Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
ORPHA:457395Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)73
Очень частый (80–99%)30
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000470Short neck
HP:0000520Proptosis
HP:0000598Abnormality of the ear
HP:0000729Autistic behavior
HP:0000926Platyspondyly
HP:0000938Osteopenia
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001270Motor delay
HP:0001288Gait disturbance
HP:0001363Craniosynostosis
HP:0001498Carpal bone hypoplasia
HP:0001845Overlapping toe
HP:0002007Frontal bossing
HP:0002651Spondyloepimetaphyseal dysplasia
HP:0002750Delayed skeletal maturation
HP:0002751Kyphoscoliosis
HP:0002815Abnormality of the knee
HP:0003196Short nose
HP:0003272Abnormality of the hip bone
HP:0004322Short stature
HP:0004689Short fourth metatarsal
HP:0005280Depressed nasal bridge
HP:0010579Cone-shaped epiphysis
HP:0010804Tented upper lip vermilion
HP:0012471Thick vermilion border
HP:0100864Short femoral neck
Частый (30–79%)30
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000766Abnormal sternum morphology
HP:0001256Intellectual disability, mild
HP:0001290Generalized hypotonia
HP:0001763Pes planus
HP:0001838Rocker bottom foot
HP:0002812Coxa vara
HP:0002857Genu valgum
HP:0002944Thoracolumbar scoliosis
HP:0002967Cubitus valgus
HP:0003026Short long bone
HP:0003100Slender long bone
HP:0003275Narrow pelvis bone
HP:0003307Hyperlordosis
HP:0003521Disproportionate short-trunk short stature
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0004568Beaking of vertebral bodies
HP:0005096Distal femoral bowing
HP:0005639Hyperextensible hand joints
HP:0006461Proximal femoral epiphysiolysis
HP:0006863Severe expressive language delay
HP:0010049Short metacarpal
HP:0010585Small epiphyses
HP:0012428Prominent calcaneus
HP:0030292Tibial metaphyseal irregularity
HP:0030293Fibular metaphyseal irregularity
HP:0040261Increased size of nasopharyngeal adenoids
Периодический (5–29%)13
HP:0000486Strabismus
HP:0001377Limited elbow extension
HP:0001643Patent ductus arteriosus
HP:0001653Mitral regurgitation
HP:0001655Patent foramen ovale
HP:0001761Pes cavus
HP:0001863Toe clinodactyly
HP:0002079Hypoplasia of the corpus callosum
HP:0002342Intellectual disability, moderate
HP:0002677Small foramen magnum
HP:0004592Thoracic platyspondyly
HP:0008812Flattened femoral head
HP:0030427Ossifying fibroma of the jaw
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)