Robinow syndrome
ORPHA:97360Malformation syndromeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Фенотипы (HPO)65
Очень частый (80–99%)2
HP:0003027Mesomelia
HP:0004322Short stature
Частый (30–79%)5
HP:0000316Hypertelorism
HP:0001518Small for gestational age
HP:0003086Acromesomelia
HP:0003241External genital hypoplasia
HP:0005011Mesomelic arm shortening
Периодический (5–29%)51
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000054Micropenis
HP:0000059Hypoplastic labia majora
HP:0000060Clitoral hypoplasia
HP:0000126Hydronephrosis
HP:0000187Broad alveolar ridges
HP:0000202Orofacial cleft
HP:0000207Triangular mouth
HP:0000212Gingival overgrowth
HP:0000256Macrocephaly
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000454Flared nostrils
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000520Proptosis
HP:0000668Hypodontia
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0000692Tooth malposition
HP:0000902Rib fusion
HP:0000921Missing ribs
HP:0001156Brachydactyly
HP:0001159Syndactyly
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
HP:0001680Coarctation of aorta
HP:0001792Small nail
HP:0002007Frontal bossing
HP:0002164Nail dysplasia
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0002937Hemivertebrae
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0006439Radioulnar dislocation
HP:0009611Bifid distal phalanx of the thumb
HP:0009882Short distal phalanx of finger
HP:0009890High anterior hairline
HP:0010296Ankyloglossia
HP:0010297Bifid tongue
HP:0010882Pulmonary valve atresia
HP:0011662Tricuspid atresia
HP:0011800Midface retrusion
HP:0030039Fused thoracic vertebrae
HP:0030264Webbed penis
Очень редкий (1–4%)7
HP:0000003Multicystic kidney dysplasia
HP:0000410Mixed hearing impairment
HP:0001537Umbilical hernia
HP:0006291Marked delay in eruption of permanent teeth
HP:0006335Persistence of primary teeth
HP:0012758Neurodevelopmental delay
HP:0040171Decreased serum testosterone concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)