Edinburgh malformation syndrome

Edinburgh malformation syndrome is a rare genetic condition that affects multiple parts of the body. People with this condition are born with several congenital anomalies. They show a distinct, consistently abnormal facial appearance and may also have an unusual mouth shape. The syndrome is also marked by true or apparent hydrocephalus, which is a build-up of fluid in the brain. In addition to these features, affected individuals often experience motor and cognitive developmental delays along with difficulties in feeding, vomiting, and chest infections that contribute to failure to thrive. Unfortunately, the condition is lethal, with many affected individuals not surviving beyond a few months after birth. Some cases have also noted a hairy forehead, neonatal hyperbilirubinemia, and advanced bone age. The literature on this syndrome has not expanded since 1991.

The common signs seen in Edinburgh malformation syndrome include an abnormal facial appearance, hydrocephalus (or an appearance of it), and delays in both motor and cognitive development. Feeding difficulties, vomiting, and chest infections are also commonly noted, which contribute to failure to thrive. Other reported features include a carp mouth, hairiness on the forehead, neonatal hyperbilirubinemia, and advanced bone age.

Edinburgh malformation syndrome is described as a genetic condition; however, specific genetic causes or risk factors, including known gene associations, have not been clearly identified. Information about the exact causes remains limited.

Information about treatment is currently limited for this condition.

The outlook for people with Edinburgh malformation syndrome is very poor. The condition is considered lethal, with most affected individuals not surviving beyond a few months after birth. This highlights the severe nature of the syndrome and its impact on overall quality of life.

Information about current research is currently limited for this condition. The syndrome has not been described further in the literature since 1991, which means that updated studies or new findings are not available at this time.