Niemann–Pick type C (NPC)

Here's what you need to know for the boards and the wards....

Read more: Niemann–Pick type C Mnemonic

Chromosome Cheatsheet

Here are some of the most important chromosome associations that you should know for boards and wards!:

Read more: Chromosome Cheatsheet

What is the Diagnosis and Causes?

Read more: Genetics Photo Quiz 1

Cri Du Chat ( Chromosome 5p deletion syndrome)

Ever wonder if Cri du chat really sounds like a cat?  Find out....

Edwards Syndrome (Trisomy 18)

Here's a cool way for football fans to remember some of the features of Edwards Syndrome by using Peyton Manning!

Read more: BaroneMnemonic: Edwards Syndrome

Patau Syndrome

Here's how to remember some important features of this trisomy:

Read more: Barone Mnemonic: Patau Syndrome

Patau Syndrome Video Mnemonic

Here's a way to remember some important features of Patau Syndrome (Trisomy 13) using the word "Microcephaly":

Read more: Patau Syndrome Video Mnemonic

What an amazing combination: Magic and Medicine!    Study hard because soon you'll be the one making the magic happen on the wards!!!

Lysosomal Storage Disease Video Mnemonic

Here's a simple way to remember key facts about the Lysosomal Storage diseases:

Read more: Lysosomal Storage Diseases

Hutchinson-Gilford Progeria Syndrome (HGPS)

Here are some testable points about Progeria!

Read more: Progeria

Adult Progeria (Werner's Syndrome)

Here are some key points about Werner's sydrome which was featured in the the Robbin William's movie "Jack"!

Read more: Adult Progeria (Werner's Syndrome)

Progeria vs Werner Syndrome CheatSheet

Here's a comparison of Progeria and Werners syndrome which are both characterized by premature aging.

Read more: Progeria vs Werner Syndrome CheatSheet

Sturge Weber Syndrome

Sturge Weber Syndrome is a neurocutaneous syndrome (Phakomatosis) that is caused by a sporadic congenital error in the development of the ectoderm (skin and CNS) and mesoderm (blood vessels) resulting in angiomas of the face and brain.

Characteristic features include:

• Port wine stain (nevus flammeus) located on the face in the trigeminal nerve distribution
• Ipsilateral leptomeningeal angiomas => "tram track" calcifications on CT scan
• Seizures
• intellectual disability
• increased risk of glaucoma

A genetic somatic activating mutation in the GNAQ gene during fetal development has been found to cause both port wine stains (a common congenital malformation) and the Sturge Weber Syndrome.

• GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C.
• A somatic mutation during development explains the fact that these disorders occur sporadically and are not inherited!

Port-wine stain (nevus flammeus)

Pathology of the Stars:

Former President of the Soviet Union, Mikhail Gorbachev has a port-wine stain (nevus flammeus) on his forhead.

Note: He does NOT have Sturge Weber sydrome.

Photo Attribution: RIA Novosti archive, image #850809 / Vladimir Vyatkin / CC-BY-SA 3.0

Tuberous Sclerosis

Here's a neat way to remember some of the key features of Tuberous Sclerosis:

Read more: Tuberous Sclerosis Mnemonic

Arabic Mnemonic for the Lynch Syndrome (HNPCC)

Here's a way to use Arabic to remember the key points of the Lynch Syndrome:

Chromosome Numbers

Here's how to remember the chromosome number for autosomal dominant polycystic kidney disease and Polyposis:

Read more: Barone Mnemonic: Chromosome Numbers

Genomic Imprinting

Here’s a simple way to remember the inheritance of deletions in  Genomic Imprinting :

Read more: Barone Mnemonic: Genomic Imprinting

Pedigree Analysis

Read more: Pedigree Analysis Quiz

Marfan Syndrome Mnemonic

Here's a way to use the "name" to remember some important features of Marfans Syndrome:

Read more: BaroneMnemonic: Marfan Syndrome

Rett Syndrome

• Rare genetic neurodevelopmental disorder affecting mostly females.
• Caused by mutations in the MECP2 gene on the X chromosome.
• The majority of cases are caused by new mutations.
• They often exhibit autistism-like features in the early stages.
• Repetitive hand wringing or moving their hands to their mouth is a charaterisitic hallmark feature!

Read more about the features of Rett Syndrome at the NINDS.