Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
ORPHA:2570Malformation syndromeX-linked recessiveAntenatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)6
HP:0000252Microcephaly
HP:0001360Holoprosencephaly
HP:0001376Limitation of joint mobility
HP:0001558Decreased fetal movement
HP:0002828Multiple joint contractures
HP:0006703Aplasia/Hypoplasia of the lungs
Частый (30–79%)5
HP:0000340Sloping forehead
HP:0000369Low-set ears
HP:0000470Short neck
HP:0100490Camptodactyly of finger
HP:0100625Enlarged thorax
Периодический (5–29%)13
HP:0000347Micrognathia
HP:0000490Deeply set eye
HP:0000581Blepharophimosis
HP:0001181Adducted thumb
HP:0001511Intrauterine growth retardation
HP:0002103Abnormality of the pleura
HP:0002120Cerebral cortical atrophy
HP:0002324Hydranencephaly
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007477Abnormal dermatoglyphics
HP:0008678Renal hypoplasia/aplasia
HP:0010662Abnormality of the diencephalon
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)