List of articles in "Disease" category - Page 14

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) sometimes called Jankovic–Rivera syndrome is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy) predominantly affecting distal muscles […]

Cavernous hemangioma also called cavernous angioma or cavernoma (often when refering to presence in the brain[citation needed]) is a type of blood vessel malformation or hemangioma where a collection of […]

A gangliocytic paraganglioma abbreviated GP is a rare tumour that is typically found in the duodenum and consists of three components: (1) ganglion cells (2) epithelioid cells (paraganglioma-like) and (3) […]

A placental site nodule abbreviated PSN is benign remnant from a previous pregnancy.

Leydig cell hypoplasia (or aplasia) (LCH) also known as Leydig cell agenesis is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1000000 biological males. It […]

Harderoporphyria is a rare disorder of heme biosynthesis inherited in an autosomal recessive manner caused by specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditary coproporphyria an […]

An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in […]

Aromatase excess syndrome (AES or AEXS) also sometimes referred to as familial hyperestrogenism or famlilial gynecomastia is a rare genetic and endocrine syndrome which is characterized by an overexpression of […]

Umbilical cord compression is the obstruction of blood flow through the umbilical cord secondary to pressure from an external object or misalignment of the cord itself. Cord compression happens in […]

Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome (also known as PHACES syndrome) is a cutaneous condition characterized by multiple congenital abnormalities.PHACE syndrome should be considered in […]