An Overview Of Few Syndromes

BY DR SANA BUSHRA
 Down syndrome
Upward slanting palpebral fissures
Epicanthic folds
Protruding tongue
Brachycephaly
Low set ears
 Edward syndrome
Microcephaly
Microganthia
Hands often clenched overlapping fingers with
index over the middle and little over the ring
finger
Rocker bottom feet
 Fragile X syndrome
Large ears , large jaw
Prominent forehead
High arched palate
Mental retardation
Macro orchidism
 Ehlers Danlos Syndrome
Hyperextensibility of the skin
Poor wound healing
Increased risk of dissection of aorta and aortic
regurgitation
Blue sclera may be a feature
 Pierre-Robin Syndrome
High arched U shaped palate
Cleft palate
Micrognathia
Secondary posterior displacement of the
tongue owing to the small mandible causing
respiratory obstruction
 Treacher- collins
Micrognathia , antimongoloid palpaberal
fissures, colobomata (mostly lower eyelids)
Low set ears, deafness , deformed external
ears with preauricular sinuses and sometimes
absent external auditory canal
Fusion of radius and ulna
 Munchausen syndrome by proxy
Fabricated illness to get medical attention
Common symptoms are abdominal pain ,
vomiting , diarrhea, apnea
Obtain and verify medical and social history
Admit and observe closely parent child
interaction
 Waardenburg Syndrome
Square face and thin nose
Dystopia canthorum(the medial canthi of the
eyes are more lateral than expected not
hypertelorism)
Heterochromia iridis
White forelock
 Beckwith-wiedemann syndrome
Macrosomia
Macroglossia
Transverse linear groove in the ear lobe
Neonatal hypoglycemia
Exomphalos
 Angelman syndrome
Microcephaly with brachycephaly
Mental retardation
Tend to have fair hair and blue eyes
Happy puppet with easily provoked paroxysms
of laughter
Hypotonic
 Achondroplasia
Dwarfism
Saddle nose with a wide nasal bridge
Lumbar lordosis
Very short humerus
 Marfan syndrome
Tall with long limbs
Upward and outward dislocation of lens
Increased joint laxity
Mitral regurgitation
 Goldenhar association(oculo auriculo
vertebral dysplasia)
Asymmetry of face
Coloboma of eyes
Low set ears
Fused vertebra
Short neck
Renal and CVS abnormalities
 Cornelia de Lange Syndrome
IUGR
Mental and growth retardation
Synophrys i.e bushy eyebrows
Low hair line
Anteverted nose and downturned mouth
 Mobius syndrome
Congenital paralysis usually bilateral of VIth
and VIIth cranial nerves
 Klippel - Feil syndrome
Fusion of two or more cervical vertebrae into
a single boy mass resulting in a short neck
,low hair line, kyphoscoliosis
Cranial nerve palsies
One third may be deaf
 Turner syndrome
Short stature
Low hair line
Webbed neck
Streaked ovaries
Widely spaced hypoplastic nipples
 Apert syndrome
Syndactyly
Craniosynostosis
Maxillary hypoplasia
Hypertelorism,proptosis
Crowded upper teeth
High arched palate
 Bloom syndrome
Telangiectatic erythema appears as macules or
plaques in a butterfly distribution on the face
Caf e lait macules
Bird like face
Short stature
 Noonan
Male and looks like turner
Short stature
Triangular face
Hypertelorism
Antimongoloid slant of palpebral fissures and
epicanthic folds
 Patau syndrome(trisomy 13)
IUGR
Cataracts
Low set ears
Cleft lip/palate
Polydactyly , hypoplastic nails
 Rubinstein-taybi
Mental and growth retardation
Microcephaly with maxillary and mandibular
hypoplasia
Antimongoloid slant
Hands have broad thumbs
 Fetal alcohol syndrome
IUGR
Mental retardation
Microphthalmia,hypertelorism
Maxillary hypoplasia
Smooth philtrum and thin upper lips