Menke-Hennekam syndrome
ORPHA:592574Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0008872Feeding difficulties in infancy
Частый (30–79%)25
HP:0000028Cryptorchidism
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000288Abnormality of the philtrum
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000527Long eyelashes
HP:0000540Hypermetropia
HP:0000729Autistic behavior
HP:0001270Motor delay
HP:0001511Intrauterine growth retardation
HP:0001852Sandal gap
HP:0002000Short columella
HP:0002553Highly arched eyebrow
HP:0002788Recurrent upper respiratory tract infections
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0011220Prominent forehead
HP:0200006Slanting of the palpebral fissure
Периодический (5–29%)14
HP:0000023Inguinal hernia
HP:0000175Cleft palate
HP:0000545Myopia
HP:0001250Seizure
HP:0001385Hip dysplasia
HP:0001518Small for gestational age
HP:0001537Umbilical hernia
HP:0001627Abnormal heart morphology
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0010935Abnormality of the upper urinary tract
HP:0012725Cutaneous syndactyly
HP:0025502Overweight
Очень редкий (1–4%)3
HP:0002926Abnormality of thyroid physiology
HP:0012762Cerebral white matter atrophy
HP:0034323Reduced circulating growth hormone concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 27 | 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)