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Bent bone dysplasia syndrome 1
- ... spectrum disorders, which also includes otopalatodigital syndrome type 1, ... in tiny bones in the ears (ossicles), problems in the development ...
- ... limbs. Abnormalities of muscles, including hypotonia and permanently bent joints ... syndrome appears to be at least 1 in 5,000 individuals worldwide. The hypermobile and ...
- ... disability syndrome Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome 1 Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome 2 ...
- ... National Organization for Rare Disorders (NORD) STUVE-WIEDEMANN SYNDROME 1; STWS1 PubMed Dagoneau N, Scheffer D, Huber C, ...
- ... or hearing problems. The frequency of caudal regression syndrome is unknown. It is estimated to occur in 1 to 2.5 in 100,000 newborns. This ... parent has diabetes while pregnant, affecting an estimated 1 in 350 newborns in this group. ... Caudal regression syndrome is a complex condition that may have different ...
- ... term "campomelic" comes from the Greek words for "bent limb." Affected individuals ... usually have short legs, dislocated hips, underdeveloped shoulder ...