MTC Cases

What is this, and where is it commonly seen?

Single Palmar Crease, seen in Down Syndrome, Aarskog syndrome

What is this, and where is it commonly seen?

Clinodactyly, seen in Silver-Russell syndrome, Turner Syndrome

What is this, and where is it commonly seen?

Hypertelorism, Seen in Noonan syndrome, craniosynostosis syndrome, cri du chat syndrome

22Q11.2 Deletions (historically DiGeorge Syndrome)

a genetic disorder caused by a missing small segment of chromosome 22 that can affect almost every system in the body, there are proximal & distal deletions. Proximal deletions have significant health and development concers, while distal deletions are found in many healthy individuals.

Osteogenesis Imperfecta (OI)

Brittle Bone Disease, dominant condition due to varints in the COL1A1 or COL1A2 gene. Causes hearing loss, blue sclera, brittle teath, short stature, and bowing of the bones. Variable condition

Phelan Mcdermid Syndrome

Caused by a point variant or deletion of SHANK3, is an intellectual development disorder with significant behavior phenotypes

PIGA

Progressie Neurodegeneratie disorder, starts between 1 month and 1st year of life —> X-linked condition

Holt-Oram Syndrome

Congenital heart defect caused by TBX5, commonly causes atrial septal defect, cardiac arrhythmias, limb anomalies, and other skeletal abnormalities

Dyskeratosis Congenita

problem with machinery that maintains telomere length, fingernal and toenail abnormalities, Lacy pigementation of the skin, oral leukoplakia. variability and pleitropy

Turner Syndrome

Monosomy X, short stature and some skeletal differences, heart conditions, learning disabilites, absent puberty.

Smith-Magenis Syndrome (deletion of 17p11.2)

commone genetic cause of developmenal delays, autism, birth defects, behavioral differences, poor growth, endocrine abnormalities