What causes Adams-Oliver Syndrome?

When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive pattern . In conditions with this pattern of inheritance, both copies of the gene in each cell have mutations.

What is aplasia cutis congenita?

Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane.

What is Johanson Blizzard syndrome?

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood.

What is Galloway Mowat syndrome?

Galloway-Mowat syndrome is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities, particularly neurological abnormalities and early onset progressive kidney disease.

Can aplasia cutis be treated?

Treatment of aplasia cutis congenita varies depending on the condition of the infant. Conservative treatment is preferred. Small areas usually heal on their own over time. Gentle cleansing and application of bland ointments or silver sulfadiazine can help prevent infection.

What causes aplasia?

The most common cause of aplastic anemia is from your immune system attacking the stem cells in your bone marrow. Other factors that can injure bone marrow and affect blood cell production include: Radiation and chemotherapy treatments.

What is Watson’s disease?

Watson syndrome is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.

What is Weaver syndrome?

Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly ), a variable degree of intellectual disability (usually mild), and characteristic facial features.

What are the symptoms of nail patella syndrome?

Symptoms of nail patella syndrome

• Nails. Nails may be missing, underdeveloped, discoloured, split, ridged or pitted.
• Kneecaps. The kneecaps may be missing, small, irregularly shaped and easily dislocated, and can click, lock or may feel unstable or painful.
• Arms and elbows.
• Pelvis.
• Kidneys.
• Other symptoms.

What causes Fraser syndrome?

Fraser syndrome is caused by changes (mutations) in the FRAS1, FREM1, FREM2 or GRIP1 genes). More specifically, Fraser syndrome 1 (FRASRS1) is caused by mutations in the Fraser extracellular matrix complex subunit 1 (FRAS1) gene.

What does cutis aplasia look like?

Aplasia cutis may partially heal before delivery and appear as a hairless, atrophic, membranous, parchmentlike or fibrotic scar. Membranous aplasia cutis is a flat, white membrane overlying a defect in the skull.

How is aplasia diagnosed?

Diagnosis. Severe aplastic anemia is a serious disorder requiring prompt medical attention. To diagnose aplastic anemia, physicians must examine the cells of the bone marrow and blood under a microscope. To do this, they will likely perform blood and laboratory tests as well as a bone marrow aspiration and biopsy.

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How is AOS treated in the United States?

Management of AOS is largely symptomatic and aimed at treating the various congenital anomalies present in the individual. When the scalp and/or cranial bone defects are severe, early surgical intervention with grafting is indicated.

What does AOS stand for in medical terms?

(December 2015) ( Learn how and when to remove this template message) Adams–Oliver syndrome ( AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin .

How are orchids part of the AOS community?

Whether you grow on your windowsill, or under lights in your basement, or outdoors, or in a greenhouse, you are a part of the wonderful orchid community, and, by being a member of the AOS, you have a home and are part of a close-knit orchid community. The orchids are amazing and so are orchid people.

What kind of mutations are associated with AOS?

In rare cases, AOS can be associated with chromosomal translocations. A panel of candidate genes (including ALX4, ALX1, MSX1, MSX2, P63, RUNX2 and HOXD13) were tested but no disease-causing mutations were identified.