Geleophysic dysplasia
ORPHA:2623Malformation syndromeAutosomal dominant, Autosomal recessiveChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FBN1 | fibrillin 1 | Disease-causing germline mutation(s) in | gene with protein product | 134797 |
| ADAMTSL2 | ADAMTS like 2 | Disease-causing germline mutation(s) in | gene with protein product | 612277 |
| LTBP3 | latent transforming growth factor beta binding protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 602090 |
Фенотипы (HPO)47
Очень частый (80–99%)1
HP:0004322Short stature
Частый (30–79%)24
HP:0000219Thin upper lip vermilion
HP:0000311Round face
HP:0000343Long philtrum
HP:0000405Conductive hearing impairment
HP:0000463Anteverted nares
HP:0001072Thickened skin
HP:0001156Brachydactyly
HP:0001376Limitation of joint mobility
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0001773Short foot
HP:0002099Asthma
HP:0002750Delayed skeletal maturation
HP:0003026Short long bone
HP:0003196Short nose
HP:0004279Short palm
HP:0004890Elevated pulmonary artery pressure
HP:0006536Airway obstruction
HP:0011428Short fetal femur length
HP:0034281Phalangeal cone-shaped epiphyses
HP:0034350Valvular pulmonary stenosis
HP:0034392Joint contracture
HP:0040261Increased size of nasopharyngeal adenoids
HP:0410018Recurrent ear infections
Периодический (5–29%)20
HP:0000316Hypertelorism
HP:0000483Astigmatism
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0001385Hip dysplasia
HP:0001601Laryngomalacia
HP:0001602Laryngeal stenosis
HP:0001650Aortic valve stenosis
HP:0001653Mitral regurgitation
HP:0001718Mitral stenosis
HP:0002091Restrictive ventilatory defect
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0002777Tracheal stenosis
HP:0002779Tracheomalacia
HP:0002870Obstructive sleep apnea
HP:0006530Abnormal pulmonary interstitial morphology
HP:0006695Atrioventricular canal defect
HP:0012185Constrictive median neuropathy
HP:0030051Tip-toe gait
Очень редкий (1–4%)2
HP:0000501Glaucoma
HP:0000821Hypothyroidism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 27 | 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)