SPECC1L-related hypertelorism syndrome
ORPHA:1519Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)6
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000426Prominent nasal bridge
HP:0000574Thick eyebrow
HP:0002553Highly arched eyebrow
Частый (30–79%)18
HP:0000028Cryptorchidism
HP:0000049Shawl scrotum
HP:0000232Everted lower lip vermilion
HP:0000311Round face
HP:0000349Widow's peak
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0001156Brachydactyly
HP:0001537Umbilical hernia
HP:0001831Short toe
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004467Preauricular pit
HP:0006101Finger syndactyly
HP:0011039Abnormality of the helix
HP:0011220Prominent forehead
Периодический (5–29%)15
HP:0000086Ectopic kidney
HP:0000202Orofacial cleft
HP:0000248Brachycephaly
HP:0000486Strabismus
HP:0000520Proptosis
HP:0000767Pectus excavatum
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0006288Advanced eruption of teeth
HP:0010458Female pseudohermaphroditism
HP:0010751Chin dimple
HP:0011675Arrhythmia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)