Syndromes Flashcards by Emma Alexander

Short, IQ <50, brachycephaly, central hypotonia, upward slanting palpebral fissures, hearing defects, protruding tongue, Atalanto-axial laxity, congenital hypothyroidism, tracheoesophageal fistula, CHD, clinodactyly, sandal gap toes

Down’s syndrome

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IUGR, Cutis aplasia seen as ulcers/crust, microcephalic, cataracts, microophthalmia, colobomata, holoprosencephaly, low set eats, CLAP, CHD - ASD, VSD, PDA, polydactyly, renal defects, external genitalia defects

Patau syndrome (Trisomy 13)

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Microcephalic, prominent occiput, micrognathia, CLAP, low set ears, CHD (ASD, VSD, PDA), short sternum, clenched hands with overlapping fingers, clinodactyly, hypoplastic nails, rockerbottom feet, renal abnormalities, apnoea

Edwards syndrome (Trisomy 18)

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In utero oedema, cysts eg cystic hygroma, polyhydramnios, hearing problems with bilateral otitis media, hypoplastic nipples, increased carrying angle, coarctation of aorta, bicuspid aortic valve, hypertension, shield chest, horseshoe kidney, streak ovaries, pigmented naevi, cafe au lair

Turners 45 XO

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Mixed upper and lower motor signs, cardiomyopathy, scoliosis, pes cavus

Freidreich’s ataxia

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AR. Cerebellar ataxia (extrapyramidal), abnormal eye movements, telangiectasia, immunodeficiency, raised AFP, low IgA, prone to ALL, fragile chromosomes. B and T cell defect - recurrent sinopulmonary infections often leading to bronciectasis

Ataxia telangiectasia

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Autosomal recessive, deficiency of acid sphinomyelinase, sphingomyelin accumulation in liver, brain, spleen, lungs, learning difficulties, neurodegenration, hepatosplenomegaly, cherry red spot, skin pigmentation, white cell enzyme assay abnormal

Niemann-Pick disease, bone marrow tx only option, Ashkenazi Jews,

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Congenital cataracts, glaucoma, buphthalmos, hypotonia, hyporeflexia, mental retardation, Fanconi’s syndrome, ricket’s osteopenia, deficiency of phosphatidyl inositol-4,5-bisphosphate phosphatase

Lowe’s syndrome (X-linked recessive)

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Congenital facial and abducens nerve palsy, ectropion, epiphoria, exposure keratopathy, abduction weakness, micrognathia

Moebius syndrome

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Flaccid weakness, extensor plantars, increased deep tendon reflexes, nonspecific illness, decreased sensation bilateral lower limbs

Transverse myelitis

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AR inheritance. Peripheral sensory nerve dysfunction (poor suck and swallow), autonomic dysfunction (temperature dysregulation, excessive sweating), absence of fungiform papillae/smooth tongue, decreased sense of taste, absence of tears. Common Ashkenazi Jews. Raised HMA decreased VMA, death in childhood

Familial dysautonomia, Riley-Day syndrome, hereditary sensory autonomic neuropathy type 3

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X-linked, severe pain/burning in limbs precipitated by heat/cold/exertion, recurrent vomiting, cataracts, cardiomyopathy, angiokeratomas (punctate clusters of ectatic blood vessels), proteinuria leading to renal failure, signs and symptoms of stroke

Fabry’s disease

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IUGR, microcephaly, drooping eyelids, saddle-shaped nose, maxillary hypoplasia, absent philtrum, sunken nasal bridge, thin upper lip, microophthalmia, hypertelorism, 40% cardiac defects with ASD/VSD most common

Fetal alcohol syndrome

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Autosomal recessive, microcephaly, low set posteriorly rotated ears, bitemporal narrowing, ptosis, micrognathia, epicanthal folds, corpus callosum agenesis, cerebellar hypoplasia, self-injury/autism/intellectual disability, CLAP, polydactyly, syndactyly, CHD and ambiguous genitalia

Smith-Lemli-Opitz syndrome, cholesterol synthesis disorder

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Regression of language and motor at 6m-1 year, acquired microcephaly, ataxic gait, fine hand tremors, sighing breathing, repetitive hand wringing, autistic behaviour, tonic-clonic convulsions, feeding problems, poor weight gain, cardiac arrhythmias, microcephaly, scoliosis

