Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the low...

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the low...

Classical lissencephaly, also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or in association with certain underlying syndromes (e.g., Miller-Dieker syndrom...

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth ...

Chilblains (CHILL-blayns) are the painful inflammation of small blood vessels in your skin that occur in response to repeated exposure to cold but not freezing air. Also known as pernio, chilblains can cause itching, red patches, swelling and blis...

What are congenital heart defects? Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve: The interior walls of the heart The valves ...

Mixed cryoglobulinemia is a rare disorder characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that thicken and clump together at cold temperatures, usually below 98.6 degrees Fahrenheit (the average hum...

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (ine...

Gangrene facts Gangrene refers to dead or dying body tissue(s) that occur because of inadequate blood supply. There are two major types of gangrene, wet gangrene and dry gangrene. Dry gangrene can result from con...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

General DiscussionHypoplastic left heart syndrome is a term used to describe a group of closely related rare heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria,...

Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (P...

Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases d...

Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one ...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may...

Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy ti...

Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy ti...

Pubic lice, also known as crabs, are tiny parasitic insects that infest the hair in the genital area. They are spread through close physical contact, such as sexual activity, and can cause itching and irritation in the affected area. Pubic lice ar...

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth retardation and postnatal growth deficiency along with a handful of common physical characteristics and a range of other symptoms. The wide spectrum of phenotype...

Stretch mark facts The medical name for stretch marks is striae distensae. Stretch marks are very common. Stretch marks rarely are a sign of a significant medical problem. Stretch marks are generally pa...

General DiscussionEndocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of suppor...

Reflex sympathetic dystrophy syndrome (RSDS), also known as complex regional pain syndrome, is a rare disorder of the sympathetic nervous system that is characterized by chronic, severe pain. The sympathetic nervous system is that part of the auto...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

Familial eosinophilic cellulitis is a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin, in a flame-shaped pattern with associated pain. The exact cause of the disease is unknown. However, bites of spiders, be...

Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnorma...