Stüve-Wiedemann syndrome
ORPHA:3206Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)17
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000935Thickened cortex of long bones
HP:0000944Abnormal metaphysis morphology
HP:0000966Hypohidrosis
HP:0000975Hyperhidrosis
HP:0001954Recurrent fever
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0003016Metaphyseal widening
HP:0003103Abnormal cortical bone morphology
HP:0003401Paresthesia
HP:0004322Short stature
HP:0006487Bowing of the long bones
HP:0008872Feeding difficulties in infancy
HP:0012332Abnormal autonomic nervous system physiology
HP:0100490Camptodactyly of finger
Частый (30–79%)20
HP:0000211Trismus
HP:0000632Lacrimation abnormality
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001371Flexion contracture
HP:0001376Limitation of joint mobility
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001762Talipes equinovarus
HP:0002098Respiratory distress
HP:0002099Asthma
HP:0002104Apnea
HP:0002650Scoliosis
HP:0002757Recurrent fractures
HP:0002857Genu valgum
HP:0002987Elbow flexion contracture
HP:0006380Knee flexion contracture
HP:0007328Impaired pain sensation
HP:0010298Smooth tongue
HP:0012785Flexion contracture of finger
Периодический (5–29%)7
HP:0000164Abnormality of the dentition
HP:0000821Hypothyroidism
HP:0000960Sacral dimple
HP:0001252Hypotonia
HP:0006844Absent patellar reflexes
HP:0008000Decreased corneal reflex
HP:0100028Ectopic thyroid
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 56 | Worldwide | Case(s) |
| Prevalence at birth | 1-5 / 10 000 | 20 | United Arab Emirates | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)