autosomal recessive cutis laxa type 2, classic type
MONDO:0009054Mondo
Findings
No curated finding names autosomal recessive cutis laxa type 2, classic type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
56 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.
- Delayed closure of the anterior fontanelleHPOHP:0001476
- Obligate (100% of cases)
- Abnormal isoelectric focusing of serum transferrinHPOHP:0003160
- Very frequent (80% to 99% of cases)
- Abnormal subcutaneous fat tissue distributionHPOHP:0007552
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Coarse hairHPOHP:0002208
- Very frequent (80% to 99% of cases)
- Cutis laxaHPOHP:0000973
- Very frequent (80% to 99% of cases)
- Decreased muscle massHPOHP:0003199
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- DementiaHPOHP:0000726
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
Reported absent (1)
- EmphysemaHPOHP:0002097
Show the remaining 44
- Excessive wrinkled skinHPOHP:0007392
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Fragmented elastic fibers in the dermisHPOHP:0025167
- Very frequent (80% to 99% of cases)
- Generalized joint hypermobilityHPOHP:0002761
Genes
3 genes
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.
Where it sits
- A kind of
Other names
4 names
Resolves to: autosomal recessive cutis laxa type 2, classic type
- Also called
- ARCL2, classic typeARCL2, Debré typeautosomal recessive cutis laxa type 2, Debre typeautosomal recessive cutis laxa type 2, Debré type