Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
ORPHA:163654DiseaseUnknownInfancy, Neonatal
Фенотипы (HPO)39
Частый (30–79%)39
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000174Abnormal palate morphology
HP:0000179Thick lower lip vermilion
HP:0000215Thick upper lip vermilion
HP:0000306Abnormality of the chin
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000475Broad neck
HP:0000574Thick eyebrow
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0000767Pectus excavatum
HP:0001156Brachydactyly
HP:0001608Abnormality of the voice
HP:0001832Abnormal metatarsal morphology
HP:0002162Low posterior hairline
HP:0002164Nail dysplasia
HP:0002212Curly hair
HP:0002750Delayed skeletal maturation
HP:0002967Cubitus valgus
HP:0003026Short long bone
HP:0004322Short stature
HP:0004634Cuboid-shaped vertebral bodies
HP:0005069Rhizo-meso-acromelic limb shortening
HP:0005280Depressed nasal bridge
HP:0005622Broad long bones
HP:0006394Limited pronation/supination of forearm
HP:0007665Curly eyelashes
HP:0008496Multiple rows of eyelashes
HP:0008551Microtia
HP:0008839Hypoplastic pelvis
HP:0009103Aplasia/Hypoplasia involving the pelvis
HP:0009937Facial hirsutism
HP:0010306Short thorax
HP:0011829Narrow philtrum
HP:0100625Enlarged thorax
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)