Keppen-Lubinsky syndrome
ORPHA:435628Malformation syndromeAutosomal dominant, Not applicableNeonatal
Ассоциированные гены1
Фенотипы (HPO)42
Облигатный (100%)2
HP:0005328Progeroid facial appearance
HP:0009059Congenital generalized lipodystrophy
Очень частый (80–99%)7
HP:0000194Open mouth
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0001249Intellectual disability
HP:0001347Hyperreflexia
HP:0100678Premature skin wrinkling
Частый (30–79%)31
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000290Abnormality of the forehead
HP:0000292Loss of facial adipose tissue
HP:0000298Mask-like facies
HP:0000430Underdeveloped nasal alae
HP:0000446Narrow nasal bridge
HP:0000496Abnormality of eye movement
HP:0000520Proptosis
HP:0000586Shallow orbits
HP:0001090Abnormally large globe
HP:0001276Hypertonia
HP:0001285Spastic tetraparesis
HP:0001371Flexion contracture
HP:0001508Failure to thrive
HP:0001561Polyhydramnios
HP:0002093Respiratory insufficiency
HP:0002094Dyspnea
HP:0002179Opisthotonus
HP:0002187Intellectual disability, profound
HP:0002650Scoliosis
HP:0002781Upper airway obstruction
HP:0005274Prominent nasal tip
HP:0006532Recurrent pneumonia
HP:0008734Decreased testicular size
HP:0008897Postnatal growth retardation
HP:0009125Lipodystrophy
HP:0009933Narrow naris
HP:0010751Chin dimple
HP:0010804Tented upper lip vermilion
HP:0011344Severe global developmental delay
Периодический (5–29%)2
HP:0001250Seizure
HP:0002659Increased susceptibility to fractures
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)