Bartsocas-Papas syndrome
ORPHA:1234Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)16
HP:0000050Hypoplastic male external genitalia
HP:0000062Ambiguous genitalia
HP:0000161Median cleft lip
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0001770Toe syndactyly
HP:0001800Hypoplastic toenails
HP:0001883Talipes
HP:0006101Finger syndactyly
HP:0007418Alopecia totalis
HP:0009755Ankyloblepharon
HP:0009756Popliteal pterygium
HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes
HP:0100240Synostosis of joints
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0200102Sparse or absent eyelashes
Частый (30–79%)8
HP:0000160Narrow mouth
HP:0000347Micrognathia
HP:0000430Underdeveloped nasal alae
HP:0000625Eyelid coloboma
HP:0001249Intellectual disability
HP:0003196Short nose
HP:0007957Corneal opacity
HP:0009777Absent thumb
Периодический (5–29%)2
HP:0008678Renal hypoplasia/aplasia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 | Spain | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)