Naguib-Richieri-Costa syndrome

Title

Other Names:

Hypertelorism hypospadias polysyndactyly syndrome; Acrofrontofacionasal dysostosis, severe; AFFN dysostosis 2; Hypertelorism hypospadias polysyndactyly syndrome; Acrofrontofacionasal dysostosis, severe; AFFN dysostosis 2; Naguib syndrome See More

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2211

Disease definition

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.

Epidemiology

It has been described in three families.

Clinical description

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.

Genetic counseling

The condition seems to be hereditary, and transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Last updated: 10/8/2010

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal recessive inheritance	-
Bifid scrotum	-
Brachycephaly	-
Broad forehead	-
Broad hallux	-
Broad thumb	-
Downslanted palpebral fissures	-
Hand polydactyly	-
High palate	-
Hypertelorism	-
Hypospadias	-
Low-set ears	-
Microcephaly	-
Overfolded helix	-
Posteriorly rotated ears	-
Proptosis	-
Ptosis	-
Redundant neck skin	-
Sacral dimple	-
Shawl scrotum	-
Syndactyly	-
Thickened nuchal skin fold	-
Wide anterior fontanel	-
Wide nose	-
Widow's peak	-

Last updated: 9/1/2017

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Naguib-Richieri-Costa syndrome. Click on the link to view a sample search on this topic.

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