Coffin-Lowry syndrome
ORPHA:192Malformation syndromeX-linked dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)81
Очень частый (80–99%)31
HP:0001382Joint hypermobility
HP:0000179Thick lower lip vermilion
HP:0000194Open mouth
HP:0000232Everted lower lip vermilion
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000668Hypodontia
HP:0000687Widely spaced teeth
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000940Abnormal diaphysis morphology
HP:0001176Large hands
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001500Broad finger
HP:0002007Frontal bossing
HP:0002167Abnormality of speech or vocalization
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002808Kyphosis
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0004493Craniofacial hyperostosis
HP:0005280Depressed nasal bridge
HP:0006482Abnormal dental morphology
HP:0009928Thick nasal alae
HP:0011344Severe global developmental delay
Частый (30–79%)26
HP:0000154Wide mouth
HP:0000189Narrow palate
HP:0000218High palate
HP:0000252Microcephaly
HP:0000327Hypoplasia of the maxilla
HP:0000411Protruding ear
HP:0000445Wide nose
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001582Redundant skin
HP:0001763Pes planus
HP:0001804Hypoplastic fingernail
HP:0001812Hyperconvex fingernails
HP:0002119Ventriculomegaly
HP:0002191Progressive spasticity
HP:0002868Narrow iliac wings
HP:0006480Premature loss of teeth
HP:0006692Short chordae tendineae of the tricuspid valve
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0009193Pseudoepiphyses of the metacarpals
HP:0009882Short distal phalanx of finger
HP:0010049Short metacarpal
HP:0011065Conical incisor
HP:0011220Prominent forehead
HP:0011580Short chordae tendineae of the mitral valve
Периодический (5–29%)24
HP:0000023Inguinal hernia
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000518Cataract
HP:0000648Optic atrophy
HP:0000684Delayed eruption of teeth
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001324Muscle weakness
HP:0001633Abnormal mitral valve morphology
HP:0001638Cardiomyopathy
HP:0001646Abnormal aortic valve morphology
HP:0001702Abnormal tricuspid valve morphology
HP:0002120Cerebral cortical atrophy
HP:0002269Abnormality of neuronal migration
HP:0002711Exaggerated median tongue furrow
HP:0003202Skeletal muscle atrophy
HP:0006288Advanced eruption of teeth
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007703Abnormality of retinal pigmentation
HP:0010535Sleep apnea
HP:0010819Atonic seizure
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)