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Ramos Arroyo syndrome

disorder
SNOMED 723504000CUI C2930866

Overview

Ramos Arroyo syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal morphology of the midface
Very frequent (80-99%)HP:0000309
Corneal hypesthesia
Very frequent (80-99%)HP:0012155
Absent retinal pigment epithelium
Frequent (30-79%)HP:0007980
Aganglionic megacolon
Frequent (30-79%)HP:0002251
Autonomic dysregulation
Frequent (30-79%)HP:0012332
Bilateral nerve deafness
Frequent (30-79%)HP:0008619
Boxer's nose deformity
Frequent (30-79%)HP:0011120
Choriocapillaris atrophy
Frequent (30-79%)HP:0030491
Concave bridge of nose
Frequent (30-79%)HP:0005280
Corneal inflammation
Frequent (30-79%)HP:0000491
Decreased body weight
Frequent (30-79%)HP:0004325
Decreased visual acuity
Frequent (30-79%)HP:0007663
Delayed gross motor development
Frequent (30-79%)HP:0002194
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased distance between eyes
Frequent (30-79%)HP:0000316
Lacrimal duct obstruction
Frequent (30-79%)HP:0000579
Mongoloid slant
Frequent (30-79%)HP:0000582
PDA
Frequent (30-79%)HP:0001643
Poor school performance
Frequent (30-79%)HP:0001249
Protruding forehead
Frequent (30-79%)HP:0011220
Severe weight faltering
Frequent (30-79%)HP:0001525
Short stature, severe
Frequent (30-79%)HP:0003510
Transverse excess of face
Frequent (30-79%)HP:0000283
Atria septal defect
Occasional (5-29%)HP:0001631
Atrophy of lingual surface
Occasional (5-29%)HP:0010298
Chorioretinal atrophy
Occasional (5-29%)HP:0000533
Chronic constipation
Occasional (5-29%)HP:0012450
Coanal stenosis
Occasional (5-29%)HP:0000452
Corneal ulcerations
Occasional (5-29%)HP:0012804
Dacrocystitis
Occasional (5-29%)HP:0000620

Related Conditions

Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Hearing loss associated with syndrome(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Hereditary hearing loss(parent)

Quick Facts

SNOMED CT
723504000
UMLS CUI
C2930866
Fully Specified Name
Ramos Arroyo syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.