Mesomelia Synostosis Syndrome

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The Mesomelia-synostoses syndrome is a very rare congenital skeletal dysplasia and one of the mesomelic dysplasia . The main hallmarks are defects in the upper extremity bones , especially the ulna .

Synonyms are mesomelic dysplasia of the upper extremity , Fryns-Hofkens-Fabry syndrome , ulnar hypoplasia

The mesomelia synostosis syndrome should not be confused with the mesomelic dysplasia type Verloes-David-Pfeiffer with acral synostoses and the Fryns syndrome .

The name refers to the eponymous authors of the first description from 1988 by the Belgian human geneticists Jean-Pierre Fryns (* 1946 -) and Herman van den Berghe as well as G. Hofkens and G. Fabry .

distribution

The frequency is given as less than 1 in 1,000,000, and about 5 patients have been reported to date. The inheritance is autosomal dominant .

Clinical manifestations

Diagnostic criteria are

  • Absence of the ulna
  • Bending of the radius
  • Ulnar deviation of the fingers

Individual evidence

  1. ↑ a b Mesomelia synostosis syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ JP Fryns, G. Hofkens, G. Fabry, H. van den Berghe: Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias. In: Clinical genetics. Vol. 33, No. 1, January 1988, ISSN  0009-9163 , pp. 57-59, PMID 3342548 .
  3. ^ Right Diagnosis
  4. ↑ Rare Diseases

Web links