Ramos-Arroyo syndrome
MONDO:0007382Mondo
Findings
No curated finding names Ramos-Arroyo syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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, short stature, and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0007382), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal midface morphologyHPOHP:0000309
- Very frequent (80% to 99% of cases)
- Decreased corneal sensationHPOHP:0012155
- Very frequent (80% to 99% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Absent retinal pigment epitheliumHPOHP:0007980
- Frequent (30% to 79% of cases)
- Aganglionic megacolonHPOHP:0002251
- Frequent (30% to 79% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- Broad faceHPOHP:0000283
- Frequent (30% to 79% of cases)
- Choriocapillaris atrophyHPOHP:0030491
- Frequent (30% to 79% of cases)
- Concave nasal ridgeHPOHP:0011120
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
Show the remaining 34
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- KeratitisHPOHP:0000491
- Frequent (30% to 79% of cases)
- Nasolacrimal duct obstructionHPOHP:0000579
- Frequent (30% to 79% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Ramos-Arroyo syndrome
- Also called
- corneal anesthesia-deafness-intellectual disability syndrome