Dubowitz syndrome
ORPHA:235Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)102
Очень частый (80–99%)10
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000506Telecanthus
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0009602Abnormality of thumb phalanx
HP:0009891Underdeveloped supraorbital ridges
HP:0011304Broad thumb
Частый (30–79%)35
HP:0000176Submucous cleft hard palate
HP:0000260Wide anterior fontanel
HP:0000270Delayed cranial suture closure
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000403Recurrent otitis media
HP:0000411Protruding ear
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000964Eczematoid dermatitis
HP:0001508Failure to thrive
HP:0001609Hoarse voice
HP:0001620Abnormally high-pitched voice
HP:0001773Short foot
HP:0001852Sandal gap
HP:0002093Respiratory insufficiency
HP:0002209Sparse scalp hair
HP:0002213Fine hair
HP:0002719Recurrent infections
HP:0002750Delayed skeletal maturation
HP:0004209Clinodactyly of the 5th finger
HP:0005280Depressed nasal bridge
HP:0005338Sparse lateral eyebrow
HP:0007018Attention deficit hyperactivity disorder
HP:0008897Postnatal growth retardation
HP:0009738Abnormality of the antihelix
HP:0012758Neurodevelopmental delay
HP:0200055Small hand
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000055Abnormality of female external genitalia
HP:0000358Posteriorly rotated ears
Периодический (5–29%)49
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000518Cataract
HP:0000545Myopia
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000678Dental crowding
HP:0000684Delayed eruption of teeth
HP:0000736Short attention span
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0000829Hypoparathyroidism
HP:0000958Dry skin
HP:0000960Sacral dimple
HP:0000965Cutis marmorata
HP:0001000Abnormality of skin pigmentation
HP:0001156Brachydactyly
HP:0001231Abnormal fingernail morphology
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001328Specific learning disability
HP:0001363Craniosynostosis
HP:0001627Abnormal heart morphology
HP:0001770Toe syndactyly
HP:0001800Hypoplastic toenails
HP:0001840Metatarsus adductus
HP:0001873Thrombocytopenia
HP:0001874Abnormality of neutrophils
HP:0001903Anemia
HP:0002013Vomiting
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002024Malabsorption
HP:0002025Anal stenosis
HP:0002028Chronic diarrhea
HP:0002035Rectal prolapse
HP:0002099Asthma
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0003298Spina bifida occulta
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008872Feeding difficulties in infancy
HP:0030680Abnormal cardiovascular system morphology
HP:5200060Auditory hypersensitivity
HP:0001382Joint hypermobility
Очень редкий (1–4%)8
HP:0000154Wide mouth
HP:0000485Megalocornea
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000824Decreased response to growth hormone stimulation test
HP:0002664Neoplasm
HP:0002665Lymphoma
HP:0006721Acute lymphoblastic leukemia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)