All the Pediatric syndromes here!

[Surgical FMG]

Another idea of mine whilst revising. I realised that Eponymns by Dr Andrew Yee (iPhone app) doesn't have a category for Pediatrics... if we have this compiled, and send it to him, it might help him gather and categorise things better.

Lets begin! You can either just list the diseases/syndromes, or add a short writeup on it. real short, twitter length.

• Prader-Willi
• Angelman
• Edwards
• Patau
• Noonan
• DiGeorge's (aka velocardiofacial)
  
• Marfan's
• William's
• Wilm's tumor
  

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[Surgical FMG]

http://www.nccpeds.com/powerpoints/syndrome.html
has some too. if someone is kind enough to type them out, that would be great.

 

[codac]

http://www.nccpeds.com/powerpoints/syndrome.html
has some too. if someone is kind enough to type them out, that would be great.

http://www.nccpeds.com/powerpoints/syndrome.html - Went ahead and typed out as many syndromes as possible in my spare time - definitely not all of them, so if anyone wants to continue the list...

Progeria – syndrome is characterized by alopecia, atrophy of SubQ fat, and accelerated aging.
Velo-cardial-facial (Sphrintzen) - syndrome is characterized by mild intellectual impairment, cleft palate, craniofacial defects, heart defect.
Peutz-Jeghers - syndrome is characterized by dark spots on lips, GI tract polyps.
Neurofibromatosis - syndrome is characterized by nodules over nerves, cafe-au-lait spots, axillary freckling.
Van der Woude - syndrome is characterized by cleft lip and palate, lip pits, missing 2nd premolars, autosomal dominant.
Klienfelter (XXY) - syndrome is characterized by small male genitals, dull mentality, long limbs, tall.
Prader-willi - syndrome is characterized by hypotonia, obesity, small hands/feet.
Dubowitz - syndrome is characterized by cartoon-like face, infantile eczema, small stature, microcephaly.
Klippel-Trenany-Weber - syndrome is characterized by hemihypertrophy, hemangioma
Von-Hippel Lindau - syndrome is characteized by retinal and cerebellar hemangioma.
Russell-Silver - syndrome is characterized by prenatal-onset short stature, late fontanelle closure, incurved 5th finger.
Potter sequence - syndrome is characterized by pulmonary hypoplasia, in utero renal insufficiency, malformed ears.
Septo-Optic Dysplasia - syndrome is characterized by hypoplastic optic nerves, no septum pellucidum, hypopituitarism.
McCune-Albright - syndrome is characterized by retinal and cerebellar hemangioma.
Holt-Oram - syndrome is characterized by upper limb defect, cardiac defect (ASD).
Achondrodysplasia - syndrome is characterized by short limbs, caudal spinal canal narrowing, 'dwarf'.
Children of PKU mothers - syndrome is characterized by MR, microcephaly, poorly defined philtrum, poorly controlled disease in mother.
Incontinentia pigmenta - syndrome is characterized by swirled pigmented skin lesions, dental anomalies, X-linked dominant.
Mulibrey nanism - syndrome is characterized by small stature, pericardial restriction, yellow dots on fundus.
Hunter - syndrome is characterized by coarse facies, stiff joints, clear cornea, MPS deposition, only in males.
Eagle-Barrett (prune belly) - syndrome is characterized by posterior urethral valves, cryptorchidism, lack of abdominal muscles.
Fabry - syndrome is characterized by dark nodular angectasias (esp. in navel), attacks of burning pain, and renal insufficiency.


Hope this helps a little!

 

[Surgical FMG]

That's great! I'll try to pop in soon to continue this list. Hopefully dr yee will categorise paeds in his app soon!