Laurin-Sandrow syndrome
ORPHA:2378Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)9
HP:0001177Preaxial hand polydactyly
HP:0001199Triphalangeal thumb
HP:0001770Toe syndactyly
HP:0001841Preaxial foot polydactyly
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0008368Tarsal synostosis
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010689Mirror image polydactyly
Частый (30–79%)12
HP:0000366Abnormality of the nose
HP:0000430Underdeveloped nasal alae
HP:0000448Prominent nose
HP:0000457Depressed nasal ridge
HP:0001376Limitation of joint mobility
HP:0001883Talipes
HP:0002000Short columella
HP:0003019Abnormality of the wrist
HP:0003974Absent radius
HP:0009556Absent tibia
HP:0010503Fibular duplication
HP:0100524Limb duplication
Периодический (5–29%)7
HP:0000028Cryptorchidism
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0002714Downturned corners of mouth
HP:0007370Aplasia/Hypoplasia of the corpus callosum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)