Synonym(s): - Stüve-Wiedemann dysplasia
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537502
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
LIFR	P42702	151443

- Anomalies of eyes and vision
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Cortical anomaly / thick bone cortical layer
- Dysautonomia / autonomous nervous sytem anomalies
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Early death / lethality
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperhidrosis / increased sweating
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Metaphyseal anomaly
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

- Anomalies of tongue, gingiva and oral mucosa
- Apnea / sleep apnea
- Asthma / bronchospasm
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Defect / anomaly of lacrimal system
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Genu valgum
- Insensitivity to pain
- Intrauterine growth retardation
- Mutiple fractures / bone fragility
- Oligoamnios
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Talipes-varus / metatarsal varus

- Anomalies of teeth and dentition
- Areflexia / hyporeflexia
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Hypothyroidy
- Hypotonia
- Sacral sinus / dimple