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  3. Naguib-Richieri-Costa syndrome
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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


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

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


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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.

Showing of 44 |
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 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
V-shaped frontal hairline
[ more ]
0000349
Showing of 44 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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 Genetics Home Reference.

Learn More Learn More


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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.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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