Which conditions and syndromes are associated with arthrogryposis multiplex congenita (AMC), and how do mitochondrial respiratory chain complex deficiencies affect the differential diagnosis?

Updated: Nov 11, 2020
  • Author: Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Other associated syndromes and conditions include absence of dermal ridges, absence of distal interphalangeal joint (DIP) creases, amniotic bands, antecubital webbing, camptodactyly, coalition, humeroradial synostosis, familial impaired pronation and supination of forearm, Liebenberg syndrome, nail-patella syndrome, Nievergelt-Pearlman syndrome, Poland anomaly, radioulnar synostosis, symphalangism, symphalangism-brachydactyly, Tel-Hashomer camptodactyly, and trismus pseudocamptodactyly.

A link exists between a variety of mitochondrial respiratory chain complex deficiencies and contractures of varying severity. Therefore, the differential diagnosis of neonatal arthrogryposis should include mitochondrial disorders, especially if the patient displays other characteristic findings, such as lactic acidemia or basal ganglia abnormalities. [25]

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