Ring chromosome 7 syndrome
ORPHA:1449Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)58
Очень частый (80–99%)29
HP:0000047Hypospadias
HP:0000135Hypogonadism
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000322Short philtrum
HP:0000385Small earlobe
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000601Hypotelorism
HP:0000932Abnormality of the posterior cranial fossa
HP:0001270Motor delay
HP:0001488Bilateral ptosis
HP:0002120Cerebral cortical atrophy
HP:0002553Highly arched eyebrow
HP:0004322Short stature
HP:0004425Flat forehead
HP:0007687Unilateral ptosis
HP:0008846Severe intrauterine growth retardation
HP:0009088Speech articulation difficulties
HP:0009899Prominent crus of helix
HP:0011344Severe global developmental delay
HP:0012368Flat face
Частый (30–79%)6
HP:0001000Abnormality of skin pigmentation
HP:0001238Slender finger
HP:0002119Ventriculomegaly
HP:0003196Short nose
HP:0009933Narrow naris
HP:0030148Heart murmur
Периодический (5–29%)15
HP:0000034Hydrocele testis
HP:0000175Cleft palate
HP:0000303Mandibular prognathia
HP:0000329Facial hemangioma
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000565Esotropia
HP:0000954Single transverse palmar crease
HP:0000957Cafe-au-lait spot
HP:0001317Abnormal cerebellum morphology
HP:0002857Genu valgum
HP:0002861Melanoma
HP:0004619Lumbar kyphoscoliosis
HP:0007481Hyperpigmented nevi
HP:0200055Small hand
Очень редкий (1–4%)8
HP:0000193Bifid uvula
HP:0001357Plagiocephaly
HP:0001360Holoprosencephaly
HP:0001696Situs inversus totalis
HP:0004209Clinodactyly of the 5th finger
HP:0009099Median cleft palate
HP:0009237Short 5th finger
HP:00097793-4 toe syndactyly
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)