Summary Distal arthrogryposis type 8 (DA8 – also known as multiple pterygium syndrome) is caused by heterozygous mutation in the MYH3 gene. The transmissions is autosomal dominant. Mutations in the same gene can also cause DA2A and DA2B. Detailed clinical features Wide variability in severity can be observed among affected subjects. Ptosis and severe scoliosis
Summary DA2B is thought to be the most common of the distal arthrogryposis disorders. Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. If distal arthrogryposis type 1 (DA1) is not associated with other abnormalities, other forms of DA such
Summary Arthrogryposis, distal, type 2A (DA2A) is also known as Freeman-Sheldon syndrome (FSS) or whistling face syndrome and is caused by heterozygous mutation in the MYH3 gene. Mutations in this gene can also cause distal arthrogryposis type 2B (also known as Sheldon-Hall syndrome, a genetically heterogeneous subtype of distal arthrogryposis caused also by mutations in the
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