Distal limb deficiencies-micrognathia syndrome
ORPHA:1307Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)30
Очень частый (80–99%)7
HP:0000358Posteriorly rotated ears
HP:0000308Microretrognathia
HP:0000327Hypoplasia of the maxilla
HP:0002916Abnormality of chromosome segregation
HP:0003028Abnormality of the ankles
HP:0005916Abnormal metacarpal morphology
HP:0012165Oligodactyly
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000083Renal insufficiency
HP:0000089Renal hypoplasia
HP:0000093Proteinuria
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000405Conductive hearing impairment
HP:0000545Myopia
HP:0002342Intellectual disability, moderate
HP:0003019Abnormality of the wrist
HP:0006501Aplasia/Hypoplasia of the radius
HP:0009601Aplasia/Hypoplasia of the thumb
Периодический (5–29%)11
HP:0000171Microglossia
HP:0000175Cleft palate
HP:0000256Macrocephaly
HP:0000407Sensorineural hearing impairment
HP:0000426Prominent nasal bridge
HP:0000639Nystagmus
HP:0000691Microdontia
HP:0001839Split foot
HP:0004322Short stature
HP:0008368Tarsal synostosis
HP:0040071Abnormal morphology of ulna
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)