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

Dental problems

Very frequent (80-99%)HP:0000164

Hyperplasia of nose

Very frequent (80-99%)HP:0000448

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Lens opacities

Very frequent (80-99%)HP:0000518

Mandibular hyperplasia

Very frequent (80-99%)HP:0000303

Poor vision

Very frequent (80-99%)HP:0000505

Prominent nasal root

Very frequent (80-99%)HP:0000426

Visual loss

Very frequent (80-99%)HP:0000572

Dull intelligence

Frequent (30-79%)HP:0001249

Increased tooth count

Frequent (30-79%)HP:0011069

Protruding 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

Glaucoma

Occasional (5-29%)HP:0000501

Nanophthalmos

Occasional (5-29%)HP:0000568

Retinal detachment

Occasional (5-29%)HP:0000541

Cataract, congenital

HP:0000519

Extra upper front tooth

HP:0006332

Gaps between teeth

HP:0000699

Large pinnae

HP:0000400

Moderate mental retardation

Excluded (<1%)HP:0002342

Related Conditions

Congenital anomaly of tooth(parent)

Congenital cataract(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

X-linked dominant hereditary disease(parent)

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.