Catel-Manzke syndrome
Findings
No curated finding names Catel-Manzke syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.
Definition from the Mondo Disease Ontology (MONDO:0014507), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
45 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.
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Pierre-Robin sequenceHPOHP:0000201
- 7 of 7 reported patients
- Cleft palateHPOHP:0000175
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 5 reported patients
Show the remaining 33
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 3 of 5 reported patients
- Occasional (5% to 29% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
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.
- TGDSHGNC:20324
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: Catel-Manzke syndrome
- Also called
- Catel Manzke Syndromehyperphalangy-clinodactyly of index finger with Pierre Robin syndromeindex finger anomaly-Pierre Robin syndromemicrognathia digital syndromePalatodigital syndrome, Catel-Manzke typePierre Robin sequence-hyperphalangy-clinodactyly syndromePierre Robin syndrome-hyperphalangy-clinodactyly syndrome