multiple benign circumferential skin creases on limbs 1
MONDO:0020738Mondo
Findings
No curated finding names multiple benign circumferential skin creases on limbs 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Circumferential skin creases on extremitiesHPOHP:0034400
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Narrow mouthHPOHP:0000160
- 3 of 3 reported patients
- Short palpebral fissureHPOHP:0012745
- 3 of 3 reported patients
- Cleft palateHPOHP:0000175
- 2 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 3 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 2 of 3 reported patients
- BlepharophimosisHPOHP:0000581
- 1 of 3 reported patients
Show the remaining 11
- BrachycephalyHPOHP:0000248
- 1 of 3 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 3 reported patients
- Flat faceHPOHP:0012368
- 1 of 3 reported patients
- High palateHPOHP:0000218
- 1 of 3 reported patients
- HypertelorismHPOHP:0000316
- 1 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 3 reported patients
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.
- TUBBHGNC:20778
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: multiple benign circumferential skin creases on limbs 1
- Also called
- symmetric circumferential skin creases, congenital, 1