Richieri Costa-Pereira syndrome
ORPHA:3102Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)6
HP:0000308Microretrognathia
HP:0000377Abnormal pinna morphology
HP:0001762Talipes equinovarus
HP:0006355Agenesis of mandibular central incisor
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010109Short hallux
Частый (30–79%)18
HP:0000201Pierre-Robin sequence
HP:0000690Agenesis of maxillary lateral incisor
HP:0001245Small thenar eminence
HP:0001609Hoarse voice
HP:0002643Neonatal respiratory distress
HP:0002984Hypoplasia of the radius
HP:0003038Fibular hypoplasia
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0004987Mesomelic leg shortening
HP:0005011Mesomelic arm shortening
HP:0005736Short tibia
HP:0006536Airway obstruction
HP:0008872Feeding difficulties in infancy
HP:0009237Short 5th finger
HP:0010752Cleft mandible
HP:0012789Hypoplasia of the calcaneus
HP:0200154Agenesis of mandibular lateral incisor
Периодический (5–29%)5
HP:0000193Bifid uvula
HP:0001328Specific learning disability
HP:0008744Abnormal aryepiglottic fold morphology
HP:0010565Aplasia/Hypoplasia of the Epiglottis
HP:0011051Agenesis of premolar
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 33 | 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)