Fontaine progeroid syndrome |
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Prevalence (%) of clinical parameters based on data from 4 references describing 14 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Persistent ductus arteriosus | circulatory | 100 % | 13851313 | 2022-11-10 | |
| Brachydactyly | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Brachydactyly | skeletal | 100 % | 2309786 | 2022-11-10 | |
| Cryptorchidism | reproductive | 100 % | 29100094 | 2022-11-10 | |
| Eye abnormalities | nervous | 100 % | 29100094 | 2022-11-10 | |
| Decreased subcutaneous fat | integumentary | 100 % | 29100094 | 2022-11-10 | |
| Nail dystrophy | integumentary | 100 % | 29100094 | 2022-11-10 | |
| Skin wrinkles | integumentary | 100 % | 29100094 | 2022-11-10 | |
| Alopecia | integumentary | 100 % | 29100094 | 2022-11-10 | |
| Short stature | multi | 100 % | 29100094 | 2022-11-10 | |
| Intrauterine growth retardation | multi | 100 % | 29100094 | 2022-11-10 | |
| Wide anterior fontanel | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Craniosynostosis | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Hypoplastic labia majores | reproductive | 100 % | 29100093 | 2022-11-10 | |
| Hypertrichosis | integumentary | 100 % | 29100093 | 2022-11-10 | |
| Failure to thrive | multi | 100 % | 29100093 | 2022-11-10 | |
| Prognathia | skeletal | 100 % | 29100093 | 2022-11-10 | |
| Bossed forehead | skeletal | 100 % | 29100093 | 2022-11-10 | |
| Hypotonia | nervous | 100 % | 29100093 | 2022-11-10 | |
| Tongue protrusion | digestive | 100 % | 29100093 | 2022-11-10 | |
| Depressed supraorbital ridges | skeletal | 100 % | 29100093 | 2022-11-10 | |
| Brachycephaly | skeletal | 100 % | 29100093 | 2022-11-10 | |
| Thick hair | integumentary | 100 % | 29100093 | 2022-11-10 | |
| Low anterior hairline | integumentary | 100 % | 29100093 | 2022-11-10 | |
| Hyperopia | nervous | 100 % | 29100093 | 2022-11-10 | |
| Downward sloping palpebral apertures | skeletal | 100 % | 29100093 | 2022-11-10 | |
| Midfacial hypoplasia | skeletal | 100 % | 29100093 | 2022-11-10 | |
| Microphthalmia | nervous | 100 % | 29100093 | 2022-11-10 | |
| Micrognathia | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Triangular face | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Prominent veins | integumentary | 100 % | 29100094 | 2022-11-10 | |
| Convex nasal bridge | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Low set ears | skeletal | 100 % | 29100094 | 2022-11-10 | |
| Death in the first months of life | multi | 100 % | 29100094 | 2022-11-10 | |
| Dental abnormalities | skeletal | 80 % | 29100093 | 2022-11-10 | |
| Decreased subcutaneous fat | integumentary | 80 % | 29100093 | 2022-11-10 | |
| Nail dystrophy | integumentary | 80 % | 29100093 | 2022-11-10 | |
| Skin atrophy | integumentary | 80 % | 29100093 | 2022-11-10 | |
| Hypodontia | skeletal | 80 % | 29100093 | 2022-11-10 | |
| Short stature | multi | 80 % | 29100093 | 2022-11-10 | |
| Low set ears | integumentary | 80 % | 29100093 | 2022-11-10 | |
| Hernia | skeletal | 75 % | 29100094 | 2022-11-10 | |
| Skull ossification defect | skeletal | 66 % | 29100094 | 2022-11-10 | |
| Wide anterior fontanel | skeletal | 60 % | 29100093 | 2022-11-10 | |
| Microcephaly | skeletal | 60 % | 29100093 | 2022-11-10 | |
| Craniosynostosis | skeletal | 60 % | 29100093 | 2022-11-10 | |
| Conductive hearing loss | skeletal | 60 % | 29100093 | 2022-11-10 | |
| Pulmonary hypertension | circulatory | 40 % | 29100094 | 2022-11-10 | |
| Entropion | integumentary | 20 % | 29100093 | 2022-11-10 |
List of references:
Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?
R J GORLIN, A P CHAUDHRY, M L MOSS,
The Journal of pediatrics - Jun 1960
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Karin Writzl, Ales Maver, Lidija Kovačič, Paula Martinez-Valero, Laura Contreras, Jorgina Satrustegui, Marco Castori, Laurence Faivre, Pablo Lapunzina, André B P van Kuilenburg, Slobodanka Radović, Christel Thauvin-Robinet, Borut Peterlin, Araceli Del Arco, Raoul C Hennekam,
American journal of human genetics - Nov 2017
Previously unrecognized congenital progeroid disorder.
E M Petty, R Laxova, H R Wiedemann,
American journal of medical genetics - Mar 1990
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A Bacino, Penelope E Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak,
American journal of human genetics - Nov 2017