multiple benign circumferential skin creases on limbs
MONDO:0007990Mondo
Findings
No curated finding names multiple benign circumferential skin creases on limbs yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
30 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.
- EdemaHPOHP:0000969
- Very frequent (80% to 99% of cases)
- Increased number of skin foldsHPOHP:0007522
- Very frequent (80% to 99% of cases)
- Thickened skinHPOHP:0001072
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Abnormal scrotum morphologyHPOHP:0000045
- Occasional (5% to 29% of cases)
- Abnormality of the faceHPOHP:0000271
- Occasional (5% to 29% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
Show the remaining 18
- Generalized hirsutismHPOHP:0002230
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- Inguinal herniaHPOHP:0000023
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Localized neuroblastomaHPOHP:0006768
- Occasional (5% to 29% of cases)
Genes
2 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
5 names
Resolves to: multiple benign circumferential skin creases on limbs
- Also called
- CCSFcircumferential skin creases, Kunze typecongenital circumferential skin foldsCSCSCKunze-Riehm syndrome