Rare Hematology News

Disease Profile

Naguib-Richieri-Costa syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hypertelorism hypospadias polysyndactyly syndrome; Acrofrontofacionasal dysostosis, severe; AFFN dysostosis 2;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

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

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.

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.

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

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.