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Majewski Osteodysplastic Primordial Dwarfism Type II

What are the symptoms?

The features include:

  • Low birth weight at full-term delivery, typically just over 1kg (2.3lbs) and with a length of 40.6cm (16");
  • Microcephaly (small head) see entry - usually average at birth but becoming smaller in proportion as the child grows;
  • Conspicuous nose;
  • Dental anomalies;
  • Scoliosis (sideways curvature of the spine) and kyphosis (outward curvature of the chest area of the spine) in later childhood;
  • Disproportionate development of the forearm;
  • Dislocation of the hip at birth in some children (see entry, Congenital Dislocation and Developmental Dysplasia of the Hip) and bowing of the knees laterally with age which may lead to dislocation;
  • Sparse and fine hair in some children;
  • In adulthood, a typical height of less than 1m (39");
  • Precocious Puberty (see entry, Premature Sexual Maturation) in some girls;
  • Farsightedness in some children with MOPD II (see entry, Vision Disorders in Childhood);
  • Renal anomalies (see entry, Kidney disease) are found in some children;
  • Aneurisms (small out pouching of the blood vessels in the head) which lead to a predisposition to stroke-like episodes (see entry, Stroke) have been seen in a number of children in the form of Moya Moya disease.

View Background Background  |  What are the causes? View What are the causes?

Medical text written August 2006 by Contact a Family. Last updated October 2006 by Professor J Hall, Professor Emerita of Pediatrics and Medical Genetics, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, Canada.

 

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