Yunis-Varon syndrome
Findings
No curated finding names Yunis-Varon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0008995), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
147 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.
- Absent thumbHPOHP:0009777
- 12 of 12 reported patients
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the halluxHPOHP:0008362
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Delayed ossification of pubic ramiHPOHP:0008785
- 1 of 1 reported patient
- Epicanthus
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.
Where it sits
- A kind of
Other names
4 names
Resolves to: Yunis-Varon syndrome
- Also called
- cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangiacleidocranial dysplasia-micrognathia-absent thumbs syndromeYunis Varon SyndromeYunis-Varón syndrome