Alternative titles; symbols
SNOMEDCT: 1208482007; ORPHA: 251515; DO: 0111593;
Cytogenetic location: 2q31.3-q32.1 Genomic coordinates (GRCh38): 2:179,700,001-188,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2q31.3-q32.1 | Arthrogryposis, distal, type 10 | 187370 | Autosomal dominant | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120).
Hall et al. (1967) reported 33 cases of congenital short tendo calcaneus causing those affected to walk on their toes. There was no evidence in these cases for any underlying neuromuscular disease. Familial occurrence was noted in several cases, including an affected father and son, 2 affected brothers, and an affected brother and sister. Levine (1973) reported 5 cases in 2 generations of a kindred. A mildly affected father, who had had a mildly affected sister, produced 2 severely affected sons and one mildly affected daughter. The transmission pattern was consistent with autosomal dominant inheritance with variable expressivity.
Stevenson et al. (2006) reported a 5-generation Utah family in which multiple individuals were affected with plantar flexion contractures in an autosomal dominant pattern of inheritance. The authors termed the disorder distal arthrogryposis type 10 (DA10). Onset was typically in early childhood with the onset of ambulation manifest as toe walking. Most cases required surgical intervention to relieve the plantar contractures. Contractures of other joints were not consistently observed, but often involved the elbows. No affected individuals had clubfeet, calcaneovalgus deformities, hip dislocation, camptodactyly, or abnormal flexion creases, and all had normal neurologic and ocular exams. Selected MRI studies of affected joints in 2 individuals showed normal nerve and bone morphology with evidence of a chronic neuromuscular condition. The severity of the contractures varied among affected family members; some had subtle evidence of hamstring or wrist contractures that did not interfere with normal functioning. Stevenson et al. (2006) suggested that the disorder may be the same as that reported by Hall et al. (1967) and Levine (1973), although those cases were not reported to have had other affected joints.
In a large 5-generation Utah family with distal arthrogryposis and plantar tendon shortening, originally reported by Stevenson et al. (2006), Stevenson et al. (2006) performed genomewide linkage analysis and obtained a maximum lod score of 3.96 at marker D2S364 on chromosome 2q.
Hall, J. E., Salter, R. B., Bhalla, S. K. Congenital short tendo calcaneus. J. Bone Joint Surg. Br. 49: 695-697, 1967. [PubMed: 6073187]
Levine, M. S. Congenital short tendo calcaneus. Am. J. Dis. Child. 125: 858-859, 1973. [PubMed: 4708278] [Full Text: https://doi.org/10.1001/archpedi.1973.04160060062014]
Stevenson, D. A., Swoboda, K. J., Sanders, R. K., Bamshad, M. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am. J. Med. Genet. 140A: 2797-2801, 2006. [PubMed: 17103435] [Full Text: https://doi.org/10.1002/ajmg.a.31528]
Stevenson, D. A., Toydemir, R., Swoboda, K., Coon, H., Bamshad, M. A new autosomal dominant distal arthrogryposis syndrome characterized by plantar tendon contractures in large Utah kindred maps to 2q. (Abstract) Annual Meeting of the American Society of Human Genetics: New Orleans, La. 2006. P. 282.