Aymé-Gripp syndrome
ORPHA:1272Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)4
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0008897Postnatal growth retardation
HP:0012368Flat face
Частый (30–79%)40
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000219Thin upper lip vermilion
HP:0000238Hydrocephalus
HP:0000239Large fontanelles
HP:0000248Brachycephaly
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000519Developmental cataract
HP:0000582Upslanted palpebral fissure
HP:0000586Shallow orbits
HP:0000677Oligodontia
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001357Plagiocephaly
HP:0001376Limitation of joint mobility
HP:0001488Bilateral ptosis
HP:0001838Rocker bottom foot
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002209Sparse scalp hair
HP:0002353EEG abnormality
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005487Prominent metopic ridge
HP:0007099Chiari type I malformation
HP:0008551Microtia
HP:0008947Floppy infant
HP:0011333Asymmetric crying face
HP:0012385Camptodactyly
Периодический (5–29%)22
HP:0000023Inguinal hernia
HP:0000093Proteinuria
HP:0000270Delayed cranial suture closure
HP:0000402Stenosis of the external auditory canal
HP:0000485Megalocornea
HP:0000501Glaucoma
HP:0000527Long eyelashes
HP:0000765Abnormal thorax morphology
HP:0000776Congenital diaphragmatic hernia
HP:0001363Craniosynostosis
HP:0001643Patent ductus arteriosus
HP:0001698Pericardial effusion
HP:0001701Pericarditis
HP:0002079Hypoplasia of the corpus callosum
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002650Scoliosis
HP:0002680J-shaped sella turcica
HP:0002974Radioulnar synostosis
HP:0003187Breast hypoplasia
HP:0005815Supernumerary ribs
HP:0012770Reduced arm span
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)