Rett syndrome - X-linked dominant inheritance

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Mitochondrial DNA mutation/pyruvate dehydrogenase deficiency, swallowing problems, vomiting, generalised seizures, weakness, hypotonia, ataxia, tremors, pyramidal signs, nystagmus, sighing, external ophthalmoplegia, ptosis, optic atrophy, decreased visual acuity, raised serum lactate, basal ganglia brain attenuation

Leigh’s disease

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Autosomal recessive, steatorrhoea, diarrhoea, progressive ataxia, neuromuscular degeneration, retinitis pigmentosa, usually by age 10 years, caused by failed lipid transport from intestine to liver, acanthocytes

Abetalipoproteinaemia

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Hemivertebrae, sacral agenesis, limb anomalies, cataracts, contractures, facies with small low set ears, micrognathia, beaked nose, widely set eyes, oligohydramnios

Potter syndrome - oligohydramnios and compression in utero

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Polyhydramnios, prematurity, hypokalaemic alkalosis, hypercalciuria/nephrocalcinosis, normal magnesium, impaired concentration, presents antenatally, neonatal or childhood

Bartter’s syndrome - treat with indometacin

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Tall, long limbs, normal intelligence, problem with language and spoken language, thin, gynaecomastia, small firm testes, small penis, sometimes cryptoorchidism, infertile

Klinefelter’s syndrome (47XXY)

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Detected on folate deficient culture medium, cause 30% mental retardation, macrocaphaly, large ears, large jaw, prominent forehead, high arched palate, hyperextensibility of joints (connective tissue dysplasia), flat feet, mitral valve prolapse, macroorchidism

Fragile X syndrome

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15q11-13 deletion (maternal) in 50% cases, microcephaly, brachycephaly, mental retardation, fair hair, blue eyes, happy puppet, seizures and salaam attacks, slow wave cycles 4-6/s on EEG, coarse facies, large tongue, prominent jaw, hypotonic with stiff puppet gait

Angelman syndrome

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5p deletion, severe mental retardation, microcephaly, pathopneumonic sounds

Cri-du-chat syndrome

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15q11-13 deletion (paternal) in 50-75% cases, IUGR, short, hypotonia, almond eyes, long silky hair, small downturned mouth, mental retardation, hypogonadism, feeding problems then appetite and craving, diabetes, Pickwickian syndrome

Prader-Willi syndrome

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Autosomal recessive, obesity, mental retardation, retinitis pigmentosa, knock-knees, polydactyly, hypogonadism, Pickwickian syndrome

Laurence-Moon-Biedl syndrome

Sporadic, mild microcephaly, mental retardation, short palpebral fissure, upturned nose, failure to thrive, supravalvular aortic stenosis (or peripheral PA stenosis), 50% hypercalcaemia -> hypertension -> renal damage

William syndrome

AD with variable transmission, short, triangular facies, hypertelorism, antimongoloid slant of palpebral fissues and epicanthic folds, thin upper lip, pulmonary stenosis, M:F 1:1, bleeding disorders

Noonan syndrome

Sporadic, IUGR, short stature, normal intelligence, triangular face, thin lips, narrow jaw, hemihypertrophy, cafe au lait, hypospadias, clinodactyly (incurved little finger), curved fingers, hypoglycaemia at birth

Russell-Silver syndrome

AD, square face, thin nose, dystopia canthorum, heterochromia, 80% sensorineural deafness, pigment changes e.g. white forelock

Waardenburg syndrome

11p15 duplication in some cases. Macrosomia, macroglossia, transverse linear groove in earlobe, hemihypertrophy, exomphalos, risk of neoplasia esp Wilm's, renal adenoma, hepatoblastoma

Beckwith-Wiedemann syndrome

Triangular thin face with prominent forehead and small chin, CHD esp. peripheral pulmonary stenosis, vertebral anomalies (butterfly vertebrae), ocular abnormalities - persistent posterior embryotoxin, renal involvement, pruritus, xanthomas, intralobar hypoplasia

Alagille syndrome (arteriohepatic dysplasia)

AR, pancreatic insufficiency, failure to thrive, leucopenia esp. neutrophils, gingivities with mandibular alveolar bone destruction, hepatomegaly, renal tubular dysfunction, pancytopenia in 25%

