Osteopenia-intellectual disability-sparse hair syndrome
ORPHA:2324Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)22
Частый (30–79%)12
HP:0001382Joint hypermobility
HP:0000316Hypertelorism
HP:0000750Delayed speech and language development
HP:0000938Osteopenia
HP:0001290Generalized hypotonia
HP:0002007Frontal bossing
HP:0002194Delayed gross motor development
HP:0002209Sparse scalp hair
HP:0002213Fine hair
HP:0002757Recurrent fractures
HP:0004482Relative macrocephaly
HP:0008897Postnatal growth retardation
Периодический (5–29%)10
HP:0000303Mandibular prognathia
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000592Blue sclerae
HP:0000954Single transverse palmar crease
HP:0001250Seizure
HP:0001757High-frequency sensorineural hearing impairment
HP:0002750Delayed skeletal maturation
HP:00046912-3 toe syndactyly
HP:0011800Midface retrusion
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)