Microbrachycephaly-ptosis-cleft lip syndrome
ORPHA:2511Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)36
Очень частый (80–99%)34
HP:0000239Large fontanelles
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000270Delayed cranial suture closure
HP:0000272Malar flattening
HP:0000275Narrow face
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000364Hearing abnormality
HP:0000446Narrow nasal bridge
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000598Abnormality of the ear
HP:0000601Hypotelorism
HP:0000767Pectus excavatum
HP:0001156Brachydactyly
HP:0001167Abnormality of finger
HP:0001172Abnormal thumb morphology
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002650Scoliosis
HP:0003019Abnormality of the wrist
HP:0003172Abnormality of the pubic bone
HP:0003510Severe short stature
HP:0004279Short palm
HP:0005469Flat occiput
HP:0005916Abnormal metacarpal morphology
HP:0007598Bilateral single transverse palmar creases
HP:0008818Large iliac wings
HP:0009721Shagreen patch
HP:0009891Underdeveloped supraorbital ridges
HP:0010668Abnormal zygomatic bone morphology
HP:0100333Unilateral cleft lip
Частый (30–79%)2
HP:0003307Hyperlordosis
HP:0010579Cone-shaped epiphysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)