Temple syndrome
ORPHA:254516Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0000826Precocious puberty
HP:0001270Motor delay
HP:0001518Small for gestational age
HP:0001773Short foot
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0200055Small hand
Частый (30–79%)9
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001513Obesity
HP:0001622Premature birth
HP:0004322Short stature
HP:0004482Relative macrocephaly
HP:0008872Feeding difficulties in infancy
HP:0011968Feeding difficulties
HP:0040288Nasogastric tube feeding
Периодический (5–29%)4
HP:0000028Cryptorchidism
HP:0002591Polyphagia
HP:0002650Scoliosis
HP:0005978Type II diabetes mellitus
Очень редкий (1–4%)8
HP:0000193Bifid uvula
HP:0000238Hydrocephalus
HP:0000307Pointed chin
HP:0000824Decreased response to growth hormone stimulation test
HP:0001988Recurrent hypoglycemia
HP:0002007Frontal bossing
HP:0004209Clinodactyly of the 5th finger
HP:0007429Few cafe-au-lait spots
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 53 | 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)