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

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Answer

Disorders with limb involvement and CNS dysfunction [12]

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 [24, 25, 21, 26]


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