B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:75496Clinical subtypeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)21
HP:0000028Cryptorchidism
HP:0000230Gingivitis
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000963Thin skin
HP:0000973Cutis laxa
HP:0000974Hyperextensible skin
HP:0001166Arachnodactyly
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0001642Pulmonic stenosis
HP:0001650Aortic valve stenosis
HP:0001763Pes planus
HP:0004322Short stature
HP:0005328Progeroid facial appearance
HP:0007469Palmoplantar cutis gyrata
HP:0009125Lipodystrophy
HP:0010511Long toe
HP:0100813Testicular torsion
Частый (30–79%)13
HP:0000160Narrow mouth
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000653Sparse eyelashes
HP:0000938Osteopenia
HP:0000987Atypical scarring of skin
HP:0001000Abnormality of skin pigmentation
HP:0001075Atrophic scars
HP:0001999Abnormal facial shape
HP:0002209Sparse scalp hair
HP:0002652Skeletal dysplasia
HP:0003202Skeletal muscle atrophy
HP:0045075Sparse eyebrow
Периодический (5–29%)3
HP:0001382Joint hypermobility
HP:0002751Kyphoscoliosis
HP:0006481Abnormality of primary teeth
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 34 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)