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Peters anomaly/Peters Plus syndrome

Peters plus syndrome

Peters Plus syndrome: Krause-Kivlin syndrome

Peters Plus syndrome is a rare disorder in which Peters anomaly is usually associated with short limb dwarfism and learning disability.

The cause of the syndrome is not known.

Features of Peters Plus syndrome associated with Peters anomaly may include:

  • learning disability in over eighty per cent of cases;
  • cleft lip and/or palate in over forty per cent of cases;
  • a short or broad head, thin upper lip with smooth philtrum;
  • hydrocephalus;
  • short hands with tapering or webbing of the fingers;
  • heart anomalies (see entry, heart defects);
  • cataracts;
  • genitourinary abnormalities;
  • hearing abnormality;
  • hypotonia and lax joints.

Inheritance patterns
Autosomal recessive.

Prenatal diagnosis
As no gene defect has been identified in Peters Plus syndrome, molecular prenatal diagnosis is not yet possible. However, in some cases, dysmorphic features of the fetus can be detected by ultrasound by twenty weeks gestation.

View Inheritance patterns and prenatal diagnosis Inheritance patterns and prenatal diagnosis  |  Is there support? View Is there support?

Medical text written January 2006 by Contact a Family. Approved January 2006 by Miss Isabelle Russell-Eggitt FRCS FRCOphth, Consultant Ophthalmic Surgeon, Great Ormond Street Hospital, London, UK.

 

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