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Pelvis-shoulder dysplasia
Disease definition
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.
ORPHA:2839
Classification level: Disorder- Synonym(s):
- Kosenow syndrome
- Scapuloiliac dysostosis
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.5
- OMIM: 169550
- UMLS: C1868508
- MeSH: C566811
- GARD: -
- MedDRA: -
Summary
Epidemiology
Approximately 10 patients have been reported so far.
Clinical description
Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal.
Etiology
Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.
Differential diagnosis
Pelvis-shoulder dysplasia is phenotypically similar to pelvis-scapular dysplasia (Cousin syndrome, which also presents with craniocervical abnormalities; see this term), and, according to some authors, the two entities represent different manifestations of the same disease.
Genetic counseling
Autosomal dominant inheritance has been described in some cases.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)
Additional information