Which physical deformities are characteristic 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...
  • Print
Answer

Limb deformities include pterygium, shortening, webs, compression (eg, due to cord wrapping), absent patella, dislocated radial heads, and dimples.

Facies deformities include asymmetry, flat nasal bridge, and hemangioma. Jaw deformities include micrognathia and trismus. See the image below.

A mother and child both affected with trismus pseu A mother and child both affected with trismus pseudocamptodactyly. Note the small mouth (with limited ability to open) and flexion contractures of fingers on dorsiflexion.

Other deformities include scoliosis, genital deformities (cryptorchidism, lack of labia, microphallus), and hernia (inguinal, umbilical).

Other features of the fetal akinesia sequence include intrauterine growth retardation, pulmonary hypoplasia, and craniofacial anomalies such as hypertelorism, cleft palate, depressed nasal tip, high nasal bridge, functional short gut with feeding problems, and short umbilical cord.

Absent or distorted crease abnormalities are a result of aberrant form or function in early hand or foot development. See the image below.

An infant with distal arthrogryposis type I. Note An infant with distal arthrogryposis type I. Note medially overlapping fingers, tightly clenched fists, and positional foot contractures.

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