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1.

Arthrogryposis, distal, type 1C

Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020). [from OMIM]

MedGen UID:
1722257
Concept ID:
C5436834
Disease or Syndrome
2.

Metacarpophalangeal joint contracture

A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [from HPO]

MedGen UID:
436889
Concept ID:
C2677209
Finding

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