Autosomal dominant
Caused by a change in one copy of the UBA2 gene, which is important for the development of the limbs and skeleton. Some changes are inherited from a parent who may be more mildly affected.
Signs and symptoms
Features vary widely, even within a family. Reported features include patches of missing skin on the scalp at birth (aplasia cutis congenita), split-hand or split-foot and other finger or toe differences, distinctive facial features, short stature and hip or spine problems. Some people have developmental delay, and some internal organ abnormalities have been reported.
What a diagnosis changes
Care is tailored to the features present, and genetic counselling and parental testing help clarify recurrence risk because the condition can be inherited from a mildly affected parent.
Genes analysed
Also known as
aplasia cutis congenita with ectrodactyly skeletal syndrome; UBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome
