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Acro-oto-ocular syndrome

disorder
SNOMED 720410001CUI C1849661

Overview

Acro-oto-ocular 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 earlobe morphology
Frequent (30-79%)HP:0000363
Abnormal finger flexion crease
Frequent (30-79%)HP:0006143
Abnormality of facial musculature
Frequent (30-79%)HP:0000301
Angle class 3 malocclusion
Frequent (30-79%)HP:0000689
Blepharophimosis
Frequent (30-79%)HP:0000581
Choking episodes
Frequent (30-79%)HP:0030842
Cutaneous syndactyly of digits
Frequent (30-79%)HP:0012725
Decreased body height
Frequent (30-79%)HP:0004322
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Decreased response to growth hormone stimulation test
Frequent (30-79%)HP:0000824
Decreased size of cranium
Frequent (30-79%)HP:0000252
Decreased thenar eminence
Frequent (30-79%)HP:0001245
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
External auditory meatal atresia
Frequent (30-79%)HP:0000413
Greyish enamel
Frequent (30-79%)HP:0000683
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Hyperpigmented nevi
Frequent (30-79%)HP:0007481
Hypoplastic palmar creases
Frequent (30-79%)HP:0006184
Increased tooth count
Frequent (30-79%)HP:0011069
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Low birth weight
Frequent (30-79%)HP:0001518
Low-set ears
Frequent (30-79%)HP:0000369
Narrow, high-arched roof of mouth
Frequent (30-79%)HP:0002705
Ocular hypotelorism
Frequent (30-79%)HP:0000601
Palmar hyperkeratosis
Frequent (30-79%)HP:0010765
Palpebronasal fold
Frequent (30-79%)HP:0000286
Pectus excavatum
Frequent (30-79%)HP:0000767
Prominent calcaneus
Frequent (30-79%)HP:0012428
Pseudopapilledema
Frequent (30-79%)HP:0000538

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)
Pseudopapilledema(parent)
Recessive hereditary disorder (autosomal)(parent)
Inherited optic neuropathy(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
720410001
UMLS CUI
C1849661
Fully Specified Name
Acrootoocular 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.