distal arthrogryposis type 5D
Findings
No curated finding names distal arthrogryposis type 5D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.
Definition from the Mondo Disease Ontology (MONDO:0014028), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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 hip dislocationHPOHP:0001374
- 9 of 9 reported patients
- Decreased muscle massHPOHP:0003199
- 10 of 10 reported patients
- HyperlordosisHPOHP:0003307
- 9 of 9 reported patients
- Limited knee flexionHPOHP:0006389
- 10 of 10 reported patients
- Short neckHPOHP:0000470
- 10 of 10 reported patients
- Tongue atrophyHPOHP:0012473
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.
- ECEL1HGNC:3147
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: distal arthrogryposis type 5D
- Also called
- DA5Ddistal arthrogryposis caused by mutation in ECEL1distal arthrogryposis type 5 without ophthalmoparesisdistal arthrogryposis type 5 without ophthalmoplegiaECEL1 distal arthrogryposis