Carpenter syndrome
ORPHA:65759Malformation syndromeAutosomal recessiveAntenatal, Childhood, Neonatal
Ассоциированные гены2
Фенотипы (HPO)40
Облигатный (100%)3
HP:0001156Brachydactyly
HP:0001770Toe syndactyly
HP:0006101Finger syndactyly
Очень частый (80–99%)18
HP:0000028Cryptorchidism
HP:0000098Tall stature
HP:0000256Macrocephaly
HP:0000263Oxycephaly
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000929Abnormal skull morphology
HP:0001159Syndactyly
HP:0001249Intellectual disability
HP:0001357Plagiocephaly
HP:0001363Craniosynostosis
HP:0001513Obesity
HP:0003241External genital hypoplasia
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0005487Prominent metopic ridge
HP:0010442Polydactyly
Частый (30–79%)12
HP:0000262Turricephaly
HP:0000445Wide nose
HP:0000457Depressed nasal ridge
HP:0000481Abnormal cornea morphology
HP:0000486Strabismus
HP:0001162Postaxial hand polydactyly
HP:0001841Preaxial foot polydactyly
HP:0002676Cloverleaf skull
HP:0002857Genu valgum
HP:0011304Broad thumb
HP:0012243Abnormal reproductive system morphology
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)7
HP:0001537Umbilical hernia
HP:0001643Patent ductus arteriosus
HP:0001748Polysplenia
HP:0001762Talipes equinovarus
HP:0002751Kyphoscoliosis
HP:0010044Short 4th metacarpal
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | 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)