Wrinkly skin syndrome
ORPHA:2834Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)61
Облигатный (100%)1
HP:0007407Excessive skin wrinkling on dorsum of hands and fingers
Очень частый (80–99%)52
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000253Progressive microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000455Broad nasal tip
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0000684Delayed eruption of teeth
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0000938Osteopenia
HP:0000973Cutis laxa
HP:0001263Global developmental delay
HP:0001374Congenital hip dislocation
HP:0001476Delayed closure of the anterior fontanelle
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001611Hypernasal speech
HP:0001763Pes planus
HP:0001788Premature rupture of membranes
HP:0001869Deep plantar creases
HP:0002645Wormian bones
HP:0002751Kyphoscoliosis
HP:0002761Generalized joint laxity
HP:0002812Coxa vara
HP:0003160Abnormal isoelectric focusing of serum transferrin
HP:0003199Decreased muscle mass
HP:0004322Short stature
HP:0004426Abnormality of the cheek
HP:0004993Slender long bones with narrow diaphyses
HP:0005272Prominent nasolabial fold
HP:0005425Recurrent sinopulmonary infections
HP:0006114Multiple palmar creases
HP:0006191Deep palmar crease
HP:0006891Thick cerebral cortex
HP:0007392Excessive wrinkled skin
HP:0007457Prominent veins on trunk
HP:0008070Sparse hair
HP:0008113Multiple plantar creases
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0009125Lipodystrophy
HP:0010838High nonceruloplasmin-bound serum copper
HP:0011003High myopia
HP:0025167Fragmented elastic fibers in the dermis
HP:0200141Small, conical teeth
Частый (30–79%)6
HP:0001305Dandy-Walker malformation
HP:0001320Cerebellar vermis hypoplasia
HP:0001350Slurred speech
HP:0002073Progressive cerebellar ataxia
HP:0002133Status epilepticus
HP:0011995Atrial septal dilatation
Периодический (5–29%)1
HP:0010989Abnormality of the intrinsic pathway
Исключён (0%)1
HP:0002097Emphysema
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)