Metaphyseal dysplasia, Braun-Tinschert type
ORPHA:85188Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)31
Частый (30–79%)28
HP:0002652Skeletal dysplasia
HP:0002753Thin bony cortex
HP:0002834Flared femoral metaphysis
HP:0002982Tibial bowing
HP:0002986Radial bowing
HP:0003022Hypoplasia of the ulna
HP:0003031Ulnar bowing
HP:0003856Upper limb metaphyseal widening
HP:0003871Deformed humerus
HP:0003874Humerus varus
HP:0003985Exostoses of the ulna
HP:0003986Exostoses of the radius
HP:0004026Broad radial metaphysis
HP:0005622Broad long bones
HP:0006387Wide distal femoral metaphysis
HP:0006413Broad tibial metaphyses
HP:0006429Broad femoral neck
HP:0008783Wide proximal femoral metaphysis
HP:0008804Broad femoral head
HP:0010498Bipartite patella
HP:0010502Fibular bowing
HP:0010540Advanced pneumatization of cranial sinuses
HP:0010639Elevated alkaline phosphatase of bone origin
HP:0011001Increased bone mineral density
HP:0032208Increased urinary type 1 collagen N-terminal telopeptide level
HP:0100670Rough bone trabeculation
HP:0100916Sclerosis of middle finger phalanx
HP:0100917Sclerosis of proximal finger phalanx
Периодический (5–29%)3
HP:0000938Osteopenia
HP:0002650Scoliosis
HP:0006323Premature loss of primary teeth
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)