Carey-Fineman-Ziter syndrome 1
Findings
No curated finding names Carey-Fineman-Ziter syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0800437), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
32 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.
- Anteverted naresHPOHP:0000463
- 8 of 8 reported patients
- Bowel irritabilityHPOHP:0033628
- 1 of 1 reported patient
- Broad nasal tipHPOHP:0000455
- 9 of 9 reported patients
- CataractHPOHP:0000518
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients · Male
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
Show the remaining 20
- Motor delayHPOHP:0001270
- 8 of 8 reported patients
- MyopathyHPOHP:0003198
- 4 of 4 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 8 of 8 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
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.
- MYMKHGNC:33778
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Carey-Fineman-Ziter syndrome 1
- Also called
- CFZS1myopathy-Moebius-Robin syndromemyopathy, congenital nonprogressive, with Moebius sequence and Robin sequence