Fontaine progeroid syndrome
Findings
No curated finding names Fontaine progeroid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
Definition from the Mondo Disease Ontology (MONDO:0012853), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
83 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.
- Aplastic/hypoplastic lacrimal glandsHPOHP:0008038
- 5 of 5 reported patients · Female
- BrachycephalyHPOHP:0000248
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- 5 of 5 reported patients · Fetal onset
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- 4 of 4 reported patients
- Coronal craniosynostosisHPOHP:0004440
- 4 of 4 reported patients
- Very frequent (80% to 99% 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.
- SLC25A24HGNC:20662
- Definitive · G2P · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SLC25A4HGNC:10990
- Strong · G2P · Autosomal dominant · 2018
Where it sits
Other names
16 names
Resolves to: Fontaine progeroid syndrome
- Also called
- craniofacial dysostosis-genital, dental, cardiac anomalies syndromecraniofacial dysostosis, hypertrichosis, hypoplasia of labia majoracraniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligencecranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndromedental and eye anomalies-patent ductus arteriosus-normal intelligence syndromedental and eye anomalies, patent ductus arteriosus, and normal intelligenceFPSGCM syndromeGCMSGorlin Chaudhry Moss syndromeGorlin-Chaudhry-Moss SyndromePetty syndromePetty-Laxova-Wiedemann syndromeprogeroid syndrome congenital Petty type