Physical Exam

also see: Pathology / Pathognomonic findings

Behavior

• cri-du-canard (muffled voice, dysphonia, like a duck): retropharyngeal abscess
• hypotonia at birth: prader-willi, downs, pompe's disease (in infant, not necessarily @ birth), peroxisomal disorders (profound hypotonia and dysmorphisms)
• "puppet-like" gait, paroxyms of laughter: Angelman
• Repetitive hand gestures/wringing: Rett syndrome
• Seizures on awakening from sleep: infantile spasms, benign rolandic epilepsy
• startle reaction to loud noises: Tay-Sachs, hyperekplexia

Unusual odor can be seen in the following:

• maple syrup urine disease (sweet urine odor)
• isovaleric acidemia, glutaric acidemia type II (sweaty feet odor)
• PKU (musty, mousey odor)
• multiple carboxylase deficiency (cat urine odor)
• tyrosinemia (cabbage-like or rancid butter odor)
• cystinuria (sulfurous odor)
• trimethylaminuria (fish market odor)

Body type

• marfanoid habitus: stickler, marfan, homocystinuria
• hemihypertrophy: beckwith-wiedemann, proteus syndrome, klippel-trenaunay-webber

Skin

• adenoma sebaceum: tuberous sclerosis
• ash-leaf spots: tuberous sclerosis
• auspitz sign: in psoriasis, scale is thick and adherent, and when removed, pinpoint areas of hemorrhage may be observed.
• bruising, easy: heme disorders (hemophilia), OI, Ehlers danlos
• cafe-au-lait, smooth border (coast of california): neurofibromatosis,
• cafe-au-lait, irregular borders (coast of maine): McCune-Albright (also pseudohypoparathyroid)
• cafe-au-lait: Russell-silver, ataxia-telangiectasia, hypomelanosis of Ito
• chamois skin (velvety): Ehlers-Danlos
• chancre, painless: primary syphilis
• cigarette paper scars: Ehlers-Danlos
• diaper rash, persistent: histiocytosis (seb derm, also on scalp), acrodermatitis enteropathica (erythematous, crusted patches around the mouth and eyes, on the distal extremities, and in the perineum)
• fair skin (with blond hair, blue eyes, and FTT -> cystinosis)
• freckling, axillary/inguinal (crow's sign): neurofibromatosis
• generalized thickening of skin and subcutaneous tissue: proteus
• Gottron's papules (symmetric purple, flat-topped papules with atrophy, classically over PIP joints: dermatomyositis
• gummas: soft-tumor like growths (granulomas) in congenital syphilis
• heliotrope rash over eyelids: dermatomyositis
• hypochromic whirled marble lesions, with midline cutoff: hypomelanosis of Ito; whirled lesions also seen in incontinentia pigmenti
• increased sweating: Russell-Silver
• Koebner phenomenon: appearance of lesions along a site of injury; seen in a variety of conditions; ie, lichen planus, warts, molluscum contagiosum, psoriasis, lichen nitidus, and the systemic form of juvenile rheumatoid arthritis.
• lightening of skin/hair (subtle): PKU, Angelman, partial albinism in Waardenburg (white forelock)
• malar rash, nasolabial fold sparing: SLE
• malar rash, including over nasolabial fold: dermatomyositis
• Nikolsky sign: Gentle friction applied to the skin produces Nikolsky sign, a sloughing of superficial sheets of skin (bullous impetigo, staph scalded skin syndrome)
• port-wine stain, upper forehead/eyelid: sturge-weber
• rash, lower extremity: Henoch Schonlein purpura, Familial mediterranean fever
• rhagades (cracks, fissures in skin esp at mucocutaneous junctions, mouth/anus): congenital syphilis
• salt and pepper: plaques or drops of nontender, hard, & thickened skin with red/ violaceousborders that then becomes atrophied; Get both hypo and hyperpigmentation, creating a “salt and pepper” appearance: in morphea scleroderma
• seborrheic dermatits of scalp or diaper area: histiocytosis
• shagreen patches: tuberous sclerosis, proteus
• subcutaneous nodules: rheumatic fever, SLE, rheumatoid arthritis
• V-neck rash, photosensitive: dermatomyositis
• velvety/chamois skin: Ehlers-Danlos
• verruca vulgaris: extensive warts associated with hyper IgM, incontentia pigmenti
• vesicular, whirly eruptions, neonatal, followed by warty eruption: incontinentia pigmenti
• vitiligo: ataxia-telangiectasia
• whirled lesions: incontinential pigmenti, hypomelansis of Ito

