Which conditions with limb involvement and CNS dysfunction are included in the differential diagnoses of arthrogryposis multiplex congenita (AMC)?

Updated: Nov 11, 2020
  • Author: Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
  • Print

Disorders with limb involvement and CNS dysfunction [13]

These include the following:

  • Associated chromosome abnormalities include 45,X; 47,XXY; 48,XXXY; 49,XXXXX; 49,XXXXY; trisomies (4p, 8, 8 mosaicism, 9, 9q, 10p, 10q, 11q, 13, 14, 15, 18, 21); and many others

  • Cerebrooculofacioskeletal syndrome (OMIM 214150) is a common lethal condition characterized by contractures, brain anomalies, dysmyelination, microphthalmia, cataracts, renal anomalies, and other visceral anomalies

  • Neu-Laxova syndrome (OMIM 256520) is a lethal autosomal recessive disorder characterized by dramatic contractures, intrauterine growth retardation, microcephaly, open eyes, tight ichthyotic skin, and severe CNS anomalies

  • Restrictive dermopathy (OMIM 275210) is a lethal autosomal recessive disorder characterized by contractures and failure of fetal skin to grow normally; this restricts fetal movement, leading to secondary contractures

  • Pena-Shokeir phenotype (OMIM 208150) is characterized by pulmonary hypoplasia, intrauterine growth retardation, polyhydramnios, short umbilical cord, unusual craniofacies, and short, fixed limbs; phenotype is caused by fetal akinesia rather than a specific syndrome [26, 27, 22, 28]

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!