- Adducted thumb syndrome
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Adducted thumb syndrome Classification and external resources OMIM 201550 DiseasesDB 31689 Adducted thumb syndrome recessive form, also known as Christian syndrome or Craniostenosis arthrogryposis cleft palate, is a rare disease affecting multiple systems which causes malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian the first person to describe the condition. Christian-Andrews-Conneally-Muller syndrome is another term, named after the other authors (P. A. Andrews, P. M. Conneally and Jans Muller) of the original publication.[1][2]
Contents
Genetics
The disease was documented in 1971 by Dr. Joe Christian and three associates after examining three Amish siblings.[3]
Adducted thumb syndrome has an autosomal recessive pattern of inheritance.
All six parents shared a common ancestral couple, making this a possible issue with consanguinity.[4] Inheritance is believed to be autosomal recessive.
Diagnosis
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, 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.[5] 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.[6] The thumb will normally extend as a result of this reflex.
References
- ^ http://www.whonamedit.com/synd.cfm/1193.html
- ^ Christian, Joe C.; Andrews, P. A.; Conneally, P. M.; Muller, Jans (2008). "The adducted thumbs syndrome". Clinical Genetics 2 (2): 95–103. doi:10.1111/j.1399-0004.1971.tb00262.x. PMID 5116596.
- ^ Christian JC, Andrews PA, Conneally PM, Muller J (1971). "The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate". Clin. Genet. 2 (2): 95–103. doi:10.1111/j.1399-0004.1971.tb00262.x. PMID 5116596.
- ^ Fitch N, Levy EP (1975). "Adducted thumb syndromes". Clin. Genet. 8 (3): 190–8. doi:10.1111/j.1399-0004.1975.tb01493.x. PMID 1175322.
- ^ Kunze J, Park W, Hansen KH, Hanefeld F (1983). "Adducted thumb syndrome. Report of a new case and a diagnostic approach". Eur. J. Pediatr. 141 (2): 122–6. doi:10.1007/BF00496805. PMID 6662143.
- ^ Anderson TE, Breed AL (1981) "Congenital clasped thumb and the Moro reflex". (Letter) J Pediat. 99:664-665
External links
Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Short stature 1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndromeLimbs Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail–patella syndrome · Rubinstein-Taybi syndromeOvergrowth Laurence-Moon-Bardet-Biedl Bardet–Biedl syndrome · Laurence-Moon syndromeCombined/other,
known locus3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)Also associated with the Adducted Thumb condition is a rare genetic syndrome, an isochromosome, Tetrasomy 18p.
Categories:- Autosomal recessive disorders
- Rare diseases
- Syndromes
- Genetic disorders with OMIM but no gene
- Genetic disorder stubs
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