Short stature-brachydactyly-obesity-global developmental delay syndrome
ORPHA:464288Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)10
HP:0000233Thin vermilion border
HP:0000343Long philtrum
HP:0000490Deeply set eye
HP:0000924Abnormality of the skeletal system
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0004689Short fourth metatarsal
HP:0008947Floppy infant
Частый (30–79%)16
HP:0000028Cryptorchidism
HP:0000212Gingival overgrowth
HP:0000316Hypertelorism
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000486Strabismus
HP:0000964Eczematoid dermatitis
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001328Specific learning disability
HP:0001513Obesity
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0012368Flat face
HP:0012443Abnormality of brain morphology
Периодический (5–29%)19
HP:0000076Vesicoureteral reflux
HP:0000089Renal hypoplasia
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000384Preauricular skin tag
HP:0000407Sensorineural hearing impairment
HP:0000589Coloboma
HP:0000592Blue sclerae
HP:0000620Dacryocystitis
HP:0000818Abnormality of the endocrine system
HP:0000852Pseudohypoparathyroidism
HP:0001601Laryngomalacia
HP:0002079Hypoplasia of the corpus callosum
HP:0002342Intellectual disability, moderate
HP:0003065Patellar hypoplasia
HP:0007074Thick corpus callosum
HP:0010535Sleep apnea
HP:0011968Feeding difficulties
HP:0031938Abnormal conus terminalis morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)