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