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Disease Profile

Ramos Arroyo Clark 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

Infancy

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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.

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)

Corneal anesthesia-deafness-intellectual disability syndrome; Ramos-Arroyo syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases

Summary

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

Orpha Number: 1051

Definition
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.

Epidemiology
Prevalence and incidence are not known. RAS is extremely rare with only six cases reported to date.

Clinical description
The phenotype in RAS is variable. Some affected individuals have only mild disease manifestations. Characteristic features include corneal anesthesia, nasolacrimal duct obstruction, absent peripapillary choriocapillaris and retinal pigment epithelium, poor visual acuity, and moderate to severe sensorineural deafness. Developmental delay and intellectual disability are common. Patent ductus arteriosus, Hirschsprung disease, and short stature have also been observed. Affected individuals have a distinct facial appearance with a broad face, prominent forehead, hypertelorism, upslanting palpebral fissures, concave nasal ridge, and underdeveloped midface. Feeding problems and failure to thrive are common in infancy. Challenging behavior has been reported in two cases. Overlap with the group of diseases known as hereditary sensory and autonomic neuropathy (HSAN, see this term) has been suggested.

Etiology
The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected.

Genetic counseling
RAS follows an autosomal dominant pattern of inheritance, probably with variable expressivity.

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
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
Intellectual disability
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 short stature
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
Congenital microcephaly
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
Autosomal dominant inheritance
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.