Ellis-van Creveld (Chondroectodermal Dysplasia) Think: Jeune + ectodermal dysplasia + heart Jeune: short ribs, narrow chest, polydactyly Ectodermal: dysplastic nails, natal teeth, hypodontia Heart: common atrium Remember: Ellis = "Extra" lip frenula and fingers

Cohen syndrome = a “Golgi”-opathy: C — Cognitive impairment O — Obesity (truncal) H — Hypotonia + hypermobility E — Eyes: myopia + retinal dystrophy N — Neutropenia Think: Bardet-Biedl–like, but no polydactyly + neutropenia/hypermobile joints.

XIST (responsible for X chromosome inactivation) is located on Xq13. Remember this with the phrase: "The 13th floor does not eXIST in many hotels" 🏨

Classical EDS vs Vascular EDS c*LASS*ical LAx joints, Stretchy Skin "classic = elastic" Due to variants in COL5 (think "cLA55ical", "5" looks like an "S") VASCULAR V ascular EDS → A orta, S igmoid C olon, U terus, L ung A ll R upture Due to variants in COL3 ("V" has 3 points)

*Emery*-Dreifuss muscular dystrophy is associated with *Every* mode of inheritance: autosomal dominant, autosomal recessive, and X-linked. Due to variants in multiple genes (see table below; from genereviews: ncbi.nlm.nih.gov/books/NBK14… )

To remember Farber disease, think Far-brrr…🥶 Things that happen when you're cold: 1. Goosebumps → nodules 2. Too cold to move → stiff joints, muscle weakness 3. Shivering → seizures 4. Chattering teeth → weak, hoarse cry 5. Turn off the AC → Acid Ceramidase (AC) defic'y

Temple (mat UPD14) vs Prader-Willi (mat UPD15) Both imprinting disorders have hypotonia→obesity, mild ID, short stature, & pubertal differences ⏰Temple: EARLY puberty ⏰PWS: DELAYED puberty Remember: "arrive EARLY to pray at the Temple" 🏛️ (early puberty in Temple) #GeneChat

Griscelli syndrome ⚪️ Grey hair ("gris" is Spanish for "grey") 🧠 Intellectual disability 🧠 Seizures 🦠Cells (immune deficiency) #GeneChat

Excited to announce the StudyRare Podcast! This will serve as an audio version of the StudyRare newsletter & will include additional content for genetics trainees. In this episode, we highlight sessions from Day 1 @ #ACMGMtg25 View our post here: studyrare.substack.com/p/epi…

In Klippel-Feil, the cervical vertebrae "fail" to separate and remain fused. This causes a short neck with limited mobility. Patient may also have kidney anomalies. The letters "ppe" in "Klippel" look like 3 vertebrae stacked together. #GeneChat

📢 We are excited to announce that registration is open for our Bootcamp to prepare for the American Board of Medical Genetics and Genomics (ABMGG) exam! For more info & to register, please visit our website: studyrare.com/abmgg-bootcamp Please feel free to reach out with questions!

HHH syndrome (Hyperornithinemia-Hyperammonemia-Homocitrullinuria) Defective ornithine transport into mitochondria→ hyperornithinemia → urea cycle blocked → hyperammonemia Excess carbamoyl phos reacts w/ lysine (instead of ornithine) & forms homocitrulline (homocitrullinuria)

Lysinuric protein intolerance is due to deficient transport of dibasic amino acids (Orn, Lys, Arg). The disease's name reflects the labs & symptoms: *Lysinuria* is ↑ lysine in the urine *Protein intolerance* is due to urea cycle dysfunction (b/c of ↓ ornithine and arginine).

Use this face to remember the 4 stages of incontinentia pigmenti🌀 1️⃣ Blisters @ birth (eyes👀 look like "B") 2️⃣ Wart-like rash (mustache shaped like "W") 3️⃣ Swirling hyperpigmentation (mustache curls) 4️⃣ Linear hypopigmentation (line-shaped mouth) #GeneChat