Melnick-Needles syndrome
ORPHA:2484Malformation syndromeX-linked dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)11
HP:0000270Delayed cranial suture closure
HP:0000316Hypertelorism
HP:0000336Prominent supraorbital ridges
HP:0000347Micrognathia
HP:0000520Proptosis
HP:0000774Narrow chest
HP:0000944Abnormal metaphysis morphology
HP:0003103Abnormal cortical bone morphology
HP:0004322Short stature
HP:0006487Bowing of the long bones
HP:0010306Short thorax
Частый (30–79%)22
HP:0001382Joint hypermobility
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000293Full cheeks
HP:0000324Facial asymmetry
HP:0000365Hearing impairment
HP:0000684Delayed eruption of teeth
HP:0000692Tooth malposition
HP:0000772Abnormal rib morphology
HP:0000894Short clavicles
HP:0001671Abnormal cardiac septum morphology
HP:0002007Frontal bossing
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002827Hip dislocation
HP:0002879Anisospondyly
HP:0003172Abnormality of the pubic bone
HP:0004493Craniofacial hyperostosis
HP:0009771Osteolytic defects of the phalanges of the hand
HP:0009882Short distal phalanx of finger
HP:0010230Cone-shaped epiphyses of the phalanges of the hand
Периодический (5–29%)2
HP:0001539Omphalocele
HP:0002093Respiratory insufficiency
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | 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)