Brachytelephalangic chondrodysplasia punctata
ORPHA:79345Malformation syndromeX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)56
Очень частый (80–99%)4
HP:0000327Hypoplasia of the maxilla
HP:0003196Short nose
HP:0009882Short distal phalanx of finger
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)11
HP:0000410Mixed hearing impairment
HP:0000455Broad nasal tip
HP:0000457Depressed nasal ridge
HP:0000925Abnormality of the vertebral column
HP:0001857Short distal phalanx of toe
HP:0002000Short columella
HP:0003508Proportionate short stature
HP:0008420Punctate vertebral calcifications
HP:0008897Postnatal growth retardation
HP:0010655Epiphyseal stippling
HP:0010666Hypoplasia of the anterior nasal spine
Периодический (5–29%)31
HP:0003316Butterfly vertebrae
HP:0003320C1-C2 subluxation
HP:0003416Spinal canal stenosis
HP:0003417Coronal cleft vertebrae
HP:0003467Atlantoaxial instability
HP:0004695Calcaneal epiphyseal stippling
HP:0004887Respiratory failure requiring assisted ventilation
HP:0008417Vertebral hypoplasia
HP:0008434Hypoplastic cervical vertebrae
HP:0008445Cervical spinal canal stenosis
HP:0008469Cervical vertebral dysplasia
HP:0008754Laryngeal calcification
HP:0009107Abnormal ossification involving the femoral head and neck
HP:0009928Thick nasal alae
HP:0010171Epiphyseal stippling of toe phalanges
HP:0010255Stippling of the epiphyses of the distal phalanges of the hand
HP:0010646Cervical spine instability
HP:0025426Abnormal bronchus morphology
HP:3000052Abnormality of hyoid bone
HP:0002871Central apnea
HP:0002947Cervical kyphosis
HP:0000919Abnormality of the costochondral junction
HP:0001263Global developmental delay
HP:0001742Nasal congestion
HP:0002099Asthma
HP:0002205Recurrent respiratory infections
HP:0002341Cervical cord compression
HP:0002643Neonatal respiratory distress
HP:0002777Tracheal stenosis
HP:0002787Tracheal calcification
HP:0002789Tachypnea
Очень редкий (1–4%)9
HP:0000518Cataract
HP:0000609Optic nerve hypoplasia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002020Gastroesophageal reflux
HP:0004415Pulmonary artery stenosis
HP:0007766Optic disc hypoplasia
HP:0011968Feeding difficulties
Исключён (0%)1
HP:0010880Increased nuchal translucency
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)