Dyssegmental dysplasia, Silverman-Handmaker type
ORPHA:1865DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Частый (30–79%)13
HP:0000470Short neck
HP:0000774Narrow chest
HP:0001376Limitation of joint mobility
HP:0001762Talipes equinovarus
HP:0002879Anisospondyly
HP:0002979Bowing of the legs
HP:0002983Micromelia
HP:0003026Short long bone
HP:0003510Severe short stature
HP:0005268Spontaneous abortion
HP:0009826Limb undergrowth
HP:0012368Flat face
HP:0040064Abnormality of limbs
Периодический (5–29%)28
HP:0000028Cryptorchidism
HP:0000119Abnormality of the genitourinary system
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000519Developmental cataract
HP:0000520Proptosis
HP:0000773Short ribs
HP:0000946Hypoplastic ilia
HP:0001007Hirsutism
HP:0001059Pterygium
HP:0001195Single umbilical artery
HP:0001371Flexion contracture
HP:0001627Abnormal heart morphology
HP:0001789Hydrops fetalis
HP:0002084Encephalocele
HP:0002089Pulmonary hypoplasia
HP:0002093Respiratory insufficiency
HP:0003173Hypoplastic pubic bone
HP:0003175Hypoplastic ischia
HP:0005622Broad long bones
HP:0032548Increased placental thickness
HP:0100759Clubbing of fingers
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)