Microcephalic osteodysplastic primordial dwarfism type II
ORPHA:2637Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)18
HP:0000252Microcephaly
HP:0000448Prominent nose
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001511Intrauterine growth retardation
HP:0001611Hypernasal speech
HP:0001620Abnormally high-pitched voice
HP:0002213Fine hair
HP:0002750Delayed skeletal maturation
HP:0002812Coxa vara
HP:0002866Hypoplastic iliac wing
HP:0002983Micromelia
HP:0003275Narrow pelvis bone
HP:0003498Disproportionate short stature
HP:0004209Clinodactyly of the 5th finger
HP:0005930Abnormality of epiphysis morphology
HP:0009804Tooth agenesis
HP:0009906Aplasia/Hypoplasia of the earlobes
Частый (30–79%)15
HP:0000055Abnormality of female external genitalia
HP:0000278Retrognathia
HP:0000293Full cheeks
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000691Microdontia
HP:0000958Dry skin
HP:0001053Hypopigmented skin patches
HP:0001956Truncal obesity
HP:0002650Scoliosis
HP:0007565Multiple cafe-au-lait spots
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0001382Joint hypermobility
Периодический (5–29%)19
HP:0000494Downslanted palpebral fissures
HP:0000826Precocious puberty
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001297Stroke
HP:0001601Laryngomalacia
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001903Anemia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002205Recurrent respiratory infections
HP:0002617Dilatation
HP:0002777Tracheal stenosis
HP:0007018Attention deficit hyperactivity disorder
HP:0045025Narrow palpebral fissure
HP:0100545Arterial stenosis
HP:0100659Abnormality of the cerebral vasculature
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)