Naguib-Richieri-Costa syndrome




Naguib-Richieri-Costa syndrome (NRCS) is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. It has been described in three consanguineous families, with parents being first cousins.

The suggested inheritance pattern is autosomal recessive, with an incidence of less than 1 per million. 


Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit.


Autosomal recessive inheritance pattern in consanguineous families. 


Genetic counselling may help in families where the disease occurred previously. 


Diagnosis of the NRCS is based on the clinical picture. The underlying genetic mutation has not been established. 


NRCS is a lifelong condition. 


No treatment is available for the Naguib-Richieri-Costa syndrome.



[2] Richieri-Costa, A., Montagnoli, L., Kamiya, T. Y. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies. Am. J. Med. Genet. 33: 121-124, 1989.

[3] Teebi, A. S. Naguib-Richieri-Costa syndrome: hypertelorism, hypospadias, and polysyndactyly syndrome. (Letter) Am. J. Med. Genet. 44: 115-116, 1992.

[4] Chaabouni, M., Maazoul, F., Ben Hamida, A., Berhouma, M., Marrakchi, Z., Chaabouni, H. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. Am. J. Med. Genet. 146A: 1825-1827, 2008.

[5] Naguib, K. K. Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: a new syndrome? Am. J. Med. Genet. 29: 35-41, 1988.