Cenani-Lenz syndactyly syndrome
Findings
No curated finding names Cenani-Lenz syndactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
Definition from the Mondo Disease Ontology (MONDO:0008931), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- AnonychiaHPOHP:0001798
- 11 of 12 reported patients
- Metacarpal synostosisHPOHP:0009701
- 11 of 12 reported patients
- SyndactylyHPOHP:0001159
- 11 of 12 reported patients
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Absent fingernailHPOHP:0001817
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Frontal bossingHPO
Show the remaining 44
- Absent toenailHPOHP:0001802
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 12 reported patients
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 7 of 12 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- 7 of 12 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- 7 of 12 reported patients
- Frequent (30% to 79% of cases)
- Short thumbHPO
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.
- LRP4HGNC:6696
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- APCHGNC:583
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Cenani-Lenz syndactyly syndrome
- Also called
- Cenani syndactylyCenani-Lenz syndactylysyndactyly type 7