Rothmund-Thomson syndrome
ORPHA:2909DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)56
Очень частый (80–99%)3
HP:0000988Skin rash
HP:0001029Poikiloderma
HP:0025300Malar rash
Частый (30–79%)13
HP:0000164Abnormality of the dentition
HP:0000653Sparse eyelashes
HP:0000789Infertility
HP:0000924Abnormality of the skeletal system
HP:0001518Small for gestational age
HP:0004322Short stature
HP:0004349Reduced bone mineral density
HP:0007556Plantar hyperkeratosis
HP:0007588Reticular hyperpigmentation
HP:0008066Abnormal blistering of the skin
HP:0008070Sparse hair
HP:0010765Palmar hyperkeratosis
HP:0045075Sparse eyebrow
Периодический (5–29%)28
HP:0000282Facial edema
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000685Hypoplasia of teeth
HP:0000691Microdontia
HP:0000938Osteopenia
HP:0001010Hypopigmentation of the skin
HP:0001118Juvenile cataract
HP:0001592Selective tooth agenesis
HP:0001597Abnormality of the nail
HP:0001792Small nail
HP:0001871Abnormality of blood and blood-forming tissues
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002164Nail dysplasia
HP:0002659Increased susceptibility to fractures
HP:0003022Hypoplasia of the ulna
HP:0003993Broad ulna
HP:0006498Aplasia/Hypoplasia of the patella
HP:0006501Aplasia/Hypoplasia of the radius
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008069Neoplasm of the skin
HP:0009778Short thumb
HP:0011069Supernumerary tooth
HP:0031367Metaphyseal striations
HP:0100585Telangiectasia of the skin
HP:0100671Abnormal trabecular bone morphology
Очень редкий (1–4%)12
HP:0001875Decreased total neutrophil count
HP:0001903Anemia
HP:0001909Leukemia
HP:0001915Aplastic anemia
HP:0002671Basal cell carcinoma
HP:0002860Squamous cell carcinoma
HP:0002861Melanoma
HP:0002863Myelodysplasia
HP:0003761Calcinosis
HP:0007418Alopecia totalis
HP:0011470Nasogastric tube feeding in infancy
HP:0200044Porokeratosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)