Carey-Fineman-Ziter syndrome
MONDO:0031415Mondo
Findings
No curated finding names Carey-Fineman-Ziter syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
36 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
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the tongueHPOHP:0010295
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Facial palsyHPOHP:0010628
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Impaired ocular abductionHPOHP:0000634
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Pierre-Robin sequenceHPOHP:0000201
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
Show the remaining 24
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Frequent (30% to 79% of cases)
- GlossoptosisHPOHP:0000162
- Frequent (30% to 79% of cases)
Genes
2 genes
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
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Illumina · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:52391HGNC:52391
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)