Split-foot malformation-mesoaxial polydactyly syndrome
ORPHA:488232Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)13
Очень частый (80–99%)2
HP:0001839Split foot
HP:0008619Bilateral sensorineural hearing impairment
Частый (30–79%)11
HP:0100483Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
HP:0001597Abnormality of the nail
HP:00046924-5 toe syndactyly
HP:00057671-2 toe complete cutaneous syndactyly
HP:0010076Aplasia/Hypoplasia of the distal phalanx of the hallux
HP:0010112Mesoaxial foot polydactyly
HP:0010359Aplasia/Hypoplasia of the phalanges of the 3rd toe
HP:0010371Aplasia/Hypoplasia of the phalanges of the 4th toe
HP:0010383Aplasia/Hypoplasia of the phalanges of the 5th toe
HP:0010413Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
HP:00107111-2 toe syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)