Ossification anomalies-psychomotor developmental delay syndrome
ORPHA:73230DiseaseInfancy, Neonatal
Фенотипы (HPO)36
Частый (30–79%)14
HP:0000774Narrow chest
HP:0000940Abnormal diaphysis morphology
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0002240Hepatomegaly
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003016Metaphyseal widening
HP:0006462Generalized bone demineralization
HP:0011849Abnormal bone ossification
HP:0100774Hyperostosis
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000520Proptosis
Периодический (5–29%)22
HP:0000586Shallow orbits
HP:0000765Abnormal thorax morphology
HP:0000883Thin ribs
HP:0001344Absent speech
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002100Recurrent aspiration pneumonia
HP:0002119Ventriculomegaly
HP:0002194Delayed gross motor development
HP:0003100Slender long bone
HP:0003199Decreased muscle mass
HP:0003244Penile hypospadias
HP:0003312Abnormal form of the vertebral bodies
HP:0008897Postnatal growth retardation
HP:0009237Short 5th finger
HP:0009875Triangular shaped distal phalanges of the hand
HP:0009882Short distal phalanx of finger
HP:0031207Hepatic hemangioma
HP:0100759Clubbing of fingers
HP:0000239Large fontanelles
HP:0000325Triangular face
HP:0000463Anteverted nares
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)