Autosomal recessive cutis laxa type 2A
ORPHA:357058DiseaseAutosomal recessiveNeonatal
Фенотипы (HPO)53
Очень частый (80–99%)9
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0004474Persistent open anterior fontanelle
HP:0005328Progeroid facial appearance
HP:0007392Excessive wrinkled skin
HP:0011003High myopia
HP:0025082Abnormal cutaneous elastic fiber morphology
Частый (30–79%)23
HP:0000023Inguinal hernia
HP:0000260Wide anterior fontanel
HP:0000270Delayed cranial suture closure
HP:0000426Prominent nasal bridge
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0001252Hypotonia
HP:0001302Pachygyria
HP:0001511Intrauterine growth retardation
HP:0001763Pes planus
HP:0002197Generalized-onset seizure
HP:0002198Dilated fourth ventricle
HP:0002376Developmental regression
HP:0002384Focal impaired awareness seizure
HP:0002438Cerebellar malformation
HP:0005272Prominent nasolabial fold
HP:0005445Enlarged posterior fossa
HP:0005484Secondary microcephaly
HP:0006891Thick cerebral cortex
HP:0008897Postnatal growth retardation
HP:0011344Severe global developmental delay
HP:0011451Congenital microcephaly
HP:0100874Thick hair
Периодический (5–29%)16
HP:0000343Long philtrum
HP:0000592Blue sclerae
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001305Dandy-Walker malformation
HP:0001320Cerebellar vermis hypoplasia
HP:0001332Dystonia
HP:0001350Slurred speech
HP:0001374Congenital hip dislocation
HP:0001892Abnormal bleeding
HP:0002007Frontal bossing
HP:0002305Athetosis
HP:0002334Abnormality of the cerebellar vermis
HP:0002540Inability to walk
HP:0006989Dysplastic corpus callosum
Очень редкий (1–4%)3
HP:0000365Hearing impairment
HP:0000481Abnormal cornea morphology
HP:0002659Increased susceptibility to fractures
Исключён (0%)2
HP:0000974Hyperextensible skin
HP:0007957Corneal opacity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | 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)