Holoprosencephaly-postaxial polydactyly syndrome
ORPHA:2166Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)36
Очень частый (80–99%)5
HP:0000568Microphthalmia
HP:0000601Hypotelorism
HP:0001162Postaxial hand polydactyly
HP:0008736Hypoplasia of penis
HP:0010650Hypoplasia of the premaxilla
Частый (30–79%)18
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000835Adrenal hypoplasia
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001252Hypotonia
HP:0001360Holoprosencephaly
HP:0001671Abnormal cardiac septum morphology
HP:0002023Anal atresia
HP:0002101Abnormal lung lobation
HP:0005990Thyroid hypoplasia
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0030680Abnormal cardiovascular system morphology
HP:0000358Posteriorly rotated ears
Периодический (5–29%)13
HP:0000160Narrow mouth
HP:0000347Micrognathia
HP:0001321Cerebellar hypoplasia
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0001561Polyhydramnios
HP:0001883Talipes
HP:0002084Encephalocele
HP:0002566Intestinal malrotation
HP:0008678Renal hypoplasia/aplasia
HP:0009914Cyclopia
HP:0100542Abnormal localization of kidney
HP:0100596Absent nares
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)