Distal duplication 6p syndrome
ORPHA:1745Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)33
Очень частый (80–99%)17
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000307Pointed chin
HP:0000347Micrognathia
HP:0000426Prominent nasal bridge
HP:0000470Short neck
HP:0000499Abnormal eyelash morphology
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000958Dry skin
HP:0000960Sacral dimple
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0002213Fine hair
HP:0002916Abnormality of chromosome segregation
HP:0004322Short stature
HP:0011362Abnormal hair quantity
Частый (30–79%)7
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0002007Frontal bossing
HP:0009896Abnormality of the antitragus
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0100818Long thorax
Периодический (5–29%)9
HP:0000079Abnormality of the urinary system
HP:0000089Renal hypoplasia
HP:0000126Hydronephrosis
HP:0000518Cataract
HP:0002101Abnormal lung lobation
HP:0006610Wide intermamillary distance
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0030680Abnormal cardiovascular system morphology
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)