Heart-hand syndrome type 2
ORPHA:1350Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)11
HP:0000889Abnormality of the clavicle
HP:0001156Brachydactyly
HP:0001387Joint stiffness
HP:0002983Micromelia
HP:0003043Abnormality of the shoulder
HP:0006501Aplasia/Hypoplasia of the radius
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0009811Abnormality of the elbow
HP:0011675Arrhythmia
HP:0040071Abnormal morphology of ulna
HP:0031095Abnormal humerus morphology
Частый (30–79%)4
HP:0001161Hand polydactyly
HP:0005916Abnormal metacarpal morphology
HP:0010044Short 4th metacarpal
HP:0010047Short 5th metacarpal
Периодический (5–29%)10
HP:0000028Cryptorchidism
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0001249Intellectual disability
HP:0001555Asymmetry of the thorax
HP:0002162Low posterior hairline
HP:0003019Abnormality of the wrist
HP:0009908Anterior creases of earlobe
HP:0030680Abnormal cardiovascular system morphology
HP:0100556Hemiatrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)