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A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
Features include always present findings: Seizure, Myopathy, Distal muscle weakness, and Cataract and others; and very common findings: Feeding difficulties and Growth delay. 58 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 9 | Seizure, Spinal rigidity, Intellectual disability |
MYMK encodes myomaker, myoblast fusion factor (221 aa). Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Highest expression in Nerve Tibial (1.6 TPM) and Testis (0.4 TPM).
Carey-Fineman-Ziter syndrome 1 is associated with mutations in the MYMK gene on chromosome 9.
MYMK is classified as a druggable target (Transporter category) with score 0.0.
Genetic testing for MYMK is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Carey-Fineman-Ziter syndrome 1 has been reported in the published literature.
Phenotype severity distribution: 20 always present features, 2 very common features, 6 common features.
No clinical trials have been registered for Carey-Fineman-Ziter syndrome 1.
131 publications have been identified in PubMed for Carey-Fineman-Ziter syndrome 1. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (11%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 80 | 61% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
Online Mendelian Inheritance in Man
Common questions about Carey-Fineman-Ziter syndrome 1
Muscles
9 |
Myopathy, Flexion contracture, Severe muscular hypotonia |
Head and neck | 6 | Microcephaly, Cleft palate, Facial palsy |
Eyes | 4 | Cataract, Oculomotor nerve palsy, Ptosis |
Digestive system | 3 | Gastroesophageal reflux, Feeding difficulties, Difficulty swallowing (dysphagia) |
Bones and joints | 2 | Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis) |
Heart and blood vessels | 2 | Abnormal cardiac septum morphology, High blood pressure in lung arteries (pulmonary arterial hypertension) |
Growth and development | 2 | Failure to thrive, Growth delay |
Lungs and breathing | 2 | High blood pressure in lung arteries (pulmonary arterial hypertension), Difficulty breathing (respiratory insufficiency) |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Arms and legs | 1 | Tapered finger |
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
Pregnancy and birth | 1 | Decreased fetal movement |
Laboratory research
21 |
16% |
Disease patterns and progression | 15 | 11% |
Patient case studies | 7 | 5% |
Testing and diagnosis research | 6 | 5% |
Clinical study results | 2 | 2% |
Zhang Z (2026). [PMID: 40317819](https://pubmed.ncbi.nlm.nih.gov/40317819/). *Dev Dyn*. [Basic Science / Preclinical]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology*. [Review / Meta-Analysis]
Zhang H (2026). [PMID: 41540007](https://pubmed.ncbi.nlm.nih.gov/41540007/). *Nature communications*. [Basic Science / Preclinical]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *American journal of human genetics*. [Basic Science / Preclinical]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Sebode M (2026). [PMID: 41432137](https://pubmed.ncbi.nlm.nih.gov/41432137/). *Current opinion in gastroenterology*. [Review / Meta-Analysis]
Yacoub MR (2025). [PMID: 40747632](https://pubmed.ncbi.nlm.nih.gov/40747632/). *Current opinion in allergy and clinical immunology*. [Review / Meta-Analysis]
Borojeni S (2025). [PMID: 40546148](https://pubmed.ncbi.nlm.nih.gov/40546148/). *La Revue du praticien*. [Review / Meta-Analysis]