Lethal congenital contracture syndrome type 1

disorder

SNOMED 715418007CUI C1854664

Overview

Lethal congenital contracture syndrome type 1 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.

Abnormality of the hips

Very frequent (80-99%)HP:0003272

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Muscle degeneration

Very frequent (80-99%)HP:0003202

Poorly developed lungs

Very frequent (80-99%)HP:0002089

Abnormal compact bone morphology

Frequent (30-79%)HP:0003103

Abnormality of the elbow

Frequent (30-79%)HP:0009811

Increased amniotic fluid index

Frequent (30-79%)HP:0001561

Increased fracture rate

Frequent (30-79%)HP:0002757

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Pseudoainhum

Frequent (30-79%)HP:0009775

Pterygium colli

Frequent (30-79%)HP:0000465

Rib anomalies

Frequent (30-79%)HP:0000772

Short neck

Frequent (30-79%)HP:0000470

Slender long bone

Frequent (30-79%)HP:0003100

Abnormal vertebral bodies

Occasional (5-29%)HP:0003312

Abnormality of the amniotic fluid

HP:0001560

Abnormality of the chest

HP:0000765

Arthrogryposis multiplex

HP:0002804

Paucity of anterior horn motor neurons

HP:0007277

Underdeveloped muscles

HP:0009004

Water retention

HP:0000969

Widening of cervical spinal canal

HP:0004571

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Inherited arthrogryposis(parent)

Quick Facts

SNOMED CT: 715418007
UMLS CUI: C1854664
Fully Specified Name: Lethal congenital contracture syndrome type 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.