Scwachman-Diamond syndrome

AD, type 3 collagen, hyperextensibility, poor wound healing, risk of aortic dissection and aortic regurgitation, blue sclerae, congenital diaphragmatic hernia/hiatus hernia, risk of intracranial haemorrhage

Ehlers-Danlos syndrome

AD, long limbs, ectopia lentis, arched palate, joint laxity, risk of hernias, kyphoscoliosis, pectus excavatem, medial necrosis in aorta leading to dilatation, mitral regurgitation, pneumothorax

Marfan syndrome

AR, vascular arterial thrombii, risk of CVA, MI and mental retardation, lens dislocation, AR and MR, urine

Homocystinuria

Infantile cortical hyperostosis affecting flat bones especially skull, mandible and clavicles, ulna, radius, intraperiosteal inflammation with new bone formation

Caffey disease

AR, narrow chest, diaphragmatic respirations, early presentation with respiratory distress

Jeune asphyxiating thoracic dystrophy

Poor intrauterine mobility, conglomeration of limb contractures with hips and wrists contracted in flexion, muscular wasting, reduced intrauterine movement

Arthrogryposis multiplex

Macrosomia, excessive growth to normal adult height, large head, large hands and feet, intellectual retardation with clumsiness

Soto syndrome (cerebral gigantism)

Congenital paralysis of VIth and VIIth cranial nerves as a result of agenesis of their brainstem nuclei, associated with MSK defects

Moebius syndrome

Hyperchloraemic, hypokalaemic, metabolic acidosis, renal stones, urine pH >5.5, plasma HCO3 <10, reduced H excretion

Type 1 distal renal tubular acidaemia

Hyperchloraemic, hypokalaemic, metabolic acidosis, renal stones, urine pH >5.5, plasma HCO3 <10, reduced H excretion. Only one with stones

Type 1 distal renal tubular acidaemia

Hyperchloraemic metabolic acidaemia with normal anion gap, aldosterone deficiency causing reduced H and NH3 excretion, minimum urine pH <5.5, K is high

Type 4 renal tubular acidaemia

Hyperchloraemic metabolic acidaemia, HYPOphosphataemia, phosphaturia, mod-severe hypokalaemia, tubular proteinuria

Fanconi syndrome

Anterior horn cell disease, AR, can present in intrauterine with reduced movements and polyhydramnios, neonatal period, death in first year, proximal muscle weakness, hypotonia, abdominal breathing

Werdnig-Hoffman disease

Autoimmune systemic vasculitis with transmural fibroid necrosis in small-medium size vessels affecting kidneys, heart, liver, GI tract. Dx 3 of - weight loss 4kg, livedo reticularis, testicular pain, myalgia, leg weakness/tenderness, mononeuropathy/polyneuropathy, diastolic BP>90, elevated urea and creatinine, hep B surface antigen/antibody, arteriogram demonstrating aneurysms, polymorphonuclear neutrophils

Polyarteritis nodosa

X-linked, metabolic overproduction of uric acid, uric acid calculi, self-injury, cerebral palsy, acidic urine with increased urate crystals

Lesch-Nyhan syndrome

Craniosynostosis, palpable suture margins, ocular proptosis, maxillary hypoplasia, conductive hearing loss, optic atrophy, AD, long arm chromosome 10

Crouzon syndrome

Sporadic, hypertelorism, anti-mongoloid slant, CLAP, hypoparathyroidism, hypocalcaemia, tetany, cell mediated immunodeficiency, absent thymus and reduction in T cells, TOF, right sided aortic arch, truncus arteriosus, interrupted aortic arch

DiGeorge Syndrome (sporadic 22q deletion)

X-linked. Bilateral cataracts, glaucoma, learning difficulties, hypotonia, renal involvement including Fanconi syndrome, oculo-cerebro-renal syndrome

Lowe syndrome

Microdeletion of chromosome 16p13, short broad toes, microcephaly, maxillary mandibular hypoplasia, beaked nose, broad thumbs with distal phalanx displaced radially (talpism), poor growth, learning difficulties

Rubinstein Taybi syndrome

Hexosaminidase A deficiency, gangliosides accumulation, progressive neurological deterioration with developmental regression, spot

Tay Sach's disease

AR organic acidaemia, poor feeding in 2-3 days, focal neurological signs inc athetoid, hypertonia, sptasticity, opisthotonus, thrombocytopenia,

