Also known as early onset Lysosomal Acid Lipase (LAL) Deficiency, Wolman disease is an inherited metabolic disease that results in the buildup of fats in the tissues and organs leading to liver problems and growth failure in babies that is usually fatal by one year of age.
Woodhouse-Sakati syndrome is a rare autosomal recessive genetic disorder which causes malformations and deficiencies affecting the endocrine system A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation.
A condition that is characterised by immune deficiency in the newborn ultimately resulting in death.
A condition which is characterised by severe intrauterine growth retardation with an increase in the sensitivity to mitomycin C sensitivity.
A rare condition characterized by tightly curled hair that occurs from birth in non-black people.
A condition that is characterised by hypotrichosis, everted lip and outstanding ears.
WDS is named after Dr. Worster-Drought who first described it in 1956.It is a form of cerebral palsy in which the main effect on movement, is on the control of muscles which normally move the lips, jaw, tongue, palate, back of the throat (pharynx) and upper gullet (oesophagus or food pipe). Any number of these areas can be affected to variable degrees, and the children may have problems with eating, drinking, swallowing, dribbling and/or speech. Like many forms of cerebral palsy, the condition is complex and can be associated with difficulties in many areas (e.g. learning, behaviour, epilepsy). This means that the children can appear very different from each other, and often their main difficulties can be in the associated areas, rather than predominantly focused on the oral problems. Thus children with WDS can come to the attention of a variety of different specialists, (speech therapist, teacher, educational psychologist, G.P., paediatrician… ). As the condition is not well known, it can take some time before the whole picture is recognised and WDS diagnosed, enabling the child to receive the multifaceted support they need.
A rare genetic disorder characterized by benign bony areas on the palate and thickening of various long bones.
A condition characterised by a sensory neuropathy associated with deafness and dementia.
A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
A rare genetic disorder characterized by blood and limb abnormalities.
A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
X chromosome, duplication Xq13 1 q21 1: A condition characterised by the duplication of the long arm of chromosome X.
X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual.
X chromosome, monosomy Xq28 (medical condition): A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual.
X chromosome, trisomy 26-28: A condition characterised by the duplication of the long arm of chromosome X.
X chromosome, trisomy Xp3: A condition characterised by the duplication of the long arm of chromosome X.
X chromosome, trisomy Xpter Xq13: A condition characterised by the duplication of the long arm of chromosome X.
X chromosome, trisomy Xq: A condition characterised by the duplication of the long arm of chromosome X
X chromosome, trisomy Xq25: A condition characterised by the duplication of the long arm of chromosome X.
X fragile site folic acid type: A fragile X syndrome that is characterised by mental retardation and developmental delay.
X-linked congenital adrenal hypoplasia (medical condition): A genetic disorder which affects the body tissues that produce hormones . It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
X-linked adrenoleukodystrophy (also known as Adrenoleukodystrophy, ALD, X-ALD, adrenomyeloneuropathy, AMN, Siemerling–Creutzfeldt disease or bronze Schilder disease) is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogenous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in terms of onset and clinical severity, ranging from adrenal insufficiency to progressive paraparesis in early adulthood (this form of the disease is typically known as adrenomyeloneuropathy).
X-linked agammaglobulinema is a genetic condition that affects the immune system and occurs almost exclusively in males. Affected individuals have very few B cells in the body, which produce antibodies called immunoglobulins that help protect the body against infection. Those with this condition are more susceptible to infections because their body makes very few of these antibodies.This condition is inherited in an X-linked recessive pattern and is caused by mutations in the BTK gene.
It occurs in a frequency of about 1 in 100,000 male newborns, and has no ethnic predisposition. XLA is treated by infusion of human antibody. Treatment with pooled gamma globulin cannot restore a functional population of B cells, but it is sufficient to reduce the severity and number of infections due to the passive immunity granted by the exogenous antibodies.
Obtained from foods such as milk, eggs, fish and meat, B 12 is essential to human health because it helps the body convert food into fuel. It's vital to the nervous system and for making red blood cells.
Derivatives of vitamin B12 (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine in blood and urine.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder. Children born with XLHED have a reduced ability to sweat (hypohidrosis), abnormally shaped and missing teeth (hypodontia), and fine sparse hair (hypotrichosis). There are a number of additional features of XLHED, which may include dry eyes, eczema, asthma, and dry mucous membranes in the mouth and nose.
In the first years of life, children with XLHED are at risk for severe medical complications. These complications are most often associated with their inability to sweat, which can lead to their bodies overheating. Children with XLHED also have reduced mucous secretion and may be more prone to respiratory infections. Throughout childhood the focus of care may shift to chronic skin issues, medical management, and self-esteem challenges of severe hypodontia—missing and pointed teeth. Dentures may be prescribed as early as age 2-3 years to enhance feeding and growth and to begin to address what are often life-long psychosocial issues.
Incidence
The worldwide incidence of XLHED is estimated to be between 4 to 10/100,000 male births (as many as 200 births annually). Additionally, about 50% of XLHED-carrier females (approximately 400 births annually) are estimated to have symptoms that would warrant therapeutic intervention.
X-linked ichthyosis: A rare genetic skin disorder occurring in males only and resulting from an inborn error of metabolism (deficiency of the enzyme steroid sulfatase).
X-linked juvenile retinoschisis (XLRS) is a genetic ocular disease characterized by reduced visual acuity in males due to juvenile macular degeneration.
X-linked lymphoproliferative syndrome (XLP) is an inherited disorder of the immune system that affects males. XLP is characterized by an abnormal immune response to infection with the Epstein-Barr virus (EBV). This is a common virus in the normal population, which causes infectious mononucleosis (“mono or kissing disease”). In normal individuals, EBV causes no long lasting ill effects. In individuals with X-linked lymphoproliferative syndrome, there is a mutation (mistake) in the XLP gene, SH2D1A/DSHP/SAP. This gene helps control the immune response to an EBV infection. As a result, males with XLP who are exposed to the EBV virus can have life-threatening symptoms. Patients with the disorder, in the absence of an acute EBV infection, are also subject to immune system problems, including recurrent infections and an unusual susceptibility to B-cell lymphomas. The diagnosis is confirmed by mutation detection (laboratory tests looking for a mistake in the XLP gene).
Mental retardation, X-linked - macrocephaly - macro-orchidism: A rare disorder characterized by mental retardation, enlarged testes and a large head. Not all patients will exhibit all of these symptoms.