We present a father and daughter with endosteal hyperostosis. [jmedicalcasereports.biomedcentral.com]

Severe sclerosis of the jaw bones was present only in a 28-year-old woman. The 2-year-son showed only focal sclerosis in the mandible, and his grandmother had minimal changes in the skeleton. [link.springer.com]

Acronym WENHY Synonyms Endosteal hyperostosis autosomal dominant Hyperostosis corticalis generalisata benign form of Worth with torus palatinus Osteosclerosis autosomal dominant Worth syndrome Any medical or genetic information present in this entry is [uniprot.org]

Departments of Neurology and Radiology, Hospital Provincial, Madrid, Spain Search for more papers by this author First published: March 1987 Citations: 20 Abstract The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented [onlinelibrary.wiley.com]

Abstract The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented and two members in two different generations studied. [pubmed.ncbi.nlm.nih.gov]

• Malocclusion

  An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003). (144750) (Updated 05-Apr-2021) KEGG : 36 Worth type autosomal dominant osteosclerosis [malacards.org]

• Low Set Ears

  She had a flat face with mild frontal bossing, small and deeply set eyes, and low-set ears. Musculo-skeletal examination showed normal musculature and no associated anomalies. Blood biochemistry was normal. [jmedicalcasereports.biomedcentral.com]

• Bone Pain

  WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. [uniprot.org]

• Platyspondyly

  The lateral spine radiograph showed no platyspondyly, but marked sclerosis of the entire vertebral cortical rim (arrow) and unusual enlargement of the spinous processes. [jmedicalcasereports.biomedcentral.com]

• Osteopenia

  Spinal segments ankylosis might be a major predisposing factor for the development of marked spinal osteopenia and possibly osteoporosis and fracture [15]. Minor trauma can lead to serious fracture of the ankylosed spine. [jmedicalcasereports.biomedcentral.com]

• Muscle Weakness

  But, in our patient, the absence of muscle weakness, fatigue, poor appetite, headache and pain in the limbs, important features encountered in CED, were absent. Moreover, in CED the long bones are thickened and bone prominences and tenderness occur. [jmedicalcasereports.biomedcentral.com]

• Frontal Bossing

  She had a flat face with mild frontal bossing, small and deeply set eyes, and low-set ears. Musculo-skeletal examination showed normal musculature and no associated anomalies. Blood biochemistry was normal. [jmedicalcasereports.biomedcentral.com]

• Suggestibility

  We suggest that the constellation of spinal changes seen in our patient was possibly caused by progressive prenatal, axial and extra-axial sclerosis. [jmedicalcasereports.biomedcentral.com]

• Myelopathy

  Anterior bony ankylosis over the thoracic spine is an additional risk for the development of myelopathy and fractures and nerve entrapment might result from the progressive involvement of the sclerotic posterior elements of the spine. [jmedicalcasereports.biomedcentral.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Etiology The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation. Genetic counseling Transmission is autosomal dominant. [malacards.org]

Epidemiology The syndrome has been described in less than 10 families. [malacards.org]