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Start free with EleplanRamos-Arroyo syndrome
ORPHA:1051Malformation syndrome
Also called Corneal anesthesia-deafness-intellectual disability syndrome · Corneal anesthesia-hearing loss-intellectual disability syndrome
What it is
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, short stature, and intellectual disability.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
21- Abnormal autonomic nervous system physiology
- Absent retinal pigment epithelium
- Aganglionic megacolon
- Bilateral sensorineural hearing impairment
- Broad face
- Choriocapillaris atrophy
- Concave nasal ridge
- Decreased body weight
- Delayed gross motor development
- Depressed nasal bridge
- Frontal bossing
- Hypertelorism
- Intellectual disability
- Keratitis
- Nasolacrimal duct obstruction
- Patent ductus arteriosus
- Prominent forehead
- Reduced visual acuity
- Severe failure to thrive
- Severe short stature
- Upslanted palpebral fissure
Sometimes5–29%
23- Anteverted nares
- Atrial septal defect
- Carious teeth
- Choanal stenosis
- Chorioretinal atrophy
- Chronic constipation
- Corneal ulceration
- Dacryocystitis
and 15 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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