Yunis-Varon syndrome
ORPHA:3472Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)90
Очень частый (80–99%)3
HP:0009881Aplasia of the distal phalanges of the hand
HP:0010102Aplasia of the distal phalanx of the hallux
HP:0010107Short proximal phalanx of hallux
Частый (30–79%)63
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000188Short upper lip
HP:0000216Broad secondary alveolar ridge
HP:0000233Thin vermilion border
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000331Short chin
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000463Anteverted nares
HP:0000518Cataract
HP:0000520Proptosis
HP:0000582Upslanted palpebral fissure
HP:0000647Sclerocornea
HP:0000653Sparse eyelashes
HP:0000954Single transverse palmar crease
HP:0001159Syndactyly
HP:0001167Abnormality of finger
HP:0001182Tapered finger
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001302Pachygyria
HP:0001525Severe failure to thrive
HP:0001629Ventricular septal defect
HP:0001638Cardiomyopathy
HP:0001640Cardiomegaly
HP:0001831Short toe
HP:0001838Rocker bottom foot
HP:0001840Metatarsus adductus
HP:0002092Pulmonary arterial hypertension
HP:0002139Arrhinencephaly
HP:0002209Sparse scalp hair
HP:0002529Neuronal loss in central nervous system
HP:0002696Abnormal parietal bone morphology
HP:0002705High, narrow palate
HP:0004322Short stature
HP:0004331Decreased skull ossification
HP:0005793Shortening of all distal phalanges of the toes
HP:0005819Short middle phalanx of finger
HP:0005989Redundant neck skin
HP:0006323Premature loss of primary teeth
HP:0006628Absent sternal ossification
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0006710Aplasia/Hypoplasia of the clavicles
HP:0007333Hypoplasia of the frontal lobes
HP:0007633Bilateral microphthalmos
HP:0008386Aplasia/Hypoplasia of the nails
HP:0008897Postnatal growth retardation
HP:0008935Generalized neonatal hypotonia
HP:0009381Short finger
HP:0009777Absent thumb
HP:0010035Aplasia of the 1st metacarpal
HP:0010067Aplasia/hypoplasia of the 1st metatarsal
HP:0010537Wide cranial sutures
HP:0011061Abnormality of dental structure
HP:0011451Congenital microcephaly
HP:0012294Abnormality of the occipital bone
HP:0040163Abnormal pelvis bone morphology
HP:0045075Sparse eyebrow
Периодический (5–29%)23
HP:0000028Cryptorchidism
HP:0000059Hypoplastic labia majora
HP:0000162Glossoptosis
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000568Microphthalmia
HP:0000773Short ribs
HP:0000822Hypertension
HP:0001321Cerebellar hypoplasia
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001789Hydrops fetalis
HP:0001920Renal artery stenosis
HP:0002021Pyloric stenosis
HP:0002827Hip dislocation
HP:0003015Flared metaphysis
HP:0004993Slender long bones with narrow diaphyses
HP:0006713Aplasia/Hypoplasia of the scapulae
HP:0008665Clitoral hypertrophy
HP:0010880Increased nuchal translucency
HP:0012809Narrow nasal base
HP:0030816Gingival recession
HP:0100817Renovascular hypertension
Очень редкий (1–4%)1
HP:0001636Tetralogy of Fallot
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)