XFE progeroid syndrome
Findings
No curated finding names XFE progeroid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.
Definition from the Mondo Disease Ontology (MONDO:0012590), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in adolescence
HPO, annotations 2026-09-02
Features
34 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.
- Abnormally high-pitched voiceHPOHP:0001620
- 1 of 1 reported patient
- Absence of subcutaneous fatHPOHP:0007485
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- BlindnessHPOHP:0000618
- 1 of 1 reported patient
- CachexiaHPOHP:0004326
- 1 of 1 reported patient
- Convex nasal ridgeHPOHP:0000444
Show the remaining 22
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Enamel hypoplasiaHPOHP:0006297
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 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.
- ERCC4HGNC:3436
- Strong · Ambry Genetics · Autosomal recessive · 2016
Where it sits
- A kind of
Other names
2 names
Resolves to: XFE progeroid syndrome
- Also called
- XFEPSXPF-ERCC1 progeroid syndrome