Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
ORPHA:477993Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Частый (30–79%)14
HP:0000174Abnormal palate morphology
HP:0000219Thin upper lip vermilion
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000577Exotropia
HP:0000687Widely spaced teeth
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0011078Abnormality of canine
HP:0011220Prominent forehead
HP:0031936Delayed ability to walk
Периодический (5–29%)28
HP:0000028Cryptorchidism
HP:0000041Chordee
HP:0000047Hypospadias
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000592Blue sclerae
HP:0000657Oculomotor apraxia
HP:0000664Synophrys
HP:0000998Hypertrichosis
HP:0001182Tapered finger
HP:0001488Bilateral ptosis
HP:0001655Patent foramen ovale
HP:0001800Hypoplastic toenails
HP:0002079Hypoplasia of the corpus callosum
HP:0002169Clonus
HP:0002209Sparse scalp hair
HP:0002558Supernumerary nipple
HP:0004209Clinodactyly of the 5th finger
HP:0006895Lower limb hypertonia
HP:0009778Short thumb
HP:0009890High anterior hairline
HP:0011832Narrow nasal tip
HP:0012081Enlarged cerebellum
HP:0012430Cerebral white matter hypoplasia
HP:0012448Delayed myelination
HP:0030048Colpocephaly
HP:0045075Sparse eyebrow
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)