Lowry-MacLean syndrome
ORPHA:2409Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)52
Частый (30–79%)16
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0011344Severe global developmental delay
HP:0030680Abnormal cardiovascular system morphology
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000444Convex nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000680Delayed eruption of primary teeth
HP:0000776Congenital diaphragmatic hernia
HP:0001087Developmental glaucoma
HP:0001363Craniosynostosis
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0002012Abnormality of the abdominal organs
Периодический (5–29%)35
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000078Abnormality of the genital system
HP:0000237Small anterior fontanelle
HP:0000238Hydrocephalus
HP:0000243Trigonocephaly
HP:0000278Retrognathia
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000453Choanal atresia
HP:0000485Megalocornea
HP:0000572Visual loss
HP:0000577Exotropia
HP:0000592Blue sclerae
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000954Single transverse palmar crease
HP:0001269Hemiparesis
HP:0001680Coarctation of aorta
HP:0002021Pyloric stenosis
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0003194Short nasal bridge
HP:0003196Short nose
HP:0004439Craniofacial dysostosis
HP:0004554Generalized hypertrichosis
HP:0005211Midgut malrotation
HP:0005442Widely patent coronal suture
HP:0006695Atrioventricular canal defect
HP:0007957Corneal opacity
HP:0008689Bilateral cryptorchidism
HP:0011087Talon cusp
HP:0025247Dermoid cyst
HP:0100538Abnormality of the supraorbital ridges
Очень редкий (1–4%)1
HP:0001250Seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)