MOMO syndrome
ORPHA:2563Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)44
Облигатный (100%)1
HP:0001513Obesity
Частый (30–79%)38
HP:0000179Thick lower lip vermilion
HP:0000215Thick upper lip vermilion
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000567Chorioretinal coloboma
HP:0000625Eyelid coloboma
HP:0000639Nystagmus
HP:0000679Taurodontia
HP:0000684Delayed eruption of teeth
HP:0000689Dental malocclusion
HP:0000879Short sternum
HP:0000965Cutis marmorata
HP:0001176Large hands
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001520Large for gestational age
HP:0001548Overgrowth
HP:0001795Hyperconvex nail
HP:0001833Long foot
HP:0002007Frontal bossing
HP:0002980Femoral bowing
HP:0004322Short stature
HP:0007633Bilateral microphthalmos
HP:0008577Underfolded helix
HP:0011849Abnormal bone ossification
HP:0012810Wide nasal base
HP:0025112Sound sensitivity
Периодический (5–29%)4
HP:0000098Tall stature
HP:0000618Blindness
HP:0000717Autism
HP:0006585Congenital pseudoarthrosis of the clavicle
Исключён (0%)1
HP:0000820Abnormality of the thyroid gland
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)