Head shape/size

• dolichocephaly: prader willi, sagittal craniosynostosis
• frontal ridges, prominent: hypohydrotic ectodermal dysplasia
• prominent occiput: trisomy 18, smith-lemli-opitz
• pseudohydrocephalus: russell-silver
• clover-leaf: Crouzon, Pfeiffer
• flat face, short AP diameter: Apert
• microcephaly: TORCH infection, many syndromes, Rett syndrome, Rubinstein-Taybi, Smith-Lemli-Opitz, Fetal alcohol syndrome
• macrocephaly: Soto syndrome, Mucopolysaccharidoses, Canavan syndrome

Scalp/Skull

• aplasia cutis: trisomy 13
• Fontanelle
• Pott's puffy tumor: area of skull with doughy consistency; it is an area of edema surrounding regions of skull osteomyelitis.

Facies

• elfin: Alagille, Williams
• triangular: Russell-Silver, Alagille
• mask-like: Moebius
• facial or abducens nerve palsies: Moebius
• deficient malar area: Treacher-Collins, Shprintzen
• parotid swelling: mumps, HIV (bilateral, development of lymphoepithelial cysts), Sjogren's syndrome, sarcoid
• Potter facies: low-set ears, flattened face, micrognathia

Hair

• eyebrows/eyelashes, absent: hypohidrotic ectodermal dysplasia
• fair hair and skin: prader willi, angelman, (fair skin, blond hair, blue eyes, and FTT -> cystinosis)
• hypertrichosis, generalized:
• congenital (matern ingestion of minoxidil, phenytoin, diazoxide)
• autosomal dominant (hypertrichosis lanuginosa, universal hypertrichosis, or hyptrichosis w/ gingival hyperplasia)
• X-linked dominant
• familial with multifactorial inheritance
• Syndromes (Brachmann-de Lange aka cornila de lange, Ambras, rubenstein-taybi, coffin-siris, Laband, Hunter, Hurler, Sanfilippo, Bloom, Seckel, Gorlin, Cowlen, Seip-Berardinelli, Donohue, Barber-say, stiff skin, winchester, trisomy 18, trisomy 3q, schinzel-giedion)
• low hairline: trisomy 13, Turners, Noonan, Klippel-Feil
• thin hair: hypohidrotic ectodermal dysplasia (with peg teeth, absent eyebrows/eyelashes, everted lips, prominent frontal ridges, saddle nose)
• premature graying of hair: ataxia-telangiectasia, waardenburg
• white forelock: waardenburg

Eyes

• almond shaped eyes: prader willi
• antimongoloid slant of palpebral fissures (surprise eyes): Rubinstein-Taybi; Treacher-collines
• Blue sclerae: OI, Russell-Silver, Marshall-Smith, Roberts-SC Phocomelia
• Blue sclerae: occasionally in Ehlers Danlos, Halllerman-Streiff, Incontinentia Pigmenti, Marfan, Trisomy 18, Turner
• Blue eyes (with blonde hair, fair skin and FTT -> cystinosis)
• buphthalmos (ox-eye): Sturge-Weber, congenital glaucoma
• ciliary flush: redness around cornea -> uveitis
• coloboma: CHARGE, coloboma in lower lid in Treacher-Collins
• cherry red spot in macula: Tay-Sachs, GM1 and GM2 gangliosidosis, Nieman Pick, Farber disease, Sialidoses, galactosialidosis , Krabbe disease
• chorioretinitis: TORCH infections
• dermoid, epibulbar/subconjunctival: Goldenhaar
• epicanthal folds: Trisomy 21, Williams, Moebius
• epicanthus inversus: Ehlers-Danlos
• exophthalmos/prominent eyes: beckwith-Wiedemann, Apert, Crouzon, Pfeiffer
• exopthalmos, pulsating: neurofibromatosis
• hypertelorism: DiGeorge
• iris hamartoma = Lisch nodule: seen in neurofibromatosis type 1
• iris, heterochromic: Waardenburg
• iris, stellate pattern: Williams
• keratitis, interstitial: congenital syphilis
• lash deficit, partial: Treacher-Collins
• Lisch nodule: see iris hamartoma
• microcornea: Ehlers-Danlos
• opsoclonus-myoclonus: neuroblastoma
• palpebral fissures, short: DiGeorge, fetal alcohol syndrome
• periorbital fullness: Williams
• ptosis: cornelia de lange, smith-lemli-opitz, Noonan, fetal alcohol syndrome, myasthenia gravis, hypothyroid (lid lag)
• racoon eyes: neuroblastoma (periorbital hemorrhage secondary to metastatic tumor), basilar skull fracture (intraorbital bleeding from fractures of the floor of the frontal fossa)
• retinal hamartomas: tuberous sclerosis
• retinitis pigmentosa: Lawrence-Moon-Biedl
• stellate pattern in iris: Williams
• strabisumus, divergent: hydrocephalus
• thin upper lip: fetal alcohol syndrome

