Rare Ophthalmology News
Advertisement
Disease Profile
Naguib-Richieri-Costa syndrome
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 >
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Hypertelorism hypospadias polysyndactyly syndrome; Acrofrontofacionasal dysostosis, severe; AFFN dysostosis 2;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases
Summary
Orpha Number: 2211
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 |
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 |
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 |
0000501 | ||
Long philtrum | 0000343 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
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 | ||
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 |
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 |
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.