Nasopalpebral lipoma-coloboma syndrome
ORPHA:2399Malformation syndromeAutosomal dominantNeonatal
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0000506Telecanthus
HP:0000589Coloboma
HP:0001012Multiple lipomas
Частый (30–79%)22
HP:0000499Abnormal eyelash morphology
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000577Exotropia
HP:0002788Recurrent upper respiratory tract infections
HP:0007820Lacrimal punctal atresia
HP:0007957Corneal opacity
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000337Broad forehead
HP:0000349Widow's peak
HP:0000369Low-set ears
HP:0000437Depressed nasal tip
HP:0000445Wide nose
HP:0008850Severe postnatal growth retardation
HP:0009926Epiphora
HP:0030670Hamartoma of the orbital region
HP:0030953Conjunctival hyperemia
HP:0031111Cutaneous hamartoma
HP:0040164Lipomas of upper eyelids
HP:0045075Sparse eyebrow
Периодический (5–29%)4
HP:0000378Cupped ear
HP:0004209Clinodactyly of the 5th finger
HP:0007633Bilateral microphthalmos
HP:3000022Abnormality of cartilage of external ear
Исключён (0%)1
HP:0002011Morphological central nervous system abnormality
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)