An Overview Of Paediatric Syndromes

An Overview Of Few SyndromesBY DR SANA BUSHRA

Down syndromeUpward slanting palpebral fissuresEpicanthic foldsProtruding tongueBrachycephalyLow set ears

5Edward syndromeMicrocephalyMicroganthiaHands often clenched overlapping fingers with index over the middle and little over the ring fingerRocker bottom feet

Fragile X syndromeLarge ears , large jawProminent foreheadHigh arched palateMental retardationMacro orchidism

Ehlers Danlos SyndromeHyperextensibility of the skinPoor wound healingIncreased risk of dissection of aorta and aortic regurgitationBlue sclera may be a feature

Pierre-Robin SyndromeHigh arched U shaped palateCleft palateMicrognathiaSecondary posterior displacement of the tongue owing to the small mandible causing respiratory obstruction

Treacher- collinsMicrognathia , antimongoloid palpaberal fissures, colobomata (mostly lower eyelids)Low set ears, deafness , deformed external ears with preauricular sinuses and sometimes absent external auditory canalFusion of radius and ulna

Munchausen syndrome by proxyFabricated illness to get medical attentionCommon symptoms are abdominal pain , vomiting , diarrhea, apnea Obtain and verify medical and social historyAdmit and observe closely parent child interaction

Waardenburg SyndromeSquare face and thin noseDystopia canthorum(the medial canthi of the eyes are more lateral than expected not hypertelorism)Heterochromia iridisWhite forelock

Beckwith-wiedemann syndromeMacrosomiaMacroglossiaTransverse linear groove in the ear lobeNeonatal hypoglycemiaExomphalos

Angelman syndromeMicrocephaly with brachycephalyMental retardationTend to have fair hair and blue eyesHappy puppet with easily provoked paroxysms of laughterHypotonic

23AchondroplasiaDwarfismSaddle nose with a wide nasal bridgeLumbar lordosisVery short humerus

Marfan syndromeTall with long limbsUpward and outward dislocation of lensIncreased joint laxityMitral regurgitation

Goldenhar association(oculo auriculo vertebral dysplasia)Asymmetry of faceColoboma of eyesLow set earsFused vertebraShort neckRenal and CVS abnormalities

Cornelia de Lange SyndromeIUGRMental and growth retardationSynophrys i.e bushy eyebrowsLow hair lineAnteverted nose and downturned mouth

Mobius syndromeCongenital paralysis usually bilateral of VIth and VIIth cranial nerves

Klippel - Feil syndromeFusion of two or more cervical vertebrae into a single boy mass resulting in a short neck ,low hair line, kyphoscoliosisCranial nerve palsiesOne third may be deaf

Turner syndromeShort statureLow hair lineWebbed neckStreaked ovariesWidely spaced hypoplastic nipples

Apert syndromeSyndactylyCraniosynostosisMaxillary hypoplasiaHypertelorism,proptosisCrowded upper teethHigh arched palate

Bloom syndromeTelangiectatic erythema appears as macules or plaques in a butterfly distribution on the faceCaf e lait maculesBird like face Short stature

Noonan Male and looks like turnerShort statureTriangular faceHypertelorismAntimongoloid slant of palpebral fissures and epicanthic folds

Patau syndrome(trisomy 13)IUGRCataractsLow set earsCleft lip/palatePolydactyly , hypoplastic nails

Rubinstein-taybiMental and growth retardationMicrocephaly with maxillary and mandibular hypoplasiaAntimongoloid slantHands have broad thumbs

Fetal alcohol syndromeIUGRMental retardationMicrophthalmia,hypertelorismMaxillary hypoplasiaSmooth philtrum and thin upper lips