Ears

• chronically draining otitis media: histiocytosis
• deafness: Alport, CHARGE, Jervell and Lange-Nielsen, Crouzon, OI, stickler, waardenburg, syphilis, klippel-feil (30%)
• general anomalies: moebius, digeorge, CHARGE, goldenhaar
• Hyperacusis: Williams
• Pits/creases on earlobe or ear: Beckwith-Weidemann
• posteriorly rotated: Rubinstein-Taybi
• tags in a line from ear to mouth: goldenhaar
• hypermobile ears: Ehlers-Danlos
• microtia: retinoic acid embryopathy (Accutane)

Nose

• anosmia: Kallman syndrome
• anteverted nostrils: Cornelia de Lange, Smith-Lemli-Opitz, Williams
• beaked nose: Rubinstein-Taybi
• flat nasal bridge (pug nose): Williams
• nasal hypoplasia: fetal coumarin exposure
• polyps: allergic fungal sinusitis, allergic rhinitis, aspirin sensitivity (Samter Triad), Churg Strauss syndrome, chronic sinusitis, cystic fibrosis, kartagener syndrome, non-allergic rhinitis
• prominent nose w/ squared nasal root: Shprintzen (velocardiofacial)
• saddle nose: congenital syphilis (due to destructive changes), Wegener granulomatosis, hypohydrotic ectodermal dysplasia

Mouth/Lips

• circumoral pallor: scarlet fever
• crease from one corner of mouth: goldenhaar
• downturned corners of mouth: cornelia de lange, russell silver
• everted lips: hypohidrotic ectodermal dysplasia
• fish mouth: myotonic dystrophy (and some other disorder, too..hmmm?)
• gingival fibromas: tuberous sclerosis
• macroglossia: Congenital: Beckwith-Wiedemann, mucopolysaccharidoses, Down syndrome, gargoylism, lingual thyroid, transient neonatal diabetes mellitus, Laband syndrome, Behmel syndromes, lethal dwarfism of Blomstrand, autosomal dominant inheritance. Acquired metabolic: hypothryoid, cretinism, diabetes
• palate, high arched: marfan
• philtrum, short: digeorge
• tongue fasciculations: spinal muscular atrophy (SMA) Type I
• tongue, strawberry: Kawasaki, scarlet fever
• tonsillar enlargement: HIV, leukemia, lymphoma, infection
• thick saliva: prader willi

Voice

• cat-like cry: cri-du-chat
• hoarse voice: Williams
• nasal speech: Shprintzen, velopharyngial insufficiency

Teeth

• Coloration
  • yellow/brown stains: tetracycline discoloration
  • reddish brown teeth: porphyria
  • bluish, opalescent sheen on teeth due to defective dentin: dentinogenesis imperfecta (in osteogenesis imperfecta)
• enamel hypoplasia: williams
• Hutchinson teeth (notched, pegged), mulberry molars: congenital syphilis
• peg-shaped: incontinentia pigmenti, congenital syphilis (see Hutchinson teeth)
• pits in dental enamel: tuberous sclerosis minor criterion
• widely spaced teeth: angelman
• Tooth eruption, delayed

Jaw

• micrognathia: trisomy 18, Pierre-Robin, cornelia de lange, russell-silver, smith-lemli-opitz; moebius, fetal alcohol syndrome
• prognathia (prominent chin): Angelman
• maxillary hypoplasia: Angelman, Rubinstein-Taybi, fetal alcohol syndrome

Neck

• short neck: Turner, Noonan, Klippel Feil

Chest

• absence of one or more portions of pectoralis major muscle (unilateral): Poland anomaly
• short sternum: prader-willi
• pectus carinatum
• pectus excavatum: Noonan

Abdomen

• abdominal wall defects: umbilical hernia/omphalocele: Beckwith-Wiedemann
• prune belly sydrome
• umbilical cord, delayed separation (> 2 mos): leukocyte adhesion deficiency

