Summary Distal arthrogryposis type 9 (DA9 – also known as congenital contractural arachnodactyly or Beals / Beals-Hecht syndrome) is caused by heterozygous mutation in the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. The transmission is autosomal dominant. Due to its genetic etiology, it show some clinical overlap with Marfan syndrome, which is caused
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 Distal arthrogryposis type 7 (DA7), often referred to as trismus-pseudocamptodactyly syndrome or Hecht syndrome, is caused by mutation in the MYH8 gene. Heredity is autosomal dominant. Large multigenerational families with several affected members have been reported. Detailed clinical description Expressivity is highly variable, although penetrance tends to be complete. Inability to open the mouth
Summary Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. Detailed clinical description Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. The syndrome has been originally described as a arthrogryposis-like hand anomaly with sensorineural deafness. Both features of the syndrome can vary widely in
Summary Distal arthrogryposis type 5 (DA5, also known as oculomelic amyoplasia) is caused by heterozygous mutation in the PIEZO2 gene, of which mutations also cause the overlapping syndromes DA3 and Marden-Walker syndrome. Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia*, and/or strabismus, in
Summary Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis. The transmission is autosomal dominant and the condition has been observed across multiple generations in families. Mental retardation and syndactyly can be seen in some cases. Detailed clinical description In DA4 the scoliosis can be mild to severe, with the possibility of fusion
Summary DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate. The syndrome is caused by mutationsin the PIEZO2 gene, which also causes DA5 (oculomelic amyoplasia) and Marden-Walker syndrome (MWKS). DA5 and MWKS are very similar to DA3 and are distinguished by ocular abnormalities and mental retardation, respectively (it
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
Clinical summary Arthrogryposis multiplex congenita, distal, type 1 (DA1) is the prototypic form of distal arthrogryposis and as such is largely characterized by camptodactyly (permanently bent fingers and toes) and clubfoot (inward- and upward-turning foot). Recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction, although distal arthrogryposis was originally defined as being
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