Angel-shaped phalango-epiphyseal dysplasia

Angel-shaped phalango-epiphyseal dysplasia is a rare form of acromelic dysplasia that mainly affects the bones. People with this condition show a unique appearance in their hand bones, where the middle phalanges take on an 'angel-like' shape when viewed on radiological images. This pattern often affects the first metacarpals and the middle phalanges of the second, third, and fifth fingers, which appear shortened. In addition to these hand changes, there may be alterations in the hips (epiphyseal changes), delayed bone age, and in some cases, unusual dental development. These distinct features help guide healthcare providers when they review imaging studies and clinical findings. The information provided here is based on available radiological and clinical descriptions of the condition.

Common signs of this condition include the angel-shaped middle phalanges seen on X-rays, a typical pattern of shortened bones in the hands, and changes in the hip joints. Some individuals may also experience delayed bone age and abnormal dental features.

This condition appears to be related to abnormal bone development. However, the exact causes are not fully understood and no specific genetic mutations have been identified. Information about genetic causes and risk factors is currently limited for this condition.

Information about treatment options for Angel-shaped phalango-epiphyseal dysplasia is currently limited for this condition. Management may focus on monitoring bone development and addressing any symptoms that arise.

Information about prognosis is currently limited for this condition. The outlook may depend on the range and severity of symptoms experienced by people with this condition.

Current research on Angel-shaped phalango-epiphyseal dysplasia is not well detailed in the available information. Future studies may help to better understand the condition and its underlying causes.