cardiospondylocarpofacial syndrome
Findings
No curated finding names cardiospondylocarpofacial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
Definition from the Mondo Disease Ontology (MONDO:0008005), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
58 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.
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 5 of 5 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Decreased testicular size
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.
- MAP3K7HGNC:6859
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: cardiospondylocarpofacial syndrome
- Also called
- Forney syndromeForney-Robinson-Pascoe syndromemitral regurgitation-deafness-skeletal anomalies syndrome