Adducted thumb syndrome
| Adducted thumb syndrome | |
| OMIM | 201550 |
|---|---|
Overview
Adducted thumb syndrome recessive form is a rare disease also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate. The disease was first documented in 1971 by Dr. Joe Christian and three associates after examining three Amish siblings[1]. All six parents shared a common ancestral couple, making this a possible issue with consanguinity. An additional case was described in 1975[2]. Inheritance is believed to be autosomal recessive.
This syndrome is associated with microcephaly, arthrogryposis, and cleft palate and various craniofacial, respiratory, neurological, and limb abnormalities, including bone and joint defects of the upper limbs, adducted thumbs, camptodactly, 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.[3] It has been hypothesized that the Moro reflex (startle reflex in infants) may be a tool in detecting the congenital clapsed thumb early in infancy[4] The thumb will normally extend as a result of this reflex.
References
- ↑ Christian, J. C.; Andrews, P. A.; Conneally, P. M.; Muller, J. : The adducted thumbs syndrome: an autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. Clin. Genet. 2: 95-103, 1971
- ↑ Fitch, N.; Levy, E. P. :Adducted thumb syndromes. Clin. Genet. 8: 190-198, 1975
- ↑ Kunze, J.; Park, W.; Hansen, K.-H.; Hanefeld, F. :Adducted thumb syndrome: report of a new case and a diagnostic approach. Europ. J. Pediat. 141: 122-126, 1983
- ↑ Anderson, T. E.; Breed, A. L. Congenital clasped thumb and the Moro reflex. (Letter) J. Pediat. 99: 664-665, 1981.
External links
Template:Phakomatoses and other congenital malformations not elsewhere classified