Neu-Laxova syndrome
ORPHA:2671Malformation syndromeAutosomal recessiveAntenatal
Фенотипы (HPO)63
Очень частый (80–99%)7
HP:0000252Microcephaly
HP:0000340Sloping forehead
HP:0001511Intrauterine growth retardation
HP:0008064Ichthyosis
HP:0012471Thick vermilion border
HP:0012639Abnormal nervous system morphology
HP:0100679Lack of skin elasticity
Частый (30–79%)32
HP:0001302Pachygyria
HP:0000062Ambiguous genitalia
HP:0000135Hypogonadism
HP:0000153Abnormality of the mouth
HP:0000211Trismus
HP:0000232Everted lower lip vermilion
HP:0000288Abnormality of the philtrum
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000457Depressed nasal ridge
HP:0000520Proptosis
HP:0000951Abnormality of the skin
HP:0001176Large hands
HP:0001302Pachygyria
HP:0001305Dandy-Walker malformation
HP:0001321Cerebellar hypoplasia
HP:0001331Absent septum pellucidum
HP:0001339Lissencephaly
HP:0001371Flexion contracture
HP:0001460Aplasia/Hypoplasia involving the skeletal musculature
HP:0001558Decreased fetal movement
HP:0001561Polyhydramnios
HP:0001769Broad foot
HP:0002126Polymicrogyria
HP:0002179Opisthotonus
HP:0002269Abnormality of neuronal migration
HP:0002334Abnormality of the cerebellar vermis
HP:0002536Abnormal cortical gyration
HP:0003202Skeletal muscle atrophy
HP:0003241External genital hypoplasia
HP:0003394Muscle spasm
HP:0003560Muscular dystrophy
Периодический (5–29%)24
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000269Prominent occiput
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000492Abnormal eyelid morphology
HP:0000499Abnormal eyelash morphology
HP:0000518Cataract
HP:0000614Abnormal nasolacrimal system morphology
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001059Pterygium
HP:0001595Abnormality of the hair
HP:0002089Pulmonary hypoplasia
HP:0002119Ventriculomegaly
HP:0002414Spina bifida
HP:0002514Cerebral calcification
HP:0002650Scoliosis
HP:0002748Rickets
HP:0002749Osteomalacia
HP:0002804Arthrogryposis multiplex congenita
HP:0002983Micromelia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 91 | 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)