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