Adducted thumb syndrome recessive form
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Adducted thumb syndrome recessive form is a rare disease also known as Christian syndrome or Craniosynostosis arthrogryposis cleft palate. The disease was first documented in 1971 by Dr. Joe Christian and three associates after examining three Amish siblings. Inheritance is believed to be autosomal recessive.
This syndrome is associated with microcephaly, arthrogryposis, and cleft palate and varied craniofacial, respiratory, neurological, and limb abnormalities, including bone and joint defects of the upper limbs, abducted thumbs, camptodactyly, and talipes equinovarus or calcaneovalgus. Patients with the disease are considered mentally retarded, and most die in childhood. Patients often suffer from respiratory difficulties, such as pneumonia, and from seizures due to dysmyelination in the white matter.
Historical Reference
Christian J.C., Andrews P.A., Conneally P.M., Muller J. "The abducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniosynostosis, and cleft palate." Clin Genet (Copenhagen), 1971, 2:95-103
Bibliography
- Anderson T.E., Breed A.L. "Congenital clasped thumb and the Moro reflex." (Letter). J Pediat, 1981, 99:664-5
- Fitch N., Levy E.P. "Abducted thumb syndromes." Clin Genet (Copenhagen), 1975, 8:190-8 [MEDLINE]
- Kunze J. et al. "Abducted thumbs syndrome. Report of a new case and a diagnostic approach." Eur J Pediat, 1983, 141:122-6
External Links
- Whonamedit.com entry on Christian syndrome (http://www.whonamedit.com/synd.cfm/1193.html)