EEC syndrome
ORPHA:1896Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)61
Очень частый (80–99%)17
HP:0000574Thick eyebrow
HP:0000632Lacrimation abnormality
HP:0000670Carious teeth
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0000691Microdontia
HP:0000958Dry skin
HP:0000962Hyperkeratosis
HP:0001092Absent lacrimal punctum
HP:0001171Split hand
HP:0001803Nail pits
HP:0001839Split foot
HP:0002208Coarse hair
HP:0008404Nail dystrophy
HP:0009804Tooth agenesis
HP:0045075Sparse eyebrow
HP:0100257Ectrodactyly
Частый (30–79%)18
HP:0000068Urethral atresia
HP:0000126Hydronephrosis
HP:0000202Orofacial cleft
HP:0000491Keratitis
HP:0000498Blepharitis
HP:0000613Photophobia
HP:0000620Dacryocystitis
HP:0000968Ectodermal dysplasia
HP:0001096Keratoconjunctivitis
HP:0002217Slow-growing hair
HP:0004275Duplication of hand bones
HP:0007513Generalized hypopigmentation
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008678Renal hypoplasia/aplasia
HP:0012165Oligodactyly
HP:0100533Inflammatory abnormality of the eye
HP:0200020Corneal erosion
HP:0410030Cleft lip
Периодический (5–29%)26
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000175Cleft palate
HP:0000217Xerostomia
HP:0000359Abnormality of the inner ear
HP:0000370Abnormality of the middle ear
HP:0000407Sensorineural hearing impairment
HP:0000453Choanal atresia
HP:0000621Entropion
HP:0000778Hypoplasia of the thymus
HP:0000824Decreased response to growth hormone stimulation test
HP:0000830Anterior hypopituitarism
HP:0000966Hypohidrosis
HP:0001249Intellectual disability
HP:0001770Toe syndactyly
HP:0002213Fine hair
HP:0002665Lymphoma
HP:0003764Nevus
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0008070Sparse hair
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0009623Proximal placement of thumb
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0000377Abnormal pinna morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.11 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)