHand and foot.

MRI study

DNA Analysis for FGFR 2.

Surgical Skull deformities are addressed in

infancyOrbital and facial deformities are

corrected during early childhood Limb and jaw deformities are

addressed during aldolescence

DEFINITIONGoltz 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.

• 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.

Face Mild microcephaly Skull asymetric Scalp hair sparse and

brittle

Eye Coloboma of the iris Nystagmus Conjuctival papillomas Retinal neovascularization

CNS Mental retardation Mixed hearing loss

MUSCULOSKELETAL SYSTEM Short assymetric stature Syndactyly (75%) Brachydaclyly (60%)

Hypodontia. Oligodontia. Supernumerary

teeth. Papillomas on

gingiva, base and dorsum of the tongue and perioral region.

Cleft lip and cleft palate.

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

Dermatological treatments such as skin creams 

Dental surgerySkeletal deformities may be

corrected by orthopedic surgery.

NORD GUIDE TO RARE DISORDERS (LIPPINCOTT)

SYNDROMES OF THE HEAD AND NECK (OUP)

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