acromelic frontonasal dysostosis

Acromelic frontonasal dysostosis is a rare form of frontonasal dysplasia. This condition is marked by a combination of distinct craniofacial, brain, and limb malformations. Among the facial features, there can be a large soft spot (fontanelle), wide-set eyes, a split nasal tip, nasal clefting, a short head (brachycephaly), and a midline facial cleft. Brain findings may include an interhemispheric lipoma and underdevelopment or absence of the corpus callosum. In the limbs, individuals may exhibit underdeveloped or absent tibia, club foot, extra toes or fingers on the feet with thickened nails, and a unique combination of malformations. Intellectual disability is also reported. This combination of features defines the syndrome and differentiates it from other related conditions.

People with this condition can have a range of symptoms. Common features include craniofacial abnormalities such as a large fontanelle, wide-set eyes, split nasal tip, nasal clefting, and a median cleft face. They may also have brain abnormalities like an interhemispheric lipoma and absence of the corpus callosum, which connects the two sides of the brain. In addition, limb abnormalities such as underdeveloped or missing tibia, club foot, and extra digits on the feet, along with thickened nails, are seen. Intellectual disability is another common symptom.

The exact cause of acromelic frontonasal dysostosis is linked to changes in a gene known as ZSWIM6. Genetic factors play a role in the development of the distinctive features of this condition. However, additional details about genetic mechanisms or risk factors have not been fully detailed in the source information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition. Further studies may help to better understand the genetic causes and full range of clinical features.