CCA - Congenital contractural arachnodactyly

disorder

SNOMED 205821003CUI C0220668

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Congenital finger contractures

Always present (100%)HP:0005879

Fixed flexion at the elbow joint

Always present (100%)HP:0002987

Flexion contractures of knees

Always present (100%)HP:0006380

Increased upper to lower segment ratio

Always present (100%)HP:0012774

Abnormally folded helix

Very frequent (80-99%)HP:0008544

Arachnodactyly

Very frequent (80-99%)HP:0001166

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Cauliflower ear

Very frequent (80-99%)HP:0009901

Congenital joint contractures

Very frequent (80-99%)HP:0002803

Congenital kyphoscoliosis

Very frequent (80-99%)HP:0008453

Flexion contractures

Very frequent (80-99%)HP:0001371

High arched palate

Very frequent (80-99%)HP:0000218

Limited forearm extension

Very frequent (80-99%)HP:0001377

Limited knee extension

Very frequent (80-99%)HP:0003066

Muscular abnormality

Very frequent (80-99%)HP:0003011

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Scoliosis

Very frequent (80-99%)HP:0002650

Slender build

Very frequent (80-99%)HP:0001533

Stiff joint

Very frequent (80-99%)HP:0001387

Bowed long bones

Frequent (30-79%)HP:0006487

Camptodactyly

Frequent (30-79%)HP:0012385

Disproportionate tall stature

Frequent (30-79%)HP:0001519

Elbow contracture

Frequent (30-79%)HP:0034391

Increased aortic root diameter

Frequent (30-79%)HP:0002616

Knee contractures

Frequent (30-79%)HP:0034671

Kyphoscoliosis

Frequent (30-79%)HP:0002751

Subluxation of patella

Frequent (30-79%)HP:0010499

Thumb-in-palm pattern

Frequent (30-79%)HP:0001181

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of lens position

Occasional (5-29%)HP:0001083

Related Conditions

Arachnodactyly(parent)

Autosomal dominant hereditary disorder(parent)

Inherited arthrogryposis(parent)

Distal arthrogryposis syndrome(parent)

Quick Facts

SNOMED CT: 205821003
UMLS CUI: C0220668
Fully Specified Name: Congenital contractural arachnodactyly (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.