Auriculocondylar syndrome
ORPHA:137888Malformation syndromeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GNAI3 | G protein subunit alpha i3 | Disease-causing germline mutation(s) in | gene with protein product | 139370 |
| PLCB4 | phospholipase C beta 4 | Disease-causing germline mutation(s) in | gene with protein product | 600810 |
| EDN1 | endothelin 1 | Disease-causing germline mutation(s) in | gene with protein product | 131240 |
Фенотипы (HPO)34
Очень частый (80–99%)3
HP:0000377Abnormal pinna morphology
HP:0007628Mandibular condyle hypoplasia
HP:0009902Cleft helix
Частый (30–79%)21
HP:0000358Posteriorly rotated ears
HP:0000160Narrow mouth
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000183Tongue muscle weakness
HP:0000193Bifid uvula
HP:0000293Full cheeks
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000384Preauricular skin tag
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0002098Respiratory distress
HP:0002870Obstructive sleep apnea
HP:0008772Aplasia/Hypoplasia of the external ear
HP:0009895Abnormality of the crus of the helix
HP:0010754Abnormality of the temporomandibular joint
HP:0025267Snoring
HP:0030022Question mark ear
HP:0100277Periauricular skin pits
Периодический (5–29%)9
HP:0000171Microglossia
HP:0000256Macrocephaly
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0007627Mandibular condyle aplasia
HP:0011802Hamartoma of tongue
HP:0011968Feeding difficulties
Очень редкий (1–4%)1
HP:0030713Vein of Galen aneurysmal malformation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Cases/families | — | 50 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)