Maple syrup urine disease

GALT deficiency, oil drop shaped cataracts, neonatal conjugated jaundice, proximal renal tubular acidosis, hepatomegaly, hypoglycaemia, measure red cell enzymes to diagnose

Galactosaemia

Ankle oedema, pansystolic heart murmur, hepatomegaly, headache, insomnia, aphonia. In infancy - weak cry, lethargy, irritable, seizures

Beri beri (thiamine deficiency)

Diarrhoea, photosensitive dermatitis, dementia, lesions around neck called Casal's necklace

Pellagra (niacin deficiency)

AD anaemia caused by bone marrow failure, raised EPO, webbed neck, short stature, cleft palate, thumb anomalies, microcephaly, hypertelorism, micrognathia, CHD, risk of myelodysplastic syndrome and AML

Diamond-Blackfan syndrome

X-linked, scapulae nodules, due to deficiency of lysosomal enzymes that degrade GAGs, varying progressive mental and physical deterioration, cardiac valvular dysfunction, dysotosis multiplex, less severe

Hunter's (MPS2)

AR, more severe, corneal clouding, no scapulae nodules

Hurler's

Unilateral ptosis that is eliminated on opening the mouth

Marcus-Gunn syndrome

Type 2 glycogen storage disorder, glycogen accumulates in liver and muscles, hypotonia, progressive weakness, absent reflexes, hepatomegaly, cardiomegaly, die in first 2 years of cardiomyopathy or aspiration pneumonia

Pompe's disease

Selective slow growing tumour of anterior hypothalamus, presents by 6 months with severe failure to thrive and cachexia in a child with normal intake, alert and startled appearance (Collier's sign) due to eyelid retraction, hypoglycaemia, optic atrophy, nystagmus

Russell diencephalic syndrome

Congenital camptodactyly (fixed flexion deformity of the digits), arthritis, pericarditis

CAP syndrome

High arched palate, cleft palate, micrognathia, secondary posterior displacement of the tongue owing to small mandible causing respiratory obstruction, feed with orthodontic teats and dental plates

Pierre-Robin syndrome

AD inheritance - Pierre robin associated with severe myopia, cataracts and deafness

Stickler syndrome

AD inheritance, first branchial arch defect, micrognathia, antimongoloid palpebral fissures, colobomata, low-set eyes, deafness, deformed external ears with preauricular sinuses, sometimes absent external auditory canal, CHD commonly VSD, radial and ulna fusion, sometimes mental retardation

Treacher Collins syndrome

Fusion of two or more cervical vertebrae into a single bony mass leading to short neck, low hairline, kyphoscoliosis, Sprengel deformity, cranial nerve palsies, 1/3 deaf, syringomyelia and syringobulbia

Kippel-Feil syndrome

AR. Occipital encephalocoele, post-axial postydactyly, polycystic kidneys, if encephalocoele is large may need removal

Meckel-Gruber syndrome

Abnormal development of first and second branchial arch. Asymmetrical face, coloboma, epibulbar dermoids, low set ears, abnormal outer ear, deafness, vertebrae fused, short neck, renal and CVS anomalies

Goldenhar association (oculo-auriculo-vertebral dysplasia)

Sporadic. Complete or partial aplasia of pectoralis major causing flattening of hemithorax on the same side, loss of breast and subcutaneous tissue, inversion of nipple, sometimes ipsilateral deformities

Poland syndrome

AD. Storage disorder resulting in progressive mental retardation and CP. Blindness with optic atrophy. Seizures esp. myoclonic, death in teenage years. EEG shows high amplitude spikes by photic stimulation

Batten syndrome

Myxoedematous macroglossia, hoarse cry, hypotonia, unconjugated hyperbilirubinaemia, umbilical hernia, constipation, transient/recurrent hypothermia, enlarged posterior fontangelle, bradycardia, cutis marmorata

Congenital hypothyroidism

Seizure disorder for 70%, aphasia (receptive/expressive), normal hearing, bitemporal anomalies on EEG, occurs around 5.5

Landau-Kleffner syndrome

Presents in first 3 years with hypoglycaemia, hepatomegaly (due to fatty infiltration), and sudden death, often brought on by fasting or vomiting. As gaps grow between feeds risk increases. Bloods show anion gap and low HCO3. Hypoglycaemia in absence of ketones. Rx with high carb diet and avoiding fasting.

