Occipital horn syndrome
ORPHA:198DiseaseX-linked recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)70
Очень частый (80–99%)11
HP:0000239Large fontanelles
HP:0000270Delayed cranial suture closure
HP:0000271Abnormality of the face
HP:0000929Abnormal skull morphology
HP:0000974Hyperextensible skin
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002514Cerebral calcification
HP:0100777Exostoses
HP:0001382Joint hypermobility
Частый (30–79%)32
HP:0000343Long philtrum
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000952Jaundice
HP:0000978Bruising susceptibility
HP:0000987Atypical scarring of skin
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001396Cholestasis
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002036Hiatus hernia
HP:0002045Hypothermia
HP:0002578Gastroparesis
HP:0002617Dilatation
HP:0002705High, narrow palate
HP:0002748Rickets
HP:0002749Osteomalacia
HP:0003019Abnormality of the wrist
HP:0004279Short palm
HP:0004408Abnormality of the sense of smell
HP:0005293Venous insufficiency
HP:0010562Keloids
HP:0012115Hepatitis
HP:0025270Abnormal esophagus physiology
HP:0100240Synostosis of joints
HP:0100633Esophagitis
HP:0100699Scarring
Периодический (5–29%)27
HP:0000010Recurrent urinary tract infections
HP:0000015Bladder diverticulum
HP:0000023Inguinal hernia
HP:0000348High forehead
HP:0000494Downslanted palpebral fissures
HP:0000774Narrow chest
HP:0001385Hip dysplasia
HP:0001763Pes planus
HP:0002208Coarse hair
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002797Osteolysis
HP:0002808Kyphosis
HP:0002812Coxa vara
HP:0002827Hip dislocation
HP:0002857Genu valgum
HP:0002991Abnormal fibula morphology
HP:0003172Abnormality of the pubic bone
HP:0003874Humerus varus
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006507Aplasia/hypoplasia of the humerus
HP:0006660Aplastic clavicles
HP:0008818Large iliac wings
HP:0009556Absent tibia
HP:0100541Femoral hernia
HP:0100874Thick hair
HP:0200021Down-sloping shoulders
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 35 | 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)