Cushing syndrome Pictures

What is Cushing syndrome?

A Cushing syndrome is a group of symptoms that develop as a result of an extremely high cortisol level in the body. Hence, the condition is also called hypercortisolism. There are a variety of reasons why the level of cortisol goes out of control. ^{(1, 2, and 3)}

Apert Syndrome Pictures

What is Apert syndrome?

An Apert syndrome also known as Acrocephalosyndactyly syndrome is a genetic disorder that primarily affects the skull bones.

Digeorge Syndrome Pictures

What is a DiGeorge syndrome?

It is an immunodeficiency disorder caused by the absence of a small segment of chromosome 22. It is also known as 22q11.2 deletion syndrome.

Hurlers Syndrome Pictures

What is a hurler syndrome?

A hurler syndrome is a medical condition caused by a deficiency in alpha-L-iduronidase, an enzyme that breaks down mucopolysaccharide molecules. An absence of this enzyme causes abnormal accumulation of mucopolysaccharide in the body.

The condition is sometimes called hurler-Scheie syndrome because of the two clinical subtypes: Hurler syndrome and Scheie syndrome. ^{(1, 2, and 3)}

Sanfilippo Syndrome Pictures

What is a Sanfilippo syndrome?

A Sanfilippo syndrome is a genetic disease caused by gene deformity. It is also a metabolic and neurodegenerative disease. It is a metabolic disease in the sense that the body cannot break down mucopolysaccharides or glycosaminoglycans.


It is a neurodegenerative disease in the sense that it primarily affects the central nervous system. Over time, it damages the brain causing cognitive-related symptoms such as loss of speech, hyperactivity, seizures, sleeplessness, mental retardation, dementia, and death. ^{(1, 2, and 3)}

Klippel-Feil Syndrome Pictures

Klippel-Feil syndrome

What is a Klippel-Feil syndrome? It is a musculoskeletal defect characterized by union of two vertebrae in the neck. KFS is a congenital and genetic in nature, which means that the patient has it at birth. Klippel-Feil syndrome is a disease itself, but it can also be associated with other conditions such as hemifacial microsomia and Wildervanck syndrome. ^{(1, 2, and 3)}

Potter's Syndrome Pictures

What is a potter's syndrome?

It is named after Edith Potter, a pathologist who first described the characteristics of a Potter's syndrome. A Potter's syndrome is the term used to describe an infant with unusual physical appearance secondary to pressure in the uterus caused by oligohydramnios. The infant has a recessed chin, low set, cartilage deficient ears, parrot-beaked nose, and a prominent epicanthal fold. ^{(1, 2)}

Treacher Collins Syndrome Pictures

What is Treacher Collins syndrome?

It is a rare genetic condition affecting the head and face. It is also called mandibulofacial dysostosis. ⁽¹⁾

Ehlers Danlos Syndrome Pictures

Ehlers-Danlos Syndrome pertains to a group of connective tissue disorders. There are 13 subtypes and each has its own set of clinical criteria. The diagnostic criteria are used to distinguish EDS from other types of connective tissue disorders. ^{(1, 2)}