Features include always present findings: Long philtrum, Weakness of facial musculature, Hypomimic face, and Dental crowding and others; and common findings: Velopharyngeal insufficiency, Anteverted nares, Failure to thrive, and Abnormal nasal septum morphology and others.

MYMX encodes myomixer, myoblast fusion factor (84 aa). Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Highest expression in Adipose Subcutaneous (8.9 TPM) and Adipose Visceral Omentum (5.8 TPM).

Carey-Fineman-Ziter syndrome 2 is associated with mutations in the MYMX gene on chromosome 6.

MYMX is classified as a druggable target with score 0.0.

Genetic testing for MYMX is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 16 always present features, 9 common features.

No clinical trials have been registered for Carey-Fineman-Ziter syndrome 2.

5 publications have been identified in PubMed for Carey-Fineman-Ziter syndrome 2. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Other (20%).

Recent Publications

• Zhang H (2026). [PMID: 41540007](https://pubmed.ncbi.nlm.nih.gov/41540007/). *Nat Commun*. [Basic Science / Preclinical]

• Rahman F (2025). [PMID: 39668186](https://pubmed.ncbi.nlm.nih.gov/39668186/). *Eur J Hum Genet*. [Case Report / Case Series]

• Dhar S (2025). [PMID: 41321131](https://pubmed.ncbi.nlm.nih.gov/41321131/). *Biol Open*. [Basic Science / Preclinical]

• Almpani K (2025). [PMID: 40611650](https://pubmed.ncbi.nlm.nih.gov/40611650/). *Cleft Palate Craniofac J*. [Other]

• Dugdale HF (2024). [PMID: 38790073](https://pubmed.ncbi.nlm.nih.gov/38790073/). *Acta Neuropathol Commun*. [Case Report / Case Series]