Advanced searches left 3/3

ACRONYM - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 May 2022

* If you want to update the article please login/register

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

T cells, which are limited in number or do not function properly in XMEN, are particularly poor in number or do not function properly. Since males with XMEN do not have enough functional T cells, they have common infections such as ear infections, sinus infections, and pneumonia. EBV is a common virus that kills more than 99% of the general population and in most cases goes unnoticed. EBV stays in the body for the remainder of a person's life after initial infection. The T cells cannot recognize the virus in males with XMEN, however, and EBV infection can cause immune system cell cancers. The EBV infection itself rarely causes no other signs in males with XMEN, and affected individuals may not have noticed lymphoma before they develop lymphoma.

Source link: https://medlineplus.gov/genetics/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia


Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Congenital hematysplasia with ichthyosiform erythroderma and leg abnormalities, more commonly known by the term CHILD syndrome, is a disorder that affects the growth of multiple organ organs and legs. People with CHILD syndrome have a skin disease that is red and inflamed, with flaky scales covering the skin. CHILD syndrome also disrupts the formation of the arms and legs early in childhood. Children with this condition may be born with one or two limbs that are short or missing. The leg abnormalities are present on the same side of the body as the skin abnormalities.

Source link: https://medlineplus.gov/genetics/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects


Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay

SHORT syndrome is a developmental disorder that causes birth and growth in childhood. The majority of people with SHORT syndrome have distinct facial features. Increased pressure in the eye and vision loss can be attributed to the Rieger anomaly. Dental abnormalities in early childhood, small teeth, fewer teeth than average, and a lack of protective covering over the teeth surface are all typical signs of SHORT syndrome. SHORT syndrome patients have immune system abnormalities, a kidney disease associated with nephrocalcinosis, hearing loss, loosening joints, and a soft out-pouching in the lower abdomen described as an inguinal hernia are among the reported signs and symptoms. The majority of people with SHORT syndrome have normal intelligence, although a few have been diagnosed with mild cognitive impairment or delayed speech development in childhood.

Source link: https://medlineplus.gov/genetics/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay


Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

Metaphyseal dysplasia and epiphyseal dysplasia are two of the most common bone changes; these are malformations of long bones in the arms and legs. The most noticeable characteristic of IMAGe syndrome is Adrenal hypoplasia congenita. Both of the adrenal glands on top of each kidney are a pair of tiny glands. Only in affected males are there genital abnormalities connected with IMAGe syndrome. Several new signs and symptoms have been reported in people with IMAGe syndrome. a small chin, A premature fusion of such bones of the skull, a gap in the soft flap of tissue hanging from the roof of the mouth, a high-arched roof of the mouth, and a small chin - all people with this condition are less commonly. Other potential signs of IMAGe syndrome include elevated calcium in the blood or urine, as well as a shortage of growth hormone in childhood, which leads to short stature.

Source link: https://medlineplus.gov/genetics/condition/intrauterine-growth-restriction-metaphyseal-dysplasia-adrenal-hypoplasia-congenita-and-genital-anomalies


RAPADILINO syndrome

Many infants with RAPADILINO syndrome have a difficult feeding and diarrhea, vomiting, and vomiting are common. The skin patches on some people with RAPADILINO syndrome have harmless light brown patches of skin that look similar to a skin finding identified as café-au-lait spots. In addition, people with RAPADILINO syndrome are also at risk of developing osteosarcoma, a blood-related cancer called lymphoma. In people with RAPADILINO syndrome, osteosarcoma most commonly occurs during childhood or adolescence, and lymphoma is typical in young adulthood. RAPADILINO syndrome's various signs and symptoms overlap with those of other disorders, such as Baller-Gerold syndrome and Rothmund-Thomson syndrome. Researchers are looking into whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are related disorders or as part of a group disease with overlapping signs and symptoms.

Source link: https://medlineplus.gov/genetics/condition/rapadilino-syndrome


SATB2-associated syndrome

SATB2 -associated syndrome is a condition that affects multiple organ systems. Individuals with SATB2 -associated syndrome have mild to moderate intellectual impairment, and their ability to speak is delayed or absent. People with SATB2 -associated syndrome have a happy or overfriendly personality. Infancy, feeding difficulties and poor muscle tone are two of the most common medical disorders. About half of those affected individuals have abnormalities in the brain's architecture. A high arch or an opening in the roof of the mouth, a small lower jaw, or dental anomalies are typical in people with SATB2-associated syndrome. Those people with SATB2-associated syndrome have other unusual facial features, such as a prominent forehead, low-set ears, or a wide region between the nose and throat.

Source link: https://medlineplus.gov/genetics/condition/satb2-associated-syndrome


L1 syndrome

L1 syndrome is a group of disorders that mostly impact the nervous system and occur almost exclusively in males. stenosis of the aqueduct of Sylvius in people with HSAS results in hydrocephalus by restricting the flow of cerebrospinal fluid out of fluid-filled cavities called ventricles. Individuals with HSAS have a significant cognitive impairment and may have seizures. Individuals with MASA syndrome may have slight enlargement of the ventricles. Spastic plegia type 1 is distinguished by progressive muscle rigidity and leg paralysis. Affected people also have mild to moderate intellectual impairment. People with spastic paraplegia type 1 do not usually have significant abnormalities in brain structures, according to brain structures. Underdevelopment or absence of the tissue that connects the left and right halves of the brain, a X-linked intricate corpus callosum agenesis is defined. People with this disorder can have spastic paraplegia and mild to moderate intellectual impairment. People with L1 syndrome have varying life expectancies, depending on the severity of the signs and symptoms. They were once thought to be distinct disorders, but now that they were discovered to have a genetic cause, they are now considered part of the same disease. Family members with L1 syndrome triggered by the same gene mutation may have different forms of the disorder.

Source link: https://medlineplus.gov/genetics/condition/l1-syndrome


Osteopetrosis

Osteoroseis is a bone disease that causes bones to be abnormally dense and prone to fracture. Multiple bone fractures, abnormal side-to-side curvature of the spine or other spinal abnormalities, arthritis in the hips, and osteomyelitis are all common signs and symptoms in affected individuals. Autosomal recessive osteomyosis is the most common form of the disorder that appears in early childhood. Individuals with a high risk of bone fractures as a result of seemingly minor bumps and falls. Dense bones can also influence bone marrow's function, blocking it from growing new blood cells and immune system cells. People with severe osteoporosis, a red blood cell shortage, and recurrent infections are all in danger. These bone marrow abnormalities can be life-threatening in infants or early childhood in the most severe instances. People with severe osteopoei can also experience brain abnormalities, intellectual impairment, or recurrent seizures. Intermediate autosomal osteoporosis is a disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. People with this disorder have no life-threatening bone marrow abnormalities. However, some of the affected individuals have abnormal calcium deposits in the brain, intellectual impairment, and a form of kidney disease called renal tubular acidosis. Osterosis can have a X-linked pattern of inheritance.

Source link: https://medlineplus.gov/genetics/condition/osteopetrosis

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions