Dysmorphism-short stature-deafness-difference of sex development syndrome
ORPHA:2282Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)30
Частый (30–79%)20
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0001290Generalized hypotonia
HP:0001511Intrauterine growth retardation
HP:0001643Patent ductus arteriosus
HP:0002092Pulmonary arterial hypertension
HP:0002205Recurrent respiratory infections
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0004322Short stature
HP:0006801Hyperactive deep tendon reflexes
HP:0008551Microtia
HP:0010864Intellectual disability, severe
HP:0011968Feeding difficulties
HP:0012418Hypoxemia
Периодический (5–29%)10
HP:0000028Cryptorchidism
HP:0000037Male pseudohermaphroditism
HP:0000047Hypospadias
HP:0000049Shawl scrotum
HP:0000054Micropenis
HP:0000185Cleft soft palate
HP:0000470Short neck
HP:0000508Ptosis
HP:0000924Abnormality of the skeletal system
HP:0011819Submucous cleft soft palate
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)