Ablepharon macrostomia syndrome
ORPHA:920Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)11
HP:0000154Wide mouth
HP:0000430Underdeveloped nasal alae
HP:0000561Absent eyelashes
HP:0000750Delayed speech and language development
HP:0001582Redundant skin
HP:0002213Fine hair
HP:0002223Absent eyebrow
HP:0008070Sparse hair
HP:0008551Microtia
HP:0010669Hypoplasia of the zygomatic bone
HP:0011224Ablepharon
Частый (30–79%)19
HP:0000055Abnormality of female external genitalia
HP:0000062Ambiguous genitalia
HP:0000327Hypoplasia of the maxilla
HP:0000365Hearing impairment
HP:0000463Anteverted nares
HP:0000505Visual impairment
HP:0000545Myopia
HP:0000691Microdontia
HP:0000958Dry skin
HP:0000963Thin skin
HP:0001126Cryptophthalmos
HP:0001263Global developmental delay
HP:0001537Umbilical hernia
HP:0003187Breast hypoplasia
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0007392Excessive wrinkled skin
HP:0007957Corneal opacity
HP:0008736Hypoplasia of penis
HP:0100490Camptodactyly of finger
Периодический (5–29%)9
HP:0000233Thin vermilion border
HP:0000413Atresia of the external auditory canal
HP:0001000Abnormality of skin pigmentation
HP:0001510Growth delay
HP:0001539Omphalocele
HP:0001770Toe syndactyly
HP:0005280Depressed nasal bridge
HP:0010720Abnormal hair pattern
HP:0200020Corneal erosion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 21 | 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)