Naguib-Richieri-Costa syndrome

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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

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: 10/1/2010

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Brachycephaly	Short and broad skull	0000248
Delayed cranial suture closure		0000270
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Epispadias		0000039
Finger syndactyly		0006101
Flat occiput		0005469
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypospadias		0000047
Large fontanelles	Wide fontanelles	0000239
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Preaxial hand polydactyly	Extra thumb	0001177
Shawl scrotum	Scrotum surrounds penis	0000049
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Bifid scrotum	Cleft of scrotum	0000048
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Broad hallux phalanx	Broad bone of big toe Wide bone of big toe [ more ]	0010059
Broad thumb	Broad thumbs Wide/broad thumb [ more ]	0011304
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Eyelid coloboma	Cleft eyelid Notched eyelid [ more ]	0000625
Glaucoma		0000501
Long philtrum		0000343
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Ptosis	Drooping upper eyelid	0000508
5%-29% of people have these symptoms
Abnormal toenail morphology	Abnormality of the toenail Abnormality of the toenails [ more ]	0008388
Encephalocele		0002084
Exencephaly		0030769
Macrogyria		0007227
Pachygyria	Fewer and broader ridges in brain	0001302
Polymicrogyria	More grooves in brain	0002126
Sacral dimple	Spinal dimple	0000960
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Hand polydactyly	Extra finger	0001161
High palate	Elevated palate Increased palatal height [ more ]	0000218
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Overfolded helix	Overfolded ears	0000396
Redundant neck skin	Excess neck skin Excess skin over the neck Redundant skin folds of neck Redundant skin over the neck [ more ]	0005989
Short stature	Decreased body height Small stature [ more ]	0004322
Syndactyly	Webbed fingers or toes	0001159
Thickened nuchal skin fold	Thickened skin folds of neck Thickened skin over the neck [ more ]	0000474
Wide anterior fontanel	Wider-than-typical soft spot of skull	0000260
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
Widow's peak	Hairline peak Hairline point Pointed hairline at front of head V-shaped frontal hairline [ more ]	0000349

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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 MedlinePlus Genetics.

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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News

Rare Disease Day at NIH 2021
March 1, 2021

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