Lenz-Majewski hyperostotic dysplasia
ORPHA:2658Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)58
Очень частый (80–99%)30
HP:0001382Joint hypermobility
HP:0000239Large fontanelles
HP:0000256Macrocephaly
HP:0000270Delayed cranial suture closure
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000400Macrotia
HP:0000453Choanal atresia
HP:0000682Abnormality of dental enamel
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001582Redundant skin
HP:0002684Thickened calvaria
HP:0002750Delayed skeletal maturation
HP:0003103Abnormal cortical bone morphology
HP:0003510Severe short stature
HP:0004279Short palm
HP:0004437Cranial hyperostosis
HP:0005465Facial hyperostosis
HP:0006101Finger syndactyly
HP:0006660Aplastic clavicles
HP:0007495Prematurely aged appearance
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009773Symphalangism affecting the phalanges of the hand
HP:0011001Increased bone mineral density
HP:0011002Osteopetrosis
Частый (30–79%)13
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000036Abnormality of the penis
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000154Wide mouth
HP:0000614Abnormal nasolacrimal system morphology
HP:0001167Abnormality of finger
HP:0003070Elbow ankylosis
HP:0005916Abnormal metacarpal morphology
HP:0010628Facial palsy
HP:0012471Thick vermilion border
HP:0100541Femoral hernia
Периодический (5–29%)15
HP:0000135Hypogonadism
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000238Hydrocephalus
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0001376Limitation of joint mobility
HP:0001804Hypoplastic fingernail
HP:0001812Hyperconvex fingernails
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002808Kyphosis
HP:0003241External genital hypoplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)