Cono-spondylar dysplasia

disorder

SNOMED 766874001CUI C4707860

Overview

Cono-spondylar dysplasia 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.

Central hypotonia

Always present (100%)HP:0001252

Dysostosis multiplex

Always present (100%)HP:0000943

Cone-shaped epiphyses of the fingers

Very frequent (80-99%)HP:0010230

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Abnormal development of the ends of long bones in arms and legs

Frequent (30-79%)HP:0002656

Brachydactyly

Frequent (30-79%)HP:0001156

Decreased projection of midface

Frequent (30-79%)HP:0011800

Epilepsy

Frequent (30-79%)HP:0001250

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Hunched back

Frequent (30-79%)HP:0002808

Incoordination

Frequent (30-79%)HP:0002311

Increased distance between eyes

Frequent (30-79%)HP:0000316

Low-set ears

Frequent (30-79%)HP:0000369

Malformation of face

Frequent (30-79%)HP:0001999

Nostrils anteverted

Frequent (30-79%)HP:0000463

Poor weight gain

Frequent (30-79%)HP:0001508

Scoliosis

Frequent (30-79%)HP:0002650

Short 4th toe

Frequent (30-79%)HP:0008093

Short nails

Frequent (30-79%)HP:0001799

Short neck

Frequent (30-79%)HP:0000470

Skeletal anomalies

Frequent (30-79%)HP:0000924

Food intolerance

Occasional (5-29%)HP:0012537

Humeral hypoplasia

Occasional (5-29%)HP:0005792

Hydramnios

Occasional (5-29%)HP:0001561

Partial or complete agenesis of corpus callosum

Occasional (5-29%)HP:0001338

Short lower limbs

Occasional (5-29%)HP:0006385

Related Conditions

Hereditary disorder of musculoskeletal system(parent)

Brachydactyly(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Spondyloepimetaphyseal disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 766874001
UMLS CUI: C4707860
Fully Specified Name: Cono-spondylar dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.