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Disease Profile
Ramos Arroyo Clark 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.
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Age of onset
Infancy
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)
Corneal anesthesia-deafness-intellectual disability syndrome; Ramos-Arroyo syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases
Summary
Orpha Number: 1051
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 | ||
Abnormality of the midface | 0000309 | |
Decreased corneal sensation | 0012155 | |
30%-79% of people have these symptoms | ||
Abnormal autonomic nervous system physiology | 0012332 | |
Absent retinal pigment epithelium | 0007980 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Bilateral sensorineural hearing impairment | 0008619 | |
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ] |
0000283 |
Choriocapillaris atrophy | 0030491 | |
Concave nasal ridge |
Boxer's nasal deformity
Boxer's nose deformity
Saddle nose
Ski jump nose
[ more ] |
0011120 |
Delayed gross motor development |
Delayed motor skills
|
0002194 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Frontal bossing | 0002007 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Keratitis |
Corneal inflammation
|
0000491 |
Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 |
Patent ductus arteriosus | 0001643 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Severe failure to thrive |
Severe faltering weight
Severe weight faltering
[ more ] |
0001525 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
5%-29% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
Chronic constipation |
Infrequent bowel movements
|
0012450 |
0011451 | ||
Corneal ulceration | 0012804 | |
Dacryocystitis | 0000620 | |
Deviated nasal septum |
Crooked nasal septum
Crooked septum of nose
Deviated septum of nose
[ more ] |
0004411 |
Feeding difficulties in infancy | 0008872 | |
Food intolerance | 0012537 | |
High anterior hairline |
High frontal hairline
|
0009890 |
Long philtrum | 0000343 | |
Narrow mouth |
Small mouth
|
0000160 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ] |
0000742 |
Shoulder dimple | 0010782 | |
Sleep-wake cycle disturbance | 0006979 | |
Smooth tongue |
Smooth surface of tongue
|
0010298 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] |
0002209 |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] |
0000217 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ] |
0001595 |
0000006 | ||
Broad eyebrow |
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow
[ more ] |
0011229 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Sensorineural hearing impairment | 0000407 | |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
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 Ramos Arroyo Clark syndrome. Click on the link to view a sample search on this topic.