Medium-chain acyl-CoA dehydrogenase deficiency

Long QT with congenital deafness. Normal QTC 0.35-0.43.

Jervell-Lange-Nielsen syndrome.

Variant of Guillain-Barre syndrome that affects facial nerves, in particular facial nerve palsy

Miller Fischer syndrome

Female only, CNS involvement with severe mental and developmental retardation, infantile spasms, eye defects including retinal lacunae (white lesions), choridoretinitis and colobomata, costovertebral abnormalities

Aicardi syndrome

Elevated long chain fatty acids. Peroxisomal disorder, congenital hypotonia, seizures, mental retardation, facies, dolichocephaly, narrow high forehead, large fontanelles, pigmentary retinopathy, corneal opacities and cataracts, hepatomegaly and hepatic fibrosis leading to cirrhosis, renal impairment and polycystic kidneys

Zellweger syndrome (cerebro-hepato-renal syndrome)

Colobomata, heart defects (fallot, vsd, aortic arch), choanal atresia, growth and mental retardation, genitourinary abnormalities, ear abnormalities

CHARGE syndrome

Diabetes insipidus, diabetes mellitus, optic atrophy, deafness

DIDMOAD syndrome

Short stature, microcephaly, skin photosensitivity, DNA fragility

Bloom syndrome

IUGR, mental and growth retardation, characteristic features with bushy eyebrows, curly eyelashes, low hairline, low ears, micrognathia, thin lips, anteverted nose and downturned mouth, limb defects including small hands and feet with lobster hand, excessive hair with CV defects esp ASD/VSD

Cornelia de Lange syndrome

Lentigines, ECG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth and deafness

Leopard syndrome

AD. Limb defects - thumb/radius/ulna hypoplasia - mainly hypoplastic thumbs and absent radii, CV defects (ASD:VSD 2:1)

Holt-Oram syndrome

AD. Perioral pigmentation, intestinal polyposis.

Peutz-Jeghers

AD. Multiple telangiectasia that can occur anywhere but esp. skin, GI tract, brain, organs and increase with age. Bleeding causes complications at site of bleed. AV fistula which may produce cyanosis if L to R shunt

Hereditary telangiectasia

Hypopituitarism, optic nerve hypoplasia and absence of septum pellucidum

Septo-optic dysplasia

Vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL

AD inheritance (80% spontaneous), large head, small foramen magnum, saddle nose, concave posterior border of vertebrae, lumbar lordosis, vertebral disc herniation, short humerus, trident fingers

Achondroplasia

Small chests, lethal, fishbone vertebrae, telephone handle femurs

Thanatophoric dwarfism

60-80% AD. Short, wormian bones on skull, bony fragility with with recurrent fratures, scoliosis, blue sclerae, conductive hearing deafness, hypoplastic translucent teeth, aortic valve regurgitation

Osteogenesis imperfecta Type 1

AD/AR. Severe, multiple fractures at birth, dark blue-grey sclerae, triangular face with beaked nose, stillborn/fatal

Ostoegenesis imperfecta Type 2

AD/AR. Severe osteoporosis with fractures, progressive shortening and bone deformity, normal sclerae, abnormal teeth, easy bruising

Osteogenesis imperfecta type 3

AD. Bony fragility varies from mild to moderate. normal sclerae.

Ostoegenesis imperfecta type 4

Skeletal - short stature, post-axial polydactyly, acromelic dwarfism, short fingers (brachydactyly), ASD, ectodermal dysplasia (fine sparse hair, hypoplasic nails, teeth abnormalities, congenital teeth)

Ellis van Creveld syndrome

AR inheritance. similar to achondroplasia. 30% cataracts, cartilage abnormality with calcium stippling, mental retardation, increased risk of CVD

Conradi syndrome

Short stature, short trunk, kyphoscoliosis, mild rhizomelic limb shortening, flat face, myopia, epiphyseal fragmentation which may be seen on X-Ray

Spondyloepiphyseal dysplasia

Sparse hair, resembles achondroplasia, normal head, no trident hands, increased risk of infections

Cartilage-hair syndrome

AD inheritance. Mild dwarfing. Delayed ossification of fontanelles and sutures resulting in bossing of frontal bone, small nasal bridge and shallow orbits, narrow thoracic cavity , absent lateral clavicle, late eruption of teeth, narrow pelvis, no mental retardation

