Science Quiz / What's my Syndrome?

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Can you name the medical syndrome from its cause and clinical features?

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A collagen abnormality, causing hyper-mobile joints, pain, stretchy skin and heart problems
Disorder of the X chromosome, linked with autism. Also causes elongated forehead, large testes, stereotypic movements and abnormal ear shape
Damage to sympathetic trunk e.g. by lung cancer. Causes partial ptosis, anhidrosis and misosis
Swelling or pressure on the elbow that leads to ulnar nerve palsy
Caused by enterochromaffin cell tumours in GI tract, causes flushing, diarrhoea, abdo pain, hypotension, wheezing, palpitations
Rare chromosome 15 neurological disorder, causing learning disability, micorcephaly and epilepsy
Caused by fractures or surgery, presents with petichiae, respiratory distress, CNS symptoms + fever
A gastrin secreting tumour in the pancreas, causing multiple severe peptic ulcers.
Trisomy 21, at higher risk with older mothers and family history. Causes mental deficiency, flat philtrum, high palate and congenital heart defects
Grey matter disorder of girls. Causes autistic-like symptoms, small hands and feet and stereotyped movements.
rheumatoid arthritis, splenomegaly and neutropenia
XXY Chromosomal disorder, causing phenotypically male person with gynaecomastia, absence of secondary sexual features and learning disability
Caused by a failure to breathe deep enough to fulfil body's oxygen needs (often in the obese). Causes snoring, headaches and hypertension.
Caused by a teratogen, leads to neurological abnormalities, small face + nose, eye folds and indistinct philtrum.
Anti-glomerular basement antibodies that cause damage to lungs and kidneys.
Pressure on brachial plexus + subclavian vessels from extra rib or tumour. Causes arm + head ischaemia + pain
Due to lung cancer compressing a vessel, this causes puffy distension of the head and arms.
Chromosome 15 mutation causing learning disabilities, excessive hunger, short stature and behavioural difficulties
Uric acid disorder causing itchy skin and skin picking
Caused by drug interactions or overdose involving many antidepressants. Causes seizures, clonus, sweating, hyperreflexia and fever.
Can be caused by aspirin consumption in infancy, or a viral illness. Causes rash, vomiting, liver damage and encephalopathy. And possibly death too.
Genetic connective tissue disorder causing congenital heart defects, eye problems, long slender limbs and spine abnormalities
Due to aPl antibodies, causes thrombi and sequelae and spontaneous miscarriage
Monosomy X, causes short stature, subfertility, unusual ear shape and heart defects.
Widespread inflammation and necrosis of the skin - can be life threatening. Triggered by antibiotics, other medications or infection.
Causes oligomenorrhoea, obesity, acne, hirsutism and reduced fertility. Associated with high LH levels
Autosomal dominant condition causing small fingernails + kneecaps
Damage to throacic inlet and brachial plexus by lung cancer. Causes partial ptosis, anhidrosis, miosis, shoulder and arm pain and muscle atrophy in arm.

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