Camptodactyly with joint contracture and facial skeletal defect syndrome

disorder

SNOMED 715986009CUI C2931051

Overview

Camptodactyly with joint contracture and facial skeletal defect 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.

Abnormal calvaria morphology

Very frequent (80-99%)HP:0002683

Abnormal spinal segmentation

Very frequent (80-99%)HP:0003422

Abnormality of the hips

Very frequent (80-99%)HP:0003272

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Decreased width of the skull

Very frequent (80-99%)HP:0004422

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Fusion of wrist bones

Very frequent (80-99%)HP:0005048

High forehead

Very frequent (80-99%)HP:0000348

Low posterior hair line

Very frequent (80-99%)HP:0002162

Narrow mouth

Very frequent (80-99%)HP:0000160

Narrow palate

Very frequent (80-99%)HP:0000189

Partial syndactyly

Very frequent (80-99%)HP:0006101

Prominent globes

Very frequent (80-99%)HP:0000520

Prominent swayback

Very frequent (80-99%)HP:0003307

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Squint

Very frequent (80-99%)HP:0000486

Stiff joint

Very frequent (80-99%)HP:0001387

Unbalanced face

Very frequent (80-99%)HP:0000324

Uneven or disproportionate growth of one body part compared to another

Very frequent (80-99%)HP:0100555

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Related Conditions

Camptodactyly(parent)

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

Flexion contracture(parent)

Quick Facts

SNOMED CT: 715986009
UMLS CUI: C2931051
Fully Specified Name: Camptodactyly with joint contracture and facial skeletal defect 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.