Acrofacial dysostosis, Kennedy-Teebi type

Acrofacial dysostosis, Kennedy-Teebi type is a very rare genetic condition that affects the development of bones in the face and the hands and feet. 'Acrofacial' means it involves both the face (facial) and the limbs (acro = extremities), and 'dysostosis' means the bones did not form in the typical way. This condition was first described by the researchers Kennedy and Teebi, whose names it carries. People with this condition are typically born with distinctive facial features, including underdevelopment of the cheekbones and the lower jaw, as well as abnormalities of the outer ears. The hands and feet may also show differences, such as small or missing fingers or toes, or fingers that are fused together. These features are present from birth. Because this condition is extremely rare, treatment is focused on managing individual symptoms rather than curing the underlying cause. A team of specialists — including craniofacial surgeons, ear specialists, and hand surgeons — typically work together to help improve function and appearance. Early intervention and supportive therapies can make a meaningful difference in quality of life.

Bring these to your next appointment

• Q1.What genetic tests should we do to confirm the diagnosis and find the specific gene change?,Does my child need any urgent treatment for breathing or feeding right now?,What specialists should be part of my child's care team, and how often should we see each one?,When and what type of surgeries might be recommended as my child grows?,How can we best support my child's hearing and speech development?,What are the chances that other family members or future children could be affected?,Are there any patient registries or research studies we could participate in to help advance understanding of this condition?

Common questions about Acrofacial dysostosis, Kennedy-Teebi type