Naguib-Richieri-Costa Syndrome
| 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:
- Facial dysmorphism with wide frontal fontanel , flat occiput , hypertelorism , ptosis , broad nasal root, long philtrum and abnormally attached auricles
- Hypospadias
- to the extremities syndactyly of the fingers, broad thumbs and big toes, preaxial polydactyly
Individual evidence
- ↑ a b c Hypertelorism-hypospadias-polysyndactyly syndrome. In: Orphanet (Rare Disease Database).
- ↑ 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 .
- ^ 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 .
- ↑ 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 .
- ↑ ACROFRONTOFACIONASAL DYSOSTOSIS 2. In: Online Mendelian Inheritance in Man . (English)
