Pediatrics
Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
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Pediatrics syndromes
32
Pediatrics
Apert syndrome
Craniosynostosis with severe syndactyly of hands and feet.
Pediatrics Bare lymphocyte syndrome
Severe combined immunodeficiency from absent MHC expression.
Pediatrics Blue baby syndrome
Cyanosis from methemoglobin in infants.
Pediatrics Cardio-facio-cutaneous syndrome
RASopathy with heart defects, sparse hair and ichthyosis.
Pediatrics Cri du chat syndrome
5p deletion with cat-like cry and intellectual disability.
Pediatrics Crouzon syndrome
Craniosynostosis with midface hypoplasia and proptosis.
Pediatrics Down syndrome
Most common chromosomal cause of intellectual disability.
Pediatrics Dravet syndrome
Epileptic encephalopathy with febrile seizure onset.
Pediatrics Edwards syndrome
Trisomy 18 with severe malformations and early death.
Pediatrics Fetal hydantoin syndrome
Teratogenic effects of phenytoin exposure in utero.
Pediatrics Fetal valproate syndrome
Teratogenic effects of valproate in pregnancy.
Pediatrics Goldenhar syndrome
Hemifacial microsomia with ear, eye and vertebral anomalies.
Pediatrics Gray baby syndrome
Cardiovascular collapse in neonates given chloramphenicol.
Pediatrics Henoch–Schönlein purpura syndrome
IgA-mediated small-vessel vasculitis in children.
Pediatrics Hyper-IgM syndrome
Immunodeficiency with elevated IgM and low IgG, IgA, IgE.
Pediatrics Hyperimmunoglobulin E syndrome
Recurrent staphylococcal infections, eczema and high IgE.
Pediatrics Kawasaki syndrome
Acute medium-vessel vasculitis of early childhood.
Pediatrics Kernicterus syndrome
Bilirubin deposition in basal ganglia causing neurologic injury.
Pediatrics Morquio syndrome
Lysosomal storage disease with skeletal dysplasia.
Pediatrics Patau syndrome
Trisomy 13 with holoprosencephaly and cleft lip.
Pediatrics Pfeiffer syndrome
Craniosynostosis with broad thumbs and great toes.
Pediatrics Reye syndrome
Acute encephalopathy with fatty liver after viral illness and aspirin use.
Pediatrics Sanfilippo syndrome
Lysosomal storage disease with severe neurodegeneration.
Pediatrics Scheie syndrome
Attenuated MPS I with corneal clouding and joint stiffness.