Penttinen syndrome

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Prevalence (%) of clinical parameters based on data from 3 references describing 8 individuals







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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%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Kyphosis skeletal 100 % 23720404 2022-11-09
Tall stature skeletal 100 % 23720404 2022-11-09
Dental malocclusion skeletal 100 % 23720404 2022-11-09
Pterygium integumentary 100 % 23720404 2022-11-09
Delayed dental development skeletal 100 % 23720404 2022-11-09
Delayed dental development skeletal 100 % 26279204 2022-11-09
Acro-osteolysis skeletal 100 % 23720404 2022-11-09
Acro-osteolysis skeletal 100 % 26279204 2022-11-09
Flat occiput skeletal 100 % 23720404 2022-11-09
Clubbed toes skeletal 100 % 23720404 2022-11-09
Keloid integumentary 100 % 23720404 2022-11-09
Proptosis nervous 100 % 23720404 2022-11-09
Maxillary hypoplasia skeletal 100 % 23720404 2022-11-09
Maxillary hypoplasia skeletal 100 % 30573803 2022-11-09
Skull ossification defect skeletal 100 % 23720404 2022-11-09
Clubbed fingers skeletal 100 % 23720404 2022-11-09
Contracture skeletal 100 % 23720404 2022-11-09
Contracture skeletal 100 % 30573803 2022-11-09
Abnormal cornea nervous 100 % 30573803 2022-11-09
Alopecia integumentary 100 % 23720404 2022-11-09
Thin bones skeletal 100 % 26279204 2022-11-09
Zygomatic hypoplasia skeletal 100 % 26279204 2022-11-09
Hypermobile joints skeletal 100 % 26279204 2022-11-09
Hyperkeratinosis integumentary 100 % 26279204 2022-11-09
Convex nasal bridge skeletal 100 % 26279204 2022-11-09
Brachydactyly skeletal 100 % 26279204 2022-11-09
Lipodystrophy multi 100 % 26279204 2022-11-09
Lipodystrophy multi 100 % 30573803 2022-11-09
Shallow orbits skeletal 100 % 26279204 2022-11-09
Shallow orbits skeletal 100 % 30573803 2022-11-09
Skin atrophy integumentary 100 % 26279204 2022-11-09
Skin atrophy integumentary 100 % 30573803 2022-11-09
Prominent veins circulatory 100 % 26279204 2022-11-10
Prominent veins integumentary 100 % 30573803 2022-11-10
Midfacial hypoplasia skeletal 100 % 30573803 2022-11-10
Skin ulceration integumentary 100 % 30573803 2022-11-10
Haemangioma circulatory 100 % 30573803 2022-11-10
Proptosis nervous 100 % 30573803 2022-11-10
Visual impairment nervous 100 % 30573803 2022-11-10
Decreased subcutaneous fat integumentary 100 % 30573803 2022-11-10
Skin pigmentation changes integumentary 100 % 30573803 2022-11-10
Skull ossification defect skeletal 75 % 26279204 2022-11-09
Thin calvarium skeletal 75 % 26279204 2022-11-09
Respiratory failure respiratory 50 % 23720404 2022-11-09
Recurrent infections multi 50 % 23720404 2022-11-09
Weight loss multi 50 % 23720404 2022-11-09
Maxillary hypoplasia skeletal 50 % 26279204 2022-11-09
Micrognathia skeletal 50 % 26279204 2022-11-09
Narrow nose skeletal 50 % 26279204 2022-11-09
Alopecia integumentary 50 % 26279204 2022-11-09
Brachydactyly skeletal 50 % 30573803 2022-11-09
Seizures nervous 50 % 30573803 2022-11-10
Osteolytic lesion skeletal 50 % 30573803 2022-11-10
Hydrocephalus nervous 50 % 30573803 2022-11-10
Cancer multi 50 % 30573803 2022-11-10
Dermal fibrosis integumentary 25 % 26279204 2022-11-09
Microphthalmia nervous 25 % 26279204 2022-11-09
Short stature skeletal 25 % 26279204 2022-11-09
Osteoporosis skeletal 25 % 26279204 2022-11-09
Wormian bones skeletal 25 % 26279204 2022-11-09
Narrow philtrum integumentary 25 % 26279204 2022-11-09
Pseudopodia integumentary 25 % 26279204 2022-11-09
Narrow palate skeletal 25 % 26279204 2022-11-09
Retinal striae nervous 25 % 26279204 2022-11-09
Corneal edema nervous 25 % 26279204 2022-11-09
Delayed closure of anterior fontanel skeletal 25 % 26279204 2022-11-09
Abnormal cornea nervous 25 % 26279204 2022-11-09
Hearing loss skeletal 25 % 26279204 2022-11-09



List of references:


Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.
Flore Zufferey, Smaïl Hadj-Rabia, Annachiara De Sandre-Giovannoli, Jean-Louis Dufier, Bruno Leheup, Cyril Schweitze, Christine Bodemer, Valérie Cormier-Daire, Martine Le Merrer,



American journal of medical genetics. Part A - Jul 2013



A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Jennifer J Johnston, Monica Y Sanchez-Contreras, Kim M Keppler-Noreuil, Julie Sapp, Molly Crenshaw, NiCole A Finch, Valerie Cormier-Daire, Rosa Rademakers, Virginia P Sybert, Leslie G Biesecker,



American journal of human genetics - Sep 2015



A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Cecilie Bredrup, Tomasz Stokowy, Julie McGaughran, Samuel Lee, Dipak Sapkota, Ileana Cristea, Linda Xu, Kåre Steinar Tveit, Gunnar Høvding, Vidar Martin Steen, Eyvind Rødahl, Ove Bruland, Gunnar Houge,



European journal of human genetics : EJHG - Apr 2019