Adducted Thumbs Syndrome
| Disorder | |
|---|---|
| OMIM #: | %201550 (Click to access OMIM database) |
| Disorder: | Adducted Thumbs Syndrome |
| Also known as: | THUMBS, CONGENITAL CLASPED |
| Clinical | |
| Phenotype: | cleft palate, high-arched palate, contractures, craniosynostosis, microcephaly, thumbs flexed and adducted, swallowing difficulties, feeding difficulties, respiratory distress, hypotonia, hypertrichosis, myopathy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-01 |
| References |
|---|
| Christian JC, Andrews PA, Conneally PM, and Muller J. (1971) The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. Clin Genet 2(2): 95-103. PubMed ID: 5116596 |
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