Naguib-Richieri-Costa Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Naguib-Richieri Costa's syndrome is a very rare congenital disease with the main features hypertelorism , hypospadias and polydactyly . (2)

Synonyms are: acro-fronto-facio-nasal dysplasia; English acrofrontofacionasal dysostosis type 2; Acrofrontofacionasal syndrome type 2; AFFN dysostosis; AFFND2

The term was coined in 1992 by the human geneticist Ahmad S. Teebi from Kuwait as a reference to the first description, the Kuwaiti human geneticist KK Naguib (1988) and the Brazilian doctor A. Richieri-Costa and colleagues (1989).

distribution

The frequency is given as less than 1 in 1,000,000, so far only a few affected families have been described. Inheritance is autosomal - recessive .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

Individual evidence

  1. a b c Hypertelorism-hypospadias-polysyndactyly syndrome. In: Orphanet (Rare Disease Database).
  2. KK Naguib: Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: a new syndrome? In: American journal of medical genetics. Vol. 29, No. 1, January 1988, pp. 35-41, doi: 10.1002 / ajmg.1320290105 , PMID 2830788 .
  3. ^ A. Richieri-Costa, L. Montagnoli, TY Kamiya: Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. In: American journal of medical genetics. Vol. 33, No. 1, May 1989, pp. 121-124, doi: 10.1002 / ajmg.1320330118 , PMID 2750779 .
  4. AS Teebi: Naguib-Richieri-Costa syndrome: hypertelorism, hypospadias, and polysyndactyly syndrome. In: American journal of medical genetics. Vol. 44, No. 1, September 1992, pp. 115-117, doi: 10.1002 / ajmg.1320440127 , PMID 1325738 .
  5. ACROFRONTOFACIONASAL DYSOSTOSIS 2.  In: Online Mendelian Inheritance in Man . (English)