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Winter Shortland Temple syndrome

Overview

A congenital syndrome characterised by multiple birth defects and dysmorphic features

Symptoms - Winter Shortland Temple syndrome

* Craniosynostosis * Micrognathia * Broad thumbs * Syndactyly * Developmental delay

Causes - Winter Shortland Temple syndrome

1. Grossmotor delay 1. Cerebralpalsy 2. Neuromuscular disorders 2. Delayed or impaired language 1. Impairedhearing 2. Receptive and expressive language disorders 3. Pervasive developmental disorders 3. Static global delay 1. Chromosomaldisturbances 2. Maternal or infant undernutrition 3. Maternal drug or alcohol use 4. Cerebral malformation 5. Hypoxic-ischemic encephalopathy 6. Intracranial hemorrhage 7. Infection 8. Brain tumor 9. Cerebrovascular disorders 10. Psychologic disturbances 11. Unknown 4. Progressive global delay 1. Neurocutaneousdisorders 1. Tuberoussclerosis 2. Neurofibromatosis 2. Metabolic brain disorders 1. Diseasesprimarily affecting gray matter (without visceral storage) 1. GM-2 gangliosidosis(Tay-Sachs disease) 2. Neuronal ceroid lipofuscinoses 3. Alpers disease 4. Menkes disease 5. Rett syndrome 2. Diseases primarily affecting gray matter(with visceral storage) 1. GM-1 gangliosidosis 2. GM-2 gangliosidosis (Sandhoff disease) 3. Niemann-Pick disease 4. Gaucher disease 5. Fucosidosis 6. Sialidosis type II 3. Diseases primarily affecting whitematter 1. Galactosemia 2. Phenylketonuria 3. Maple syrup urine disease (intermediate) 4. Homocystinuria 5. Urea cycle defects 6. Canavan disease 7. Alexander disease 8. Globoid leukodystrophy (Krabbe disease) 9. Pelizaeus-Merzbacher disease 10. Metachromatic leukodystrophy 4. Diseases affecting both gray and whitematter 1. Mucopolysaccharidoses 1. Mucopolysaccharidosistype I (Hurler disease) 2. Mucopolysaccharidosis type II (Hunterdisease) 3. Mucopolysaccharidosis type III (Sanfilippodisease) 4. Mucopolysaccharidosis type VII (Slydisease) 2. Mitochondrial disorders 3. Peroxisomal disorders 5. Miscellaneous 1. Lesch-Nyhan syndrome 3. Congenital hypothyroidism 4. Human immunodeficiency virus infection

Prevention - Winter Shortland Temple syndrome

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Diagnosis - Winter Shortland Temple syndrome

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Prognosis - Winter Shortland Temple syndrome

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Treatment - Winter Shortland Temple syndrome

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Resources - Winter Shortland Temple syndrome

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