Hereditary · Physical Diagnosis PDX

Arachnodactyly

2 patients · 4 clips

Derived from the Greek words “arachne,”, which means “spider”, and “daktylos,” which means “finger.” This condition describes long and slender digits and associated with Marfan’s syndrome and other connective tissue diso

Ehlers-Danlos Syndrome

1 patients · 2 clips

A connective tissue disease that manifests with increased laxity of the joints, tendons, and ligaments. Patients may have blue colored sclera. Hereditary Conditions Tutorial Patient 1: This patient is a resident physicia

High Arched Palate

5 patients · 7 clips

High-arched or “ogival” palate is a sign of Marfan’s syndrome. Hereditary Conditions Tutorial Patient 1: This is a young man with Marfan’s syndrome. Patient 2: This is a young man with Marfan’s syndrome. Patient 3: This

Marfan’s Syndrome- Increased wing span

2 patients · 2 clips

Chest wall deformities, including pectus excavatum and pectus carinatum (“pigeon chest”), are a sign of Marfan’s syndrome along with increased wing span. Hereditary Conditions Tutorial Patient 1: This is a young man with

Thumb/wrist sign

3 patients · 4 clips

Positive when the thumb protrudes from the clenched fist, in which the other four digits are flexed over the thumb. Hereditary Conditions Tutorial Patient 1: This is a young man with Marfan’s syndrome. This patient also

Syndactyly

1 patients · 1 clips

A condition characterized by the fusing of two or more digits. Hereditary Conditions Tutorial Patient 1: This is a young man with unusual facial features who was found to have polydactyly. He was referred to genetics cli

Pseudoxanthoma elasticum

1 patients · 1 clips

An autosomal recessive condition characterized by the mineralization of elastic fibers in some tissues. Skin lesions are characterized by yellow papular lesions that resemble xanthomas. Hereditary Conditions Tutorial Pat

Alkaptonuria

1 patients · 5 clips

A rare autosomal recessive condition that results in the accumulation of homogentisic acid in the blood and tissues. The classic finding is darkening of the urine when it is left exposed to open air, but other physical m

Charcot-Marie-Tooth Disease

1 patients · 2 clips

- Charcot-Marie-Tooth disease is the most common inherited cause of polyneuropathy - Pes cavus (high arched feet) and hammertoes (the proximal interphalangeal joint of the toe is bent upward) are commonly found on physic

Becker’s Muscular Dystrophy

1 patients · 2 clips

A genetic syndrome that results in overgrowth of the tissues. Findings include macroglossia and hemihyperplasia. Hereditary Conditions Tutorial Patient 1: This is a young patient with end stage heart failure related to h

Hereditary Hemorrhagic Telangiectasia

3 patients · 11 clips

Mucocutaneous findings- Patients with hereditary hemorrhagic telangiectasia develop arteriovenous malformations, including telangiectasias of the skin and mucosa, usually manifesting as small red dots. These are often se

Neurofibromatosis Type 1

4 patients · 7 clips

Café au lait macules are common and can be a normal finding, but are also seen in a number of neurocutaneous diseases such as neurofibromatosis. Hereditary Conditions Tutorial Patient 1: Patient 2: Patient 3: Patient 4:

Tongue Findings

1 patients · 1 clips

Mucocutaneous findings- Patients with hereditary hemorrhagic telangiectasia develop arteriovenous malformations, including telangiectasias of the skin and mucosa, usually manifesting as small red dots. These are often se