Stüve-Wiedemann syndrome 1

Stüve-Wiedemann syndrome 1 is a rare, inherited condition that primarily affects the bones. It is known as a congenital skeletal dysplasia, meaning that people with this condition are born with differences in how their bones form and grow. People with this condition often have a small stature and experience bone bowing, especially in the long bones. The condition is also associated with other physical difficulties, including limited finger movement (camptodactyly), episodes of high body temperature (hyperthermic episodes), breathing challenges such as respiratory distress and apnea, as well as feeding difficulties that can lead to early mortality.

Common signs of Stüve-Wiedemann syndrome 1 include small stature, bowing of the long bones, and camptodactyly (stiff fingers). People with this condition may also experience episodes of high body temperature, respiratory distress or apneic episodes, and difficulties with feeding.

Stüve-Wiedemann syndrome 1 is caused by genetic changes and is inherited in an autosomal recessive manner. This means that a child must receive a copy of the faulty gene from both parents to develop the condition. The known gene involved in this condition is LIFR.

Information about treatment options is currently limited for this condition.

The outlook for people with Stüve-Wiedemann syndrome 1 is challenging, as the condition often leads to early mortality. People with this condition face significant health challenges throughout their lives, making supportive and comprehensive care important.

Information about current research and future directions is currently limited for this condition.