Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ORPHA:1071Malformation syndromeAutosomal dominantNeonatal
Фенотипы (HPO)31
Очень частый (80–99%)11
HP:0000405Conductive hearing impairment
HP:0000431Wide nasal bridge
HP:0000966Hypohidrosis
HP:0001795Hyperconvex nail
HP:0001810Dystrophic toenail
HP:0001812Hyperconvex fingernails
HP:0002208Coarse hair
HP:0008070Sparse hair
HP:0008391Dystrophic fingernails
HP:0009755Ankyloblepharon
HP:0100335Non-midline cleft of the upper lip
Частый (30–79%)12
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000347Micrognathia
HP:0000653Sparse eyelashes
HP:0000668Hypodontia
HP:0000682Abnormality of dental enamel
HP:0000687Widely spaced teeth
HP:0000698Conical tooth
HP:0000982Palmoplantar keratoderma
HP:0007440Generalized hyperpigmentation
HP:0011819Submucous cleft soft palate
HP:0045075Sparse eyebrow
Периодический (5–29%)8
HP:0000411Protruding ear
HP:0000684Delayed eruption of teeth
HP:0001092Absent lacrimal punctum
HP:0001608Abnormality of the voice
HP:0001629Ventricular septal defect
HP:0002558Supernumerary nipple
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)