Keipert syndrome
ORPHA:2662Malformation syndromeX-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)11
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000407Sensorineural hearing impairment
HP:0000426Prominent nasal bridge
HP:0005280Depressed nasal bridge
HP:0009836Broad distal phalanx of finger
HP:0009882Short distal phalanx of finger
HP:0010059Broad hallux phalanx
HP:0010109Short hallux
HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes
HP:0011304Broad thumb
Частый (30–79%)10
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000327Hypoplasia of the maxilla
HP:0000508Ptosis
HP:0001609Hoarse voice
HP:0002263Exaggerated cupid's bow
HP:0004209Clinodactyly of the 5th finger
HP:0010624Aplastic/hypoplastic toenail
HP:0010804Tented upper lip vermilion
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)3
HP:0000708Atypical behavior
HP:0004322Short stature
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)