Spondylometaphyseal dysplasia, corneal dystrophy syndrome

disorder

SNOMED 1269226006CUI C5394555

Overview

Spondylometaphyseal dysplasia, corneal 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.

Beaking of vertebral bodies

Always present (100%)HP:0004568

Brachydactyly

Always present (100%)HP:0001156

Coarse metaphyseal trabecularization

Always present (100%)HP:0100670

Flat nasal bridge

Always present (100%)HP:0005280

Hypotonia, in neonatal onset

Always present (100%)HP:0001319

Increased distance between eyes

Always present (100%)HP:0000316

Increased intervertebral space

Always present (100%)HP:0030320

Low chest circumference

Always present (100%)HP:0000774

Lumbar platyspondyly

Always present (100%)HP:0005787

Nasal hypoplasia

Always present (100%)HP:0003196

Nostrils anteverted

Always present (100%)HP:0000463

PDA

Always present (100%)HP:0001643

Prominent globes

Always present (100%)HP:0000520

Respiratory distress, neonatal

Always present (100%)HP:0002643

Scarring or clouding of the cornea of the eye

Always present (100%)HP:0007957

Short limbs

Always present (100%)HP:0009826

Short ribs

Always present (100%)HP:0000773

shortened long tubular bones

Always present (100%)HP:0003026

Square iliac bones

Always present (100%)HP:0003177

Thoracic platyspondyly

Always present (100%)HP:0004592

Widened metaphyses

Always present (100%)HP:0003016

Global developmental delay, severe

HP:0011344

Related Conditions

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Hereditary corneal dystrophy(parent)

Spondylometaphyseal dysplasia(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1269226006
UMLS CUI: C5394555
Fully Specified Name: Spondylometaphyseal dysplasia, corneal dystrophy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.