Cleidocranial dysotosis

IUGR, hepatosplenomegaly, jaundice, thrombocytopenia, chorio-retinitis, cataracts, cardiac lesions (PDA), encephalitis, deafness, bony/celery stick metaphysis, purpura (blueberry muffin)

Congenital rubella

IUGR, hepatosplenomegaly, jaundice, chorioretinitis, microcephaly, encephalitis, cerebral calcification, deafness, purpura, pneumonitis

Congenital CMV - raised IgM to CMV and urinary CMV excreation

IUGR, hepatosplenomegaly, jaundice, chorioretinitis, encephalitis, cerebral calcification, deafness

Congenital toxoplasmosis

Fibrous dysplasia, hyperpigmented skin lesions including cafe au lait, hyperfunctioning endocrine disease (precocious puberty, testicular abnormalities, hyperthyrodism, GH excess, Cushing's, hypophosphataemia)

McCune Albright syndrome

Deficiency of muscle phosphorylase, fatigue and muscle pain during exercise, can cause renal complications with myoglobinuria

McArdle's disease

Episodic apnoea/tachypnoea with nystagmus, ataxia, developmental delay and cerebellar vermian dysgenesis. Many have abnormal breathing, some retinal dystrophy. Molar tooth sign on MRI axial images.

Joubert's syndrome

Recurrent seizures (epilepsy) that begin early in life. Affected individuals have multiple types of seizures (most common seizure type is tonic seizures, also common are atypical absence seizures), a particular pattern of brain activity (called slow spike-and-wave), and impaired mental abilities. Treated with sodium valporate

Lennox-Gastaut syndrome

AR. Hypokalaemia, metabolic alkalosis, hypomagesaemia, HYPOCALCIURIA, normotensive. Distal convoluted tubule, adolescence.

Gitleman's syndrome

Congenital nephropathy, Wilm's tumour, intersex features, also at risk of gonadoblastoma

Denys Drash syndrome

Hand regard

3 months

Absence of head lag, lifting head and chest when prone

3 months

Turning prone to supine

3-4 months

Turning supine to prone

5-6 months

Sitting with support

6 months

Reach for, transfer and mouth objects

6 months

Look for fallen toy

9 months

Sit unsupported

8 months

AR. lack of the enzyme 'glucocerebrosidase’. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Painless hepatomegaly/splenomegaly, hyperplenism and pancytopenia, sometimes impaired olfaction/cognition/myoclonus/convulsions, osteoporosis

Gaucher syndrome

X linked, absent B cells and normal T cells. Onset after a few months with infections of lungs and paranasal sinuses of encapsulated bacteria e.g. Staph aureus, S pneumoniae, Haemophilus. Minimal lymphoid tissue. Treat with IVIG and aggressive abx.

Infantile sex-linked hypogammaglobulinaemia (Bruton disease)

Abnormality of B cells to produce antibodies, normal circulating B and T cells. Reduced IgA especially. Presents late childhood and econd decade with chronic and recurrent sinopulmonary infections with chronic diarrhoea often secondary to Giardia. Lymphadenopathy, splenomegaly, increased autoimmune disorders.

Common variable immunodeficiency

Failed differentiation of stem cells to T and B cells. X linked/AR. 50% adenosine deaminase deficiency. Presents <3 months with failure to thrive, resp infections e.g. pneumocystis or CMV, GI infections eg diarrhoea, candidasis, cryptosporidium, giardia. Chronic skin infections. No lymphoid tissue. Most lymphopoenia.

SCID

AD. Combined B and T cell defect. Serum IgE very high - coarse facial features, recurrent skin sepsis with abscesses, dermatitis, sinopulmonary disease

Job syndrome (hyper IgE syndrome)

Fine pincer grip using thumb and forefinger

9 months

Opportunistic bacterial infections such as meningococcous and gonococcus occur due to defects in the lytic complement pathway, used to form the MAC complex that causes cell lysis by osmotic shock

C5-9

AR. Chromosome breakage studies - rare cause of aplastic anaemia. Abnormal thumbs, low platelets, low Hb, present after age 3 with tiredness, easy bruising, easy infections and bleeding. At higher risk of tumours or leukaemia. Commonly abnormal kidneys e.g. agenesis/horseshoe kidney.

Fanconi anaemia