Umbilicus

• single umbilical artery: VACTERLS

Back

• kyphoscoliosis: Friedrich ataxia
• note position of scapula while in prone position. a winged/elevated scapule = Sprengel deformity.
• lumbar lordosis: achondroplasia
• lifting baby by armpits makes scoliosis more obvious

Extremities

• micromelia (short limbs) or phocomelia (stubby hands/feet attached close to body): Cornelia de Lange
• broad thumbs and toes: Rubinstein-Taybi, Pfeiffer
• assymmetry of limbs: russell silver, proteus, Beckwith-Wiedeman
• unequal length of circumference is associated with intrabdominal neoplasms
• hemihypertrophy: Beckwith-Wiedemann, proteus
• hand/foot abnormalities and abnormal shaped head: apert syndrome
• Streeter dysplasia (Congenital Constricting Bands): shallow indentations of soft tissue to severe, amputating constrictions due to amniotic bands

Joints (general)

• Joint hypermobility: connective tissue diseases, achondroplasia
• ankylosis of elbows: Pfeiffer

Upper extremities (general)

• elbow: the normal newborn has a mild flexion contracture that doesn't disappear until a few weeks p birth
• Epitrochlear nodes suggests syphilis
• 4 entities assoc with absent or hypoplastic radius
  • congenital thrombocytopenia-absent radius (TAR) syndrome
  • VACTERL (formerly VATER): vertebral, anus (imperforate), cardiac origin, TE fistula, radii (absent), renal origin, limbs.
  • Fanconi anemia
  • Holt-Oran Syndrome (assoc w/ secumdum atrioseptal defect)
•  

Hands

• grip that won't relax: myotonic dystrophy
• rash on hands/feet: RMSF, syphilis, Kawasaki
• small hands and feet: prader-willi
• L hand preference: Angelman
• trident hand: achondroplasia
• unilateral hand abnormalities with ipsilateral absence of pectoralis major: Poland anomaly
• syndactyly of 2nd, 3rd, 4th fingers, which may be joined to thumb and 5th finger "mitten hand: apert

Fingers

• absent, supernumerary or bifid thumbs: fanconi's anemia
• index and pinky fingers overlap the middle two: trisomy 18
• clinodactyly: cornelia de lange, russell silver
• spatulate fingertips: Rubinstein-Taybi
• small proximally placed thumbs: smith-lemli-opitz
• digital fibromas: tuberous sclerosis
• phalanges, distal hypoplasia: phenytoin syndrome
• + thumb sign. When wrapping thumb inside fist, thumb protrudes past ulnar edge: marfan
• triphalangeal thumbs: Diamond-Blackfan anemia
• broad toes and thumbs/spatulate: Pfeiffer syndrome, Rubinstein-Taybi
• syndactyly of toes 2,3: Smith-Lemli-Opitz

Nails

• Beau's lines - growth arrest lines; transverse grooves across nails 1-2 mos after disease (i.e after Kawasaki)
• nail hypoplasia: trisomy 18, phenytoin syndrome
• ungual/periungual fibromas: tuberous sclerosis

Genitalia

• micropenis: prader willi
• hypospadia: smith-lemli-opitz

Gait

• painless limp - avascular necrosis of femoral head (incl Legg Calves Perthe)
• pseudoparalysis of parrot - osteochondritis or periostitis in congenital syphilis causes pain, which causes decreased movement
• pre-schooler with ankle weakness and tripping (+/- pes cavus): Charcot-Marie-Toothe

Hips

• hips of newborn generally have a flexion contracture, normally 25-30 degrees between thigh and bed
   

Lower extremities (general)

• anterior bowing, pseudoarthroses: neurofibromatosis
• ascending paralysis and areflexia: Guillain-Barre, Tick paralysis
• calf hypertrophy: Duchenne muscular dystrophy
• clutton joints (painless symmetrical hydrarthrosis/synovitis of the knee joint): congenital syphilis (appear at puberty)
• saber shin (sharp-edged, anteriorly convex tibia): congenital syphilis
• Tibia: lateral bowing is nl in newborn. anterior bowing is abnl, consult ortho.
   

Feet

• claw toe, unilateral: in tethered spinal cord
• pes cavus deformity: may be associated with Charcot-Marie-Toothe, Ataxia telangiectasia, Friedrich ataxia
• moccasin lesion: a characteristic warty, hyperplastic plantar foot overgrowth, in Proteus syndrome
• Rocker bottom feet: trisomy 13, 18
• small hands and feet: prader-willi
• syndactyly of 2nd/3rd toes: smith-lemli-opitz
• warty, hyperplastic plantar overgrowth termed 'moccasin lesion': proteus