Microcephalic osteodysplastic primordial dwarfism types I and III
ORPHA:2636Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)74
Очень частый (80–99%)62
HP:0000072Hydroureter
HP:0000077Abnormality of the kidney
HP:0000079Abnormality of the urinary system
HP:0000126Hydronephrosis
HP:0000252Microcephaly
HP:0000269Prominent occiput
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000448Prominent nose
HP:0000470Short neck
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0000924Abnormality of the skeletal system
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000944Abnormal metaphysis morphology
HP:0001156Brachydactyly
HP:0001167Abnormality of finger
HP:0001176Large hands
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001328Specific learning disability
HP:0001511Intrauterine growth retardation
HP:0001596Alopecia
HP:0001622Premature birth
HP:0002063Rigidity
HP:0002094Dyspnea
HP:0002121Generalized non-motor (absence) seizure
HP:0002133Status epilepticus
HP:0002748Rickets
HP:0002749Osteomalacia
HP:0002750Delayed skeletal maturation
HP:0002878Respiratory failure
HP:0002983Micromelia
HP:0003172Abnormality of the pubic bone
HP:0003189Long nose
HP:0003312Abnormal form of the vertebral bodies
HP:0003510Severe short stature
HP:0003552Muscle stiffness
HP:0004279Short palm
HP:0005108Abnormal intervertebral disk morphology
HP:0005613Aplasia/hypoplasia of the femur
HP:0005916Abnormal metacarpal morphology
HP:0006660Aplastic clavicles
HP:0007598Bilateral single transverse palmar creases
HP:0008070Sparse hair
HP:0008818Large iliac wings
HP:0009832Abnormal distal phalanx morphology of finger
HP:0009836Broad distal phalanx of finger
HP:0010443Bifid femur
HP:0010935Abnormality of the upper urinary tract
HP:0011097Epileptic spasm
HP:0011457Loss of eyelashes
HP:0045074Thin eyebrow
HP:0100530Abnormality of calcium-phosphate metabolism
HP:0100569Abnormally ossified vertebrae
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000340Sloping forehead
HP:0000474Thickened nuchal skin fold
HP:0000494Downslanted palpebral fissures
HP:0004209Clinodactyly of the 5th finger
HP:0009912Abnormal tragus morphology
HP:0012471Thick vermilion border
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 53 | 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)