Restrictive dermopathy
ORPHA:1662DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)58
Облигатный (100%)1
HP:0030053Stiff skin
Очень частый (80–99%)41
HP:0000160Narrow mouth
HP:0000176Submucous cleft hard palate
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000621Entropion
HP:0000883Thin ribs
HP:0000938Osteopenia
HP:0001196Short umbilical cord
HP:0001511Intrauterine growth retardation
HP:0001558Decreased fetal movement
HP:0001622Premature birth
HP:0001643Patent ductus arteriosus
HP:0002089Pulmonary hypoplasia
HP:0002597Abnormality of the vasculature
HP:0002804Arthrogryposis multiplex congenita
HP:0002828Multiple joint contractures
HP:0004331Decreased skull ossification
HP:0004334Dermal atrophy
HP:0004492Widely patent fontanelles and sutures
HP:0005253Increased anterioposterior diameter of thorax
HP:0005267Premature delivery because of cervical insufficiency or membrane fragility
HP:0005595Generalized hyperkeratosis
HP:0006266Small placenta
HP:0006645Thin clavicles
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0007592Aplasia/Hypoplastia of the eccrine sweat glands
HP:0008070Sparse hair
HP:0009924Aplasia/Hypoplasia involving the nose
HP:0010219Structural foot deformity
HP:0010648Dermal translucency
HP:0012478Temporomandibular joint ankylosis
HP:0012745Short palpebral fissure
HP:0025354Abnormal cellular phenotype
HP:0040189Scaling skin
HP:0045075Sparse eyebrow
HP:0200041Skin erosion
HP:0200102Sparse or absent eyelashes
HP:0000962Hyperkeratosis
Периодический (5–29%)16
HP:0000047Hypospadias
HP:0000073Ureteral duplication
HP:0000453Choanal atresia
HP:0000465Webbed neck
HP:0000695Natal tooth
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001651Dextrocardia
HP:0001669Transposition of the great arteries
HP:0001799Short nail
HP:0004388Microcolon
HP:0004970Ascending tubular aorta aneurysm
HP:0005659Thoracic kyphoscoliosis
HP:0006267Large placenta
HP:0008244Congenital adrenal hypoplasia
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)