Details of Disease

Disease Name

Fontaine progeroid syndrome

Petty Laxova Wiedemann syndrome; craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies; progeroid syndrome, congenital, Petty type; craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; Petty-Laxova-Wiedemann syndrome; Gorlin-Chaudhry-Moss Syndrome; progeroid syndrome congenital Petty type; craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora; GCMS; GCM syndrome; Gorlin-Chaudhry-Moss syndrome; Petty syndrome; dental and eye anomalies, patent ductus arteriosus, and normal intelligence; progeroid syndrome Petty type; Fontaine progeroid syndrome; Gorlin Chaudhry Moss syndrome; dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome; craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence; FPS; progeroid syndrome, Petty type; cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

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.

Disease Hierarchy

DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability

DISLRS4M: Ectodermal dysplasia

DISJWGDF: Fontaine progeroid syndrome

Disease Identifiers

MONDO ID

MONDO_0012853

MESH ID

C567360

UMLS CUI

C2676780

OMIM ID

612289

MedGen ID

394125

Orphanet ID

2095

SNOMED CT ID

205800003

General Information of Disease (ID: DISJWGDF)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	TTU5A6Q	moderate	Biomarker	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A24	DTVAEDK	Strong	Autosomal dominant	[2]
SLC25A24	DTVAEDK	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A24	OT3ZNGEL	Strong	Autosomal dominant	[2]
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References

1	A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.Am J Med Genet A. 2018 Nov;176(11):2479-2486. doi: 10.1002/ajmg.a.40496. Epub 2018 Oct 17.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3	A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.BMC Med Genet. 2019 Nov 27;20(1):188. doi: 10.1186/s12881-019-0921-9.