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Fontaine progeroid syndrome
Fontaine 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

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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
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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:







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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








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