Question: What is (are) Weissenbacher-Zweymller syndrome ?
Answer: Weissenbacher-Zweymller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED). Infants born with Weissenbacher-Zweymller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). The skeletal features of Weissenbacher-Zweymller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymller syndrome.
Source: GHR

Question: What are the genetic changes related to Weissenbacher-Zweymller syndrome ?
Answer: Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. At least one mutation in the COL11A2 gene is known to cause Weissenbacher-Zweymller syndrome. This mutation disrupts the assembly of type XI collagen molecules, resulting in delayed bone development and the other features of this disorder.
Source: GHR

Question: Is Weissenbacher-Zweymller syndrome inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Source: GHR

Question: What are the treatments for Weissenbacher-Zweymller syndrome ?
Answer: These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR