Pycnodysostosis
ORPHA:763DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)9
HP:0001156Brachydactyly
HP:0002007Frontal bossing
HP:0004474Persistent open anterior fontanelle
HP:0005446Obtuse angle of mandible
HP:0005906Delayed pneumatization of the mastoid process
HP:0008873Disproportionate short-limb short stature
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0011001Increased bone mineral density
HP:0030353Decreased serum insulin-like growth factor 1
Частый (30–79%)20
HP:0000164Abnormality of the dentition
HP:0000270Delayed cranial suture closure
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000444Convex nasal ridge
HP:0000448Prominent nose
HP:0000520Proptosis
HP:0000592Blue sclerae
HP:0000824Decreased response to growth hormone stimulation test
HP:0001511Intrauterine growth retardation
HP:0001597Abnormality of the nail
HP:0001773Short foot
HP:0002659Increased susceptibility to fractures
HP:0002870Obstructive sleep apnea
HP:0005789Generalized osteosclerosis
HP:0008598Mild conductive hearing impairment
HP:0009381Short finger
HP:0011800Midface retrusion
HP:0012532Chronic pain
HP:0200055Small hand
Периодический (5–29%)24
HP:0000218High palate
HP:0000668Hypodontia
HP:0000670Carious teeth
HP:0000680Delayed eruption of primary teeth
HP:0000689Dental malocclusion
HP:0000696Delayed eruption of permanent teeth
HP:0000889Abnormality of the clavicle
HP:0001601Laryngomalacia
HP:0001807Ridged nail
HP:0002164Nail dysplasia
HP:0002645Wormian bones
HP:0002650Scoliosis
HP:0002866Hypoplastic iliac wing
HP:0003027Mesomelia
HP:0003302Spondylolisthesis
HP:0003304Spondylolysis
HP:0006297Enamel hypoplasia
HP:0006335Persistence of primary teeth
HP:0008905Rhizomelia
HP:0010307Stridor
HP:0010884Acromelia
HP:0011342Mild global developmental delay
HP:0025502Overweight
HP:0100559Lower limb asymmetry
Очень редкий (1–4%)13
HP:0000486Strabismus
HP:0000539Abnormality of refraction
HP:0000707Abnormality of the nervous system
HP:0000774Narrow chest
HP:0001433Hepatosplenomegaly
HP:0002308Chiari malformation
HP:0002493Upper motor neuron dysfunction
HP:0002516Increased intracranial pressure
HP:0002808Kyphosis
HP:0003307Hyperlordosis
HP:0004440Coronal craniosynostosis
HP:0007266Cerebral dysmyelination
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)