Acro-renal-mandibular syndrome
ORPHA:958Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)7
HP:0001171Split hand
HP:0001839Split foot
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0006381Rudimentary fibula
HP:0006426Rudimentary to absent tibiae
HP:0008678Renal hypoplasia/aplasia
Частый (30–79%)15
HP:0000358Posteriorly rotated ears
HP:0000218High palate
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000768Pectus carinatum
HP:0000813Bicornuate uterus
HP:0000883Thin ribs
HP:0000889Abnormality of the clavicle
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0002089Pulmonary hypoplasia
HP:0002827Hip dislocation
HP:0003762Uterus didelphys
HP:0004408Abnormality of the sense of smell
HP:0010669Hypoplasia of the zygomatic bone
Периодический (5–29%)15
HP:0000202Orofacial cleft
HP:0000275Narrow face
HP:0000322Short philtrum
HP:0000494Downslanted palpebral fissures
HP:0000776Congenital diaphragmatic hernia
HP:0000882Hypoplastic scapulae
HP:0000912Sprengel anomaly
HP:0002101Abnormal lung lobation
HP:0002575Tracheoesophageal fistula
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002937Hemivertebrae
HP:0003316Butterfly vertebrae
HP:0006101Finger syndactyly
HP:0010295Aplasia/Hypoplasia of the tongue
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)