Freeman-Sheldon syndrome
ORPHA:2053Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)31
Очень частый (80–99%)16
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000316Hypertelorism
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0001387Joint stiffness
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001762Talipes equinovarus
HP:0002650Scoliosis
HP:0008872Feeding difficulties in infancy
HP:0009465Ulnar deviation of finger
HP:0010751Chin dimple
HP:0100490Camptodactyly of finger
Частый (30–79%)11
HP:0000028Cryptorchidism
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000508Ptosis
HP:0001557Prenatal movement abnormality
HP:0001611Hypernasal speech
HP:0002047Malignant hyperthermia
HP:0002167Abnormality of speech or vocalization
HP:0004322Short stature
Периодический (5–29%)4
HP:0001561Polyhydramnios
HP:0001562Oligohydramnios
HP:0010489Absent palmar crease
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 100 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)