Abdominal musculature absent with microphthalmia and joint laxity

dominal musculature absent with microphthalmia and joint laxity is a rare human disorder characterized mainly by ligamentous laxity small eyes, a lack of abdominal muscles and facial anomalies

is for Babesiosis

"Texas fever" redirects here. For other uses, see Texas fever (disambiguation).

Babesiosis SpecialtyInfectious disease

Babesiosis is a malaria-like parasitic disease caused by infection with Babesia, a type of Apicomplexa.[1] Human babesiosis transmission via tick bite is most common in the Northeastern and Midwestern United States and parts of Europe, and sporadic throughout the rest of the world. It occurs in warm weather.[2] People can get infected with Babesia parasites by the bite of an infected tick, by getting a blood transfusion from an infected donor of blood products, or by congenital transmission (an infected mother to her baby).[3] Ticks transmit the human strain of babesiosis, so it often presents with other tick-borne illnesses such as Lyme disease.[4] After trypanosomes, Babesia is thought to be the second-most common blood parasite of mammals, and they can have a major impact on health of domestic animals in areas without severe winters. In cattle the disease is known as Texas cattle fever, redwater, or piroplasmosi

is for Calcinosis cutis

Calcinosis cutis is a type of calcinosis wherein calcium deposits form in the skin. A variety of factors can result in this condition. The most common source is dystrophic calcification, which occurs in soft tissue as a response to injury. In addition, calcinosis is seen in Limited Cutaneous Systemic Sclerosis, also known as CREST syndrome (the "C" in CREST). In dogs, calcinosis cutis is found in young, large breed dogs and is thought to occur after a traumatic injury.

is for Daentl Townsend Siegel syndrome

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Daentl Townsend Siegel syndromeOther namesHydrocephalus-blue sclerae-nephropathy syndromeOne of the symptoms, hydrocephalus, seen on a CT scan of the brain.Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978.[1] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrom

is for Ectodermal dysplasia

Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive.

Worldwide, around 7,000 people have been diagnosed with an ectodermal dysplasia condition. Some ED conditions are only present in single family units and derive from very recent mutations. Ectodermal dysplasias can occur in any race but are much more prevalent in Caucasians than any other group and especially in fair Caucasians.

Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.

is for Facial nerve paralysis

Facial nerve paralysis is a common problem that involves the paralysis of any structures innervated by the facial nerve. The pathway of the facial nerve is long and relatively convoluted, so there are a number of causes that may result in facial nerve paralysis.[2] The most common is Bell's palsy, a disease of unknown cause that may only be diagnosed by exclusion of identifiable serious causes.

is for Galactose-1-phosphate uridylyltransferase deficiency

Galactose-1-phosphate uridylyltransferase deficiencyOther namesGalactosemia type 1, Classic galactosemia or GALT deficiencyGalactoseSpecialtyEndocrinology Galactose-1-phosphate uridylyltransferase deficiency (classic galactosemia), is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase.[1] It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas. On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency. Further analysis of metabolites and enzyme activities are needed to identify the specific metabolic error.

is for Hailey–Hailey disease

Hailey-Hailey diseaseOther namesFamilial benign chrnic pemphigusSpecialtyMedical genetics Hailey–Hailey disease, or familial benign chronic pemphigus[1]^:559 or familial benign pemphigus,[2]^:622 was originally described by the Hailey brothers (Hugh Edward and William Howard) in 1939.[3][4] It is a genetic disorder that causes blisters to form on the skin.

is for Ruzicka Goerz Anton syndrome

Ruzicka Goerz Anton syndromePatient with IchthyosisRuzicka Goerz Anton syndrome is a rare genetic disease described by Ruzicka et al. in 1981. It is characterized by icthyosis (rough, scaly skin), deafness, intellectual disability, and skeletal anomalies.[1][2]

It is also known as "Ichthyosis deafness intellectual disability skeletal anomalies

is for Jacobsen syndrome

Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder.[1] The deletion may range from 5 million to 16x NN million deleted DNA base pairs.[2] The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be.

People with Jacobsen syndrome have serious intellectual disabilities, dysmorphic features, delayed development and a variety of physical problems including heart defects. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome.

is for Kabuki syndrome

Kabuki syndrome (also previously known as kabuki makeup syndrome, KMS, or Niikawa-Kuroki Syndrome) is a pediatric congenital disorder of genetic origin.[1][2] It affects multiple parts of the body with varying symptoms and severity, although the most common is the characteristic facial appearance.[3] It is quite rare, affecting roughly one in 32,000 births.[4] It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki.[5] It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form.

is for Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, is a rare autosomal recessive fatty acid oxidation disorder[1] that prevents the body from converting certain fats into energy. This can become life-threatening, particularly during periods of fasting

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