Both presented with ventricular arrhythmias for which they were evaluated at 28 and 12 years of age, respectively.

Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.

Phacomatosis pigmentovascularis (PPV) is a disorder characterized by the co-existence of vascular and pigmentary birthmarks. Signs and symptoms may include port wine stain , melanocytic nevi (commonly known as moles), epidermal nevi , dermal melanocytosis (areas of blue-gray discoloration), nevus spilus , and patches of hyperpigmentation (areas of darker skin). Other skin features may include nevus anemicus (areas of lighter skin) and café au lait spots . About half of people with PPV have systemic involvement, which means they have features affecting other areas of the body. People with systemic involvement may have neurologic, ocular (eye), or muscular abnormalities.

A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.

Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. Epidemiology The prevalence of NIHF is unknown as it is difficult to obtain when many cases are not diagnosed before intrauterine death or may spontaneously resolve antenatally. Currently, NIHF constitutes up to 90% of all HF cases. Clinical description NIHF presents during the gestational period and manifests as pleural and pericardial effusion, ascites and subcutaneous edema in the fetus. Decreased fetal movements may be noted prior to diagnosis. Often associated are polyhydramnios, fetal tachycardia, and antenatal hemorrhage. Mothers may develop massive anasarca, hypertension, and proteinuria (mirror syndrome).

A number sign (#) is used with this entry because nonimmune hydrops fetalis (NIHF) is a feature of many genetic disorders. Description Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009).

Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism . The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.

Velopharyngeal inadequacy Other names VPI Specialty Oral and maxillofacial surgery Velopharyngeal inadequacy is a malfunction of a velopharyngeal mechanism which is responsible for directing the transmission of sound energy and air pressure in both the oral cavity and the nasal cavity . When this mechanism is impaired in some way, the valve does not fully close, and a condition known as 'velopharyngeal inadequacy' can develop. VPI can either be congenital or acquired later in life. Contents 1 Presentation 1.1 Relationship to cleft palate 2 Causes 3 Diagnosis 3.1 Classification 4 Treatment 5 Inadequacy, insufficiency and incompetency 6 References 7 External links Presentation [ edit ] Relationship to cleft palate [ edit ] A cleft palate is one of the most common causes of VPI. Cleft palate is an anatomical abnormality that occurs in utero and is present at birth. This malformation can affect the lip and palate, or the palate only. A cleft palate can affect the mobility of the velopharyngeal valve, thereby resulting in VPI.

Overview Alcoholic hepatitis is inflammation of the liver caused by drinking alcohol. Alcoholic hepatitis is most likely to occur in people who drink heavily over many years. However, the relationship between drinking and alcoholic hepatitis is complex. Not all heavy drinkers develop alcoholic hepatitis, and the disease can occur in people who drink only moderately. If you're diagnosed with alcoholic hepatitis, you must stop drinking alcohol.

Merkel cell carcinoma (MCC) is a rare, aggressive skin cancer . It usually develops as a single, painless, bump on sun-exposed skin. The bump may be skin-colored or red-violet, and tends to grow rapidly over weeks to months. It may spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Factors associated with developing MCC include increasing age, fair skin, a history of extensive sun exposure, chronic immune suppression, and the Merkel cell polyomavirus. This virus has been detected in about 80% of people with MCC. Treatment may include surgery, radiation therapy, and/or chemotherapy.

Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). Epidemiology MCC is rare accounting for less than 1% of all cutaneous malignancies. The estimated annual incidence ranges from 1 to 2 per 500,000 in the white population, but figures are steadily increasing. There is no major sex predilection, although some authors report a slight male predominance. Clinical description MCC generally occurs in older white adults (mean age at diagnosis 68-75 years), only 5% of cases occur before the age of 50 years.

Overview Merkel cell carcinoma is a rare type of skin cancer that usually appears as a flesh-colored or bluish-red nodule, often on your face, head or neck. Merkel cell carcinoma is also called neuroendocrine carcinoma of the skin. Merkel cell carcinoma most often develops in older people. Long-term sun exposure or a weak immune system may increase your risk of developing Merkel cell carcinoma. Merkel cell carcinoma tends to grow fast and to spread quickly to other parts of your body. Treatment options for Merkel cell carcinoma often depend on whether the cancer has spread beyond the skin.

Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Epidemiology The prevalence of multiple endocrine neoplasia type 4 is unknown, but the syndrome is very rare. To date, 12 index cases have been reported. Prevalence is thought to be less than 1/million. Clinical description MEN4 is a recently described MEN-like syndrome similar to MEN1 (see this term). Age of onset of tumors is variable. Patients have been reported to develop parathyroid tumors from fourth decade of life and pituitary tumors from the third decade.

Birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button. Gastroschisis Gastrochisis in ultrasound: defect is right to midline Pronunciation gas-troh-skee-sis [1] Specialty General surgery , medical genetics Symptoms Intestines extend outside of the body through a hole next to the belly button [2] Complications Feeding problems, prematurity , intrauterine growth restriction [1] [3] Usual onset During early development [1] Causes Unknown [1] Risk factors Mother who smokes, drinks alcohol, or is younger than 20 [3] [1] Diagnostic method Ultrasound during pregnancy, based on symptom at birth [1] Differential diagnosis Omphalocele , prune belly syndrome [3] [4] Treatment Early surgery [1] Frequency 4 per 10,000 births [3] Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button . [2] The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. [1] Complications may include feeding problems, prematurity , intestinal atresia , and intrauterine growth restriction . [1] [3] The cause is typically unknown. [3] [1] Rates are higher in babies born to mothers who smoke, drink alcohol, or are younger than 20 years old. [3] [1] Ultrasounds during pregnancy may make the diagnosis. [1] Otherwise diagnosis occurs at birth. [1] It differs from omphalocele in that there is no covering membrane over the intestines. [3] Treatment involves surgery. [1] This typically occurs shortly after birth. [1] In those with large defects the exposed organs may be covered with a special material and slowly moved back into the abdomen. [1] The condition affects about 4 per 10,000 newborns. [3] Rates of the condition appear to be increasing. [1] Contents 1 Signs and symptoms 2 Causes 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Prognosis 7 Epidemiology 8 See also 9 References 10 External links Signs and symptoms [ edit ] There are no signs during pregnancy. About sixty percent of infants with gastroschisis are born prematurely. [5] At birth, the baby will have a relatively small (<4 cm) hole in the abdominal wall, usually just to the right of the belly button. [6] Some of the intestines are usually outside the body, passing through this opening. In rare circumstances, the liver and stomach may also come through the abdominal wall. [7] After birth these organs are directly exposed to air. [5] Causes [ edit ] The cause of gastroschisis is not known. There may be genetic causes in some cases, and there may be environmental factors to which the mother is exposed during pregnancy. [8] Risk factors include the mother being young, and use of alcohol or tobacco. [8] Pathophysiology [ edit ] During the fourth week of human embryonic development , the lateral body wall folds of the embryo meet at the midline and fuse together to form the anterior body wall. [9] However, in gastroschisis and other anterior body wall defects, this fails to occur by either one or both of the lateral body wall folds not moving properly to meet with the other and fusing together. [10] This incomplete fusion results in a defect that allows abdominal organs to protrude through the abdominal wall, and the intestines typically herniate through the rectus abdominis muscle, lying to the right of the umbilicus .