autosomal recessive cutis laxa type 2B
Findings
No curated finding names autosomal recessive cutis laxa type 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
Definition from the Mondo Disease Ontology (MONDO:0013051), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Third trimester 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.
- Broad foreheadHPOHP:0000337
- 5 of 5 reported patients
- Bruising susceptibilityHPOHP:0000978
- 2 of 2 reported patients
- Cutis laxaHPOHP:0000973
- 6 of 6 reported patients
- Dermal translucencyHPOHP:0010648
- 6 of 6 reported patients
- Excessive wrinkled skinHPOHP:0007392
- 9 of 9 reported patients
- Failure to thriveHPOHP:0001508
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.
- PYCR1HGNC:9721
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive cutis laxa type 2B
- Also called
- ARCL2, progeroid typeARCL2Bautosomal recessive cutis laxa type 2 caused by mutation in PYCR1autosomal recessive cutis laxa type 2, progeroid typePYCR1 autosomal recessive cutis laxa type 2