Cleft lip/palate-ectodermal dysplasia syndrome
ORPHA:3253Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)5
HP:0000204Cleft upper lip
HP:0000400Macrotia
HP:0000968Ectodermal dysplasia
HP:0001770Toe syndactyly
HP:0006101Finger syndactyly
Частый (30–79%)26
HP:0000046Small scrotum
HP:0000135Hypogonadism
HP:0000164Abnormality of the dentition
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000664Synophrys
HP:0000670Carious teeth
HP:0001249Intellectual disability
HP:0001596Alopecia
HP:0001810Dystrophic toenail
HP:0002167Abnormality of speech or vocalization
HP:0002205Recurrent respiratory infections
HP:0002553Highly arched eyebrow
HP:0003777Pili torti
HP:0005338Sparse lateral eyebrow
HP:0006482Abnormal dental morphology
HP:0006610Wide intermamillary distance
HP:0007598Bilateral single transverse palmar creases
HP:0008070Sparse hair
HP:0008391Dystrophic fingernails
HP:0008404Nail dystrophy
HP:0010669Hypoplasia of the zygomatic bone
HP:0011800Midface retrusion
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)10
HP:0000069Abnormality of the ureter
HP:0000668Hypodontia
HP:0000674Anodontia
HP:0000682Abnormality of dental enamel
HP:0000966Hypohidrosis
HP:0000972Palmoplantar hyperkeratosis
HP:0001250Seizure
HP:0002353EEG abnormality
HP:0003307Hyperlordosis
HP:0007477Abnormal dermatoglyphics
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 50 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)