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Nance-Horan syndrome

disorder
SNOMED 445257004CUI C0796085

Overview

Nance-Horan 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.

Anteverted ears
Always present (100%)HP:0040080
Bilateral crossbite
Always present (100%)HP:0000689
Decreased transverse dimension of face
Always present (100%)HP:0000275
Mulberry molar
Always present (100%)HP:0011092
Nuclear cataract
Always present (100%)HP:0100018
Screwdriver-shaped incisors
Always present (100%)HP:0006346
Autism
Very frequent (80-99%)HP:0000717
Cornea of eye less than 10mm in diameter
Very frequent (80-99%)HP:0000482
Hypertrophy of mandible
Very frequent (80-99%)HP:0000303
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Lens opacities
Very frequent (80-99%)HP:0000518
Nasal hypertrophy
Very frequent (80-99%)HP:0000448
Poor vision
Very frequent (80-99%)HP:0000505
Prominent nasal root
Very frequent (80-99%)HP:0000426
Tooth abnormalities
Very frequent (80-99%)HP:0000164
Visual loss
Very frequent (80-99%)HP:0000572
Increased tooth count
Frequent (30-79%)HP:0011069
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Prominent ear
Frequent (30-79%)HP:0000411
Shortened long bones of hand
Frequent (30-79%)HP:0010049
Squint
Frequent (30-79%)HP:0000486
Behavioral symptoms
Occasional (5-29%)HP:0000708
Decreased size of eyeball
Occasional (5-29%)HP:0000568
Glaucoma
Occasional (5-29%)HP:0000501
Retinal detachment
Occasional (5-29%)HP:0000541
Cataract, congenital
HP:0000519
Extra upper front tooth
HP:0006332
Gaps between teeth
HP:0000699
Large ears
HP:0000400
Moderate mental retardation
Excluded (<1%)HP:0002342

Quick Facts

SNOMED CT
445257004
UMLS CUI
C0796085
Fully Specified Name
Nance-Horan 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.