Congenital infiltrating lipomatosis of the face
ORPHA:583097DiseaseNeonatal
Фенотипы (HPO)20
Облигатный (100%)1
HP:0000324Facial asymmetry
Частый (30–79%)9
HP:0000158Macroglossia
HP:0000293Full cheeks
HP:0000303Mandibular prognathia
HP:0006288Advanced eruption of teeth
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0011801Enlargement of parotid gland
HP:0012370Prominence of the zygomatic bone
HP:0030812Enlarged tonsils
HP:0430028Hyperplasia of the maxilla
Периодический (5–29%)10
HP:0000995Melanocytic nevus
HP:0001302Pachygyria
HP:0001572Macrodontia
HP:0002360Sleep abnormality
HP:0006349Agenesis of permanent teeth
HP:0007206Hemimegalencephaly
HP:0010535Sleep apnea
HP:0012433Abnormal social behavior
HP:0012478Temporomandibular joint ankylosis
HP:0031023Multiple mucosal neuromas
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 59 | 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)