Recognisable syndromes Flashcards
Down’s syndrome (trisomy 21)
Facies: oblique orbital fissures, epicanthic folds, hypertelorism (widely spaced eyes), conjunctivitis, lenticular opacities, small low-set ears, flat nasal bridge, mouth hanging open, protruding tongue (large, heavily fissured).
Hands: single palmar crease (not pathognomic), short broad hands, curved little finger, hyper-flexible joints with generalised hypotonia.
Other: mental deficiency, wide gap between 1st and 2nd toes, short stature, dementia of Alzheimer type, hypothyroidism.
Turner’s syndrome (45 XO)
Facies: micrognathia (small chin), epicanthic folds, low-set ears, fish-like mouth, hypertelorism, ptosis, strabismus.
Neck: short, webbed neck, redundant skin folds at back of neck, low hairline.
Chest: shield-like chest, widely spaced nipples.
Limbs: short 4th metacarpal or metatarsal, hyper plastic nails, lymphoedema, increased carrying angle of the elbow.
Marfan’s syndrome
Autosomal dominant condition caused by defects in fibrillin gene (ch15q).
Facies: long, narrow face, high-arched palate, lens dislocation, heterochromia of iris, blue sclera, myopia.
Limbs: tall stature, armspan > height, hyperextensibility of joints, recurrent dislocations.
Hands: elongated fingers and toes (arachnodactyly).
Chest: funnel or pigeon chest, kyphoscoliosis, aortic incompetence.
Other: cystic disease of the lungs (spontaneous pneumothorax, bullae, apical fibrosis, aspergilloma and bronchiectasis), inguinal or femoral hernias.
Tuberous sclerosis
Also known as Bourneville’s disease of the skin.
Autosomal dominant condition localised to chromosomes 16 and 9.
Skin: adenoma sebaceum (angiofibromata- papular, salmon-coloured eruption on the centre of the face, especially at the nasolabial folds); shagreen patches (flesh-coloured, lumpy plaques found mostly on the lower back); fungal fibromata (firm, pink, periungal papules growing out from the nail beds); hyper pigmented ‘ash-leaf’ macule (trunk and buttocks); café-au-lait macules and patches.
Neurofibromatosis type 1
Also known as von Recklinghausen’s disease.
Autosomal dominant.
Skin: neurofibromata (single, lobulated or pedunculated, soft, firm, mobile, lumps or nodules along the course of nerves), café-au-lait spots (especially in the axillae), axillary freckling.
Other: kyphoscoliosis, nerve root involvement or compression, muscle wasting, sensory loss (Charcot’s joints), plexiform neuroma, lung cysts.
Peutz-Jeghers syndrome
Skin: sparse or profuse brownish-black pigmented macules on lips, around mouth and on buccal mucosa, hands and fingers.
Oculocutaneous albinism
Marked hypomelanosis (pale skin), white hair or faintly yellow blonde. Nystagmus, photophobia, hypopigmented fundus, translucent (pink) iris.
Myotonic dystrophy
Facies: myopathic facies (drooping mouth and long, lean, sad, sleepy expression), frontal balding in men, ptosis, wasting of facial muscles (especially temporalis and masseter), cataracts.
Other: wasting of sternomastoids, shoulder girdle, and quadriceps, areflexia, myotonia (percussion in tongue and thenar eminence, delay before releasing grip), cardiomyopathy, slurred speech, testicular atrophy, diabetes, intellect and personality deterioration in later stages.
Parkinson’s disease
Facies: expressionless, unblinking face, drooling, titubation, blepharoclonus (tremor of eyelids when eyes gently closed).
Gait: shuffling, festinant gait with reduced arm swing.
Tremor: pill-rolling tremor, lead-pipe rigidity, cog-wheel rigidity, glabellar tap positive, small, tremulous, untidy handwriting (micrographia).
Osler-Weber-Rendu syndrome
Also know as hereditary haemorrhagic telangiectasia (HHT).
Facies: telangiectasia (on face, around mouth, on lips, on tongue, buccal mucosa, nasal mucosa), telangiectasia may also be found on fingers. Associated with epistaxis, GI haemorrhage, iron-deficiency anaemia, haemoptysis.
Systemic sclerosis/CREST syndrome
Face/hands: telangiectasia and pigmentation, pinched nose, perioral tethering, tight, shiny and adherent skin, vasculitis, atrophy of finger pulps, calcinosis (fingers), Raynaud’s phenomenon.
