Bone dysplasia, lethal Holmgren type
ORPHA:1842Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)39
Очень частый (80–99%)9
HP:0000773Short ribs
HP:0000774Narrow chest
HP:0001824Weight loss
HP:0002093Respiratory insufficiency
HP:0002652Skeletal dysplasia
HP:0002823Abnormality of femur morphology
HP:0002983Micromelia
HP:0008890Severe short-limb dwarfism
HP:0008905Rhizomelia
Частый (30–79%)17
HP:0000348High forehead
HP:0000364Hearing abnormality
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000940Abnormal diaphysis morphology
HP:0001172Abnormal thumb morphology
HP:0001252Hypotonia
HP:0001373Joint dislocation
HP:0001591Bell-shaped thorax
HP:0002007Frontal bossing
HP:0005930Abnormality of epiphysis morphology
HP:0009811Abnormality of the elbow
HP:0012368Flat face
HP:0030680Abnormal cardiovascular system morphology
HP:0100255Metaphyseal dysplasia
HP:0001382Joint hypermobility
Периодический (5–29%)13
HP:0001155Abnormality of the hand
HP:0001508Failure to thrive
HP:0001631Atrial septal defect
HP:0001639Hypertrophic cardiomyopathy
HP:0001643Patent ductus arteriosus
HP:0001883Talipes
HP:0001903Anemia
HP:0002014Diarrhea
HP:0002017Nausea and vomiting
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0005989Redundant neck skin
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)