Syndromes Flashcards
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
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)
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)
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
Mixed upper and lower motor signs, cardiomyopathy, scoliosis, pes cavus
Freidreich’s ataxia
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
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,
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)
Congenital facial and abducens nerve palsy, ectropion, epiphoria, exposure keratopathy, abduction weakness, micrognathia
Moebius syndrome
Flaccid weakness, extensor plantars, increased deep tendon reflexes, nonspecific illness, decreased sensation bilateral lower limbs
Transverse myelitis
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
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
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
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
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
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
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
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
Polyhydramnios, prematurity, hypokalaemic alkalosis, hypercalciuria/nephrocalcinosis, normal magnesium, impaired concentration, presents antenatally, neonatal or childhood
Bartter’s syndrome - treat with indometacin
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)
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
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
5p deletion, severe mental retardation, microcephaly, pathopneumonic sounds
Cri-du-chat syndrome
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
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
