Skip to main content

Table 1 Diagnostic characteristics of STWS

From: Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Organ system Neonatal Childhood Treatment Reference
Embryonic Oligohydramnios    [20]
Intrauterine growth restriction; low birth weight, length and head circumference Growth retardation   [1, 2, 20]
Skeletal Micromelia, bowing of the long bones with cortical thickening, wide metaphyses, and abnormal trabeculae Progressive bowing of the long bones with continued radiologic abnormalities   [1, 2, 7, 12, 13, 19, 55]
Camptodactyly Camptodactyly   [1, 2]
Scoliosis Scoliosis Corrective surgery [7, 12, 13]
Osteopenia or osteoporosis Osteopenia or osteoporosis Bisphosphonates, calcium, vitamin D, human growth hormone, surgery and physical therapy [11, 13, 18]
Facial anomalies Facial anomalies   [18]
  Spontaneous fractures Prominent joints with restricted mobility Corrective surgery [7, 12, 13, 119]
Muscular Hypotonia, Contractures    [19]
Pulmonary Respiratory distress Respiratory distress improves   [1, 2]
Pulmonary hypoplasia    [20]
Cardiovascular Pulmonary hypertension    [79–81]
Gastrointestinal Dysphagia Dysphagia improves Intubation, nasogastric tube feeding, gastrostomy [12, 13]
Nervous system Hyperthermic episodes Temperature instability   [1, 2]
Excessive sweating Excessive and paradoxical sweating   [9]
Absent corneal and patellar reflexes Absent corneal and patellar reflexes   [7, 12, 13]
Hypolacrimation Hypolacrimation artificial tear drops and ointments, lacrimal punctum dilation [17, 120, 121]
  Delayed motor development Reduced pain sensation Smooth tongue   [7, 12, 13]
Ocular Corneal opacities Corneal opacities Keratectomy [17, 120]
Endocrine system Ectopic thyroid Hypothyroidism    [18]
  1. Open cells in the table indicate no available treatment. Some features generally improve over time (i.e., respiratory distress and dysphagia), while other features become progressively worse (i.e., bowing of the long bones).
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172