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| Introduction | |
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| Adoption | |
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| Approach to the consultation with a child with dysmorphism, congential malformation, or developmental delay | |
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| Autosomal dominant (AD) inheritance | |
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| Autosomal recessive (AR) inheritance | |
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| Communication skills | |
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| Confidentiality | |
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| Confirmation of diagnosis | |
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| Consent for genetic testing | |
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| The genetic code and mutations | |
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| Genomic imprinting | |
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| Mitochondrial inheritance | |
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| Multifactorial inheritance | |
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| Reproductive options | |
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| Testing for genetic status | |
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| Useful resources | |
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| X-linked dominant (XLD) inheritance | |
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| X-linked recessive (XLR) inheritance | |
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| Clinical Approach | |
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| Ambiguous genitalia (including sex reversal) | |
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| Anal anomalies (atresia, stenosis and anterior placement) | |
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| Anterior segment eye malformations | |
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| Arthrogryposis | |
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| Ataxic adult | |
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| Ataxic child | |
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| Brachydactyly | |
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| Broad thumbs | |
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| Cardiomyopathy in children under 10 yrs | |
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| Cataract | |
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| Cerebellar anomalies | |
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| Cerebral palsy | |
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| Chondrodysplasia punctata | |
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| Cleft lip and palate | |
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| Coarse facial features | |
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| Coloboma | |
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| Congenital heart disease | |
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| Corneal clouding | |
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| Deafness | |
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| Developmental delay in the child with consanguineous parents | |
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| Developmental regression | |
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| Duane retraction syndrome | |
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| Dysmorphic child | |
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| Dystonia | |
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| Ear anomalies | |
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| Facial asymmetry | |
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| Failure to thrive | |
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| Floppy infant | |
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| Fractures | |
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| Generalised disorders of pigmentation (including albinism) | |
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| Hemihyperplasia and limb asymmetry | |
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| Holoprosencephaly | |
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| Hydrocephalus | |
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| Hypermobile joints | |
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| Hypoglycaemia in infancy | |
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| Hypospadias | |
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| Increased bone density | |
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| Large fontanelle | |
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| Laterality disorders including heterotaxy and isomerism | |
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| Leukodystrophy | |
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| Limb reduction defect | |
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| Lissencephaly and neuronal migration disorders | |
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| Lumps and bumps | |
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| Macrocephaly | |
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| Mental retardation with apparent X-linked inheritance | |
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| Mental retardation | |
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| Microcephly | |
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| Micrognathia and Robin sequence | |
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| Microphthalmia and anophthalmia | |
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| Minor congenital anomalies | |
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| Nasal anomalies | |
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| Neonatal encephalopathy and intractable seizures | |
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| Nystagmus | |
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| Obesity with and without developmental delay | |
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| Ocular hypertelorism | |
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| Oedema - generalised or puffy extremities | |
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| Oesophageal and intestinal atresia (including tracheo-oesophageal fistula)Optic nerve hypoplasia | |
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| Overgrowth | |
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| Patchy hypomelanotic skin lesions | |
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| Patchy pigmented skin lesions (including cafe au lait spots) | |
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| Plagiocephaly and abnormalities of skull shape | |
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| Postaxial polydactyly | |
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| Preaxial polydactyly | |
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| Prolonged neonatal jaundice and jaundice in infants below 6 months | |
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| Ptosis blepharophimosis and other eyelid anomalies | |
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| Radial ray and thumb hypoplasia | |
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| Retinal dysplasia | |
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| Retinal receptor dystrophies | |
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| Scalp defects | |
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| Seizures with developmental delay | |
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| Short stature | |
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| Skeletal dysplasia | |
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| Structural intracranial anomalies (agenesis of the corpus callosum, septo-optic dysplasia and arachnoid cysts) | |
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| Suspected non-accidental injury | |
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| Syndactyly | |
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| Unusual hair, teeth and nails | |
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| Common consultations | |
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| Achondroplasia | |
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| Autosomal dominant polycystic kidney disease (ADPKD) | |
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| Adrenoleukodystrophy (X-linked) | |
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| Alpha 1- antitrypsin deficiency | |
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| Alport syndrome | |
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| Androgen insensitivity syndrome (AIS) | |
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| Angelman syndrome | |
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| Autism and autistic spectrum disorders | |
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| Beckwith-Wiedemann syndrome | |
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| Congenital adrenal hyperplasia | |
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| Consanguinity | |
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| Craniosynostosis | |
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| Cystic fibrosis | |
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| Dementia | |
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| Diabetes | |
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| Dilated cardiomyopathy (DCM) | |
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| DNA repair defects | |
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| Duchenne and Becker muscular dystrophy (DMD and BMD) | |
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| Ehlers-Danlos syndrome (EDS) | |
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| Epilepsy in infants and children | |
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| Epilepsy | |
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| Facioscapulohumeral muscular dystrophy (FSHD) | |
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| Fragile X syndrome | |
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| Glaucoma | |
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| Haemochromatosis | |
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| Haemoglobinopathies | |
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| Haemophilia and other inherited coagulation disorders | |
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| Hereditary Haemorrhagic Telangiectasia (HHT) | |
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| Hereditary motor sensory neuropathy (HMSN) | |
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| Hereditary Spastic Paraplegia (HSP)Hirschprung disease | |
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| Huntington disease (HD) | |
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| Hyperlipidaemia | |
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| Hypertrophic cardiomyopathy (HCM) | |
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| Immunodeficiency | |
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| Incest | |
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| Leigh''s encephalopathy | |
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| Limb girdle muscular dystrophies | |
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| Long QT and Brugada syndromes | |
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| Marfan syndrome | |
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| Mitochondrial diseases | |
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| Myotonic dystrophy | |
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| Neural tube defects | |
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| Neurofibromatosis type 1 (NF1) | |
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| Noonan syndrome | |
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| Parkinson disease | |
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| Retinitis pigmentosa | |
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| Rett syndrome | |
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| Sensitivity to anaesthetic agents | |
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| Spinal muscular atrophy (SMA) | |
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| Stickler syndrome | |
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| Thrombophilia | |
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| Tuberous sclerosis (TS) | |
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| CancerBRCA1 and BRCA2Breast cancer | |
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| Cancer surveillance methods | |
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| Colorectal canc | |