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[Roberts-SC phocomelia syndrome].

D A Musfeld1, E M Bühler, S Heinzl

  • 1Facharzt für Gynäkologie und Geburtshilfe, Praxisklinik Binningen, Schweiz, Germany. info@praxisklinik-binningen.ch

Gynakologisch-Geburtshilfliche Rundschau
|June 26, 2001
PubMed
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Roberts-SC phocomelia syndrome is a rare genetic disorder causing limb malformations and growth issues. Affected individuals often exhibit craniofacial abnormalities and developmental delays.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Roberts-SC phocomelia syndrome is a rare, autosomal recessive inherited disorder.
  • It presents with a complex phenotype affecting multiple organ systems.

Observation:

  • Clinical manifestations include tetraphocomelia (severe limb reduction), growth retardation (pre- and postnatal), and craniofacial abnormalities.
  • Associated anomalies can involve the eyes, lips, palate, kidneys, heart, and genitalia.
  • Centromere abnormalities, such as puffing and splitting, have been noted in some cases.

Findings:

  • The syndrome's hallmark is severe limb malformation (tetraphocomelia).
  • Craniofacial dysmorphism, growth deficits, and intellectual disability are common in affected individuals.

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  • A spectrum of other congenital anomalies may be present, indicating a multi-system disorder.

    • Implications:

    • Understanding Roberts-SC phocomelia syndrome aids in genetic counseling and family planning.
    • Early diagnosis and management are crucial for addressing associated medical conditions and developmental challenges.
    • Further research into the genetic basis and molecular mechanisms can inform therapeutic strategies.