Frontometaphyseal dysplasia
ORPHA:1826DiseaseAutosomal dominant, X-linked dominantNeonatal
Ассоциированные гены2
Фенотипы (HPO)62
Очень частый (80–99%)13
HP:0000316Hypertelorism
HP:0000336Prominent supraorbital ridges
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0001999Abnormal facial shape
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0009473Joint contracture of the hand
HP:0009803Short phalanx of finger
HP:0011304Broad thumb
HP:0100807Long fingers
Частый (30–79%)30
HP:0000126Hydronephrosis
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000941Short diaphyses
HP:0001220Interphalangeal joint contracture of finger
HP:0001239Wrist flexion contracture
HP:0001607Subglottic stenosis
HP:0001627Abnormal heart morphology
HP:0002694Sclerosis of skull base
HP:0002949Fused cervical vertebrae
HP:0002987Elbow flexion contracture
HP:0002996Limited elbow movement
HP:0003016Metaphyseal widening
HP:0003083Dislocated radial head
HP:0006000Ureteral obstruction
HP:0006070Metacarpophalangeal joint contracture
HP:0006248Limited wrist movement
HP:0008081Pes valgus
HP:0008661Urethral stenosis
HP:0009487Ulnar deviation of the hand
HP:0009650Short distal phalanx of the thumb
HP:0009882Short distal phalanx of finger
HP:0010049Short metacarpal
HP:0010501Limitation of knee mobility
HP:0010505Limitation of movement at ankles
HP:0010562Keloids
HP:0010743Short metatarsal
HP:0100490Camptodactyly of finger
Периодический (5–29%)19
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000410Mixed hearing impairment
HP:0000481Abnormal cornea morphology
HP:0000483Astigmatism
HP:0000646Amblyopia
HP:0000677Oligodontia
HP:0000912Sprengel anomaly
HP:0000954Single transverse palmar crease
HP:0001249Intellectual disability
HP:0001363Craniosynostosis
HP:0001510Growth delay
HP:0001761Pes cavus
HP:0002308Chiari malformation
HP:0003298Spina bifida occulta
HP:0006006Hypotrophy of the small hand muscles
HP:0006383Progressive bowing of long bones
HP:0008952Shoulder muscle hypoplasia
HP:0009004Hypoplasia of the musculature
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)