congenital contractural arachnodactyly
Findings
No curated finding names congenital contractural arachnodactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0007363), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
44 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital finger flexion contracturesHPOHP:0005879
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 1 of 1 reported patient
- Increased upper to lower segment ratioHPOHP:0012774
- 1 of 1 reported patient
- Knee flexion contractureHPOHP:0006380
- 1 of 1 reported patient
- Limited elbow extensionHPOHP:0001377
- 94 of 109 reported patients
- Limited knee extensionHPOHP:0003066
- 38 of 45 reported patients
- ArachnodactylyHPO
Show the remaining 32
- Congenital kyphoscoliosisHPOHP:0008453
- Very frequent (80% to 99% of cases)
- Crumpled earHPOHP:0009901
- 90 of 119 reported patients
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 30 of 102 reported patients
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FBN2HGNC:3604
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: congenital contractural arachnodactyly
- Also called
- Beals syndromeBeals-Hecht syndromeCCACCA syndromedistal arthrogryposis type 9