What is Adams-Oliver Syndrome ?
It is defined as a disorder in which there is a defect of the scalp, cranium, limbs and skin. It leads to the mottling of skin. It is a rare and congenital disorder. It is also referred as AOS.
What are the characteristics / signs and symptoms of Adams-Oliver syndrome ?
It includes the unique features like missing of hair and skin. It involves the posterior part of skull which may involve other defects of cranial bone. Lesion size varies and is not constant and can vary from few hairless patches to full exposure of the skull. One can also see the different terminal transverse defects like the shortened digits. It involves the upper and lower extremities. The individuals with this disorder have a mild growth deficiency and the heights have lower normal percentiles. There is a mottling of skin which is referred as the cutis marmorata. The other characters are cardiac abnormalities, cleft lip with cleft palate, abnormalities in the blood vessels which include the hypo plastic aortic arch, pulmonary arteries and middle cerebral artery. One can also observe the abnormal renal system and mental retardation. There are other vascular abnormalities which include the portal vein, portal sclerosis and arterio venous malformations. There are abnormal umbilical veins and dilated renal veins.
What is the genetics of Adams-Oliver syndrome ?
It includes the autosomal dominant inheritance pattern. It occurs due to the study of families which have multiple affected members present in more than one generation. The severity varies between the different members and suggests variable expressivity. It has decreased peneterance of the disease causing allele. It was also known that this disorder also has an autosomal recessive inheritance pattern. It is a severe phenotype.
What is the diagnosis of Adams-Oliver syndrome ?
It includes the clinical diagnosis which is based upon the specific features. They were divided into the major and minor features. The major features include the family history of this disorder, terminal transverse limb defect and aplasia cutis congenital. The minor features include the cutis marmorata, congenital heart disease and vascular anomaly. The combination of two major features is sufficient for the diagnosis of this disorder. The combination of one major and one minor feature is sufficient for this disorder to happen. There is no genetic testing that can confirm or rule out this condition.
What is the epidemiology of Adams-Oliver syndrome ?
It includes the rare genetic disorder. It has unknown annual incidence and an overall prevalence. There are 100 individuals which have been reported in the medical literature with this disorder.
What is the prognosis of Adams-Oliver syndrome ?
It includes the excellent prognosis in most of the cases. The individuals with more severe cases of scalp and cranium undergo serious complications. It includes the hemorrhage and meningitis which can lead to the long term disability.
What is the mechanism of Adams-Oliver syndrome ?
It includes the congenital abnormalities which are observed in this disorder is not known. There were terminal transverse limb anomalies and cardio vascular malformations. They were seen in the models of hypoxic insults which happen during the first trimester. It is combined with the cardiac and vascular abnormalities. It has been hypothesized that the defects seen in this disorder are due to the vasculo genesis. The disease causing genetic defect in this disorder has not been identified. In rare cases this disorder is also associated with the chromosomal trans locations. There were panel of candidate genes which have been tested but no disease causing mutations have been known.
What are the research directions of Adams-Oliver syndrome ?
It includes the diagnosis by blood tests and medical imaging. It is also known as the chronic adrenal insufficiency, hypo cortisolism and hypo corticism. It is a rare endocrine disorder where the adrenal glands produce insufficient amount of steroid hormones. It also involves the gluco corticoids and mineralo corticoids. It is treated by involving the replacement of absent hormones. It includes the fludro cortisone and hydro cortisone. It includes a regular follow up treatment and monitoring the other health problems.
What is the treatment of Adams-Oliver syndrome ?
It includes the management of symptomatic conditions and is aimed to treat the multiple congenital anomalies present in the individual. When the scalp or cranial bone defects are present and are severe in the nature it requires a surgical intervention with a grafting.
This has been written with the help of wikipedia as a source