Autosomal recessive faciodigitogenital syndrome
ORPHA:1974Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)34
Очень частый (80–99%)20
HP:0001382Joint hypermobility
HP:0000049Shawl scrotum
HP:0000154Wide mouth
HP:0000218High palate
HP:0000232Everted lower lip vermilion
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0000343Long philtrum
HP:0000358Posteriorly rotated ears
HP:0000463Anteverted nares
HP:0000472Long neck
HP:0000506Telecanthus
HP:0000637Long palpebral fissure
HP:0001156Brachydactyly
HP:0002002Deep philtrum
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0200021Down-sloping shoulders
Частый (30–79%)7
HP:0000248Brachycephaly
HP:0000396Overfolded helix
HP:0000426Prominent nasal bridge
HP:0001773Short foot
HP:0002007Frontal bossing
HP:0004322Short stature
HP:0010807Open bite
Периодический (5–29%)7
HP:0000347Micrognathia
HP:0000349Widow's peak
HP:0000582Upslanted palpebral fissure
HP:0000974Hyperextensible skin
HP:0002208Coarse hair
HP:0005599Hypopigmentation of hair
HP:0011359Dry hair
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | 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)