Mesomelia-synostoses syndrome
ORPHA:2496Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Фенотипы (HPO)41
Очень частый (80–99%)24
HP:0031095Abnormal humerus morphology
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0001155Abnormality of the hand
HP:0001156Brachydactyly
HP:0001387Joint stiffness
HP:0001440Metatarsal synostosis
HP:0001760Abnormal foot morphology
HP:0001773Short foot
HP:0002652Skeletal dysplasia
HP:0002705High, narrow palate
HP:0002983Micromelia
HP:0002992Abnormality of tibia morphology
HP:0003019Abnormality of the wrist
HP:0003027Mesomelia
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0005048Synostosis of carpal bones
HP:0005916Abnormal metacarpal morphology
HP:0009465Ulnar deviation of finger
HP:0010293Aplasia/Hypoplasia of the uvula
HP:0100240Synostosis of joints
Частый (30–79%)1
HP:0002823Abnormality of femur morphology
Периодический (5–29%)16
HP:0000126Hydronephrosis
HP:0000160Narrow mouth
HP:0000190Abnormal oral frenulum morphology
HP:0000272Malar flattening
HP:0000325Triangular face
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000414Bulbous nose
HP:0000444Convex nasal ridge
HP:0000534Abnormal eyebrow morphology
HP:0000545Myopia
HP:0001537Umbilical hernia
HP:0002815Abnormality of the knee
HP:0002857Genu valgum
HP:0003028Abnormality of the ankles
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)