Ramos-Arroyo syndrome

Orpha code: 1051OMIM code: 122430

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.

Disease data
Classification

Malformation syndrome

Synonyms
Corneal anesthesia-deafness-intellectual disability syndrome
Zespół zaburzeń czucia rogówki, głuchoty i niepełnosprawności intelektualnej
Corneal anesthesia-hearing loss-intellectual disability syndrome
ORPHA code
1051
OMIM code
122430
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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