Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

disorder

SNOMED 719205008CUI C4304887

Overview

Spondylometaphyseal dysplasia with cone-rod dystrophy 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.

Anomaly of the epiphyses

Very frequent (80-99%)HP:0005930

Bowed long bones

Very frequent (80-99%)HP:0006487

Bowed lower limbs

Very frequent (80-99%)HP:0002979

Brachydactyly

Very frequent (80-99%)HP:0001156

Bullet vertebral body

Very frequent (80-99%)HP:0003300

Cone-rod retinal dystrophy

Very frequent (80-99%)HP:0000548

Coxa vara

Very frequent (80-99%)HP:0002812

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Irregular metaphyses

Very frequent (80-99%)HP:0003025

Ivory epiphyses

Very frequent (80-99%)HP:0010583

Metaphyseal spurs

Very frequent (80-99%)HP:0005054

Phalangeal hypoplasia

Very frequent (80-99%)HP:0009803

Poor vision

Very frequent (80-99%)HP:0000505

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

Retinal thinning

Very frequent (80-99%)HP:0030329

Rhizomelic limb shortening

Very frequent (80-99%)HP:0008905

Short stature, severe

Very frequent (80-99%)HP:0003510

Shortened long bones of hand

Very frequent (80-99%)HP:0010049

shortened long tubular bones

Very frequent (80-99%)HP:0003026

Splayed metaphyses

Very frequent (80-99%)HP:0003015

Abnormality of refraction

Frequent (30-79%)HP:0000539

Cupped ribs

Frequent (30-79%)HP:0000887

Femoral spur

Frequent (30-79%)HP:0031171

Narrow sciatic notches

Frequent (30-79%)HP:0003375

Short and small iliac bones

Frequent (30-79%)HP:0000946

Abnormally small eyeball

Occasional (5-29%)HP:0000568

Corectopia

Occasional (5-29%)HP:0009918

Corneal opacity

Occasional (5-29%)HP:0007957

Decreased plasma Tg levels

Occasional (5-29%)HP:0012153

Eye muscle paralysis

Occasional (5-29%)HP:0000602

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Spondylometaphyseal dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

Chronic musculoskeletal disorder(parent)

Hereditary degenerative disease of central nervous system(parent)

Chronic nervous system disease(parent)

Hereditary retinal dystrophy(parent)

Disorder of visual pathways(parent)

Quick Facts

SNOMED CT: 719205008
UMLS CUI: C4304887
Fully Specified Name: Spondylometaphyseal dysplasia with cone-rod dystrophy 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.