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GTR Home > Conditions/Phenotypes > Pelviscapular dysplasia

Pelviscapular dysplasia

Synonyms
Cousin syndrome; Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia. [from SNOMEDCT_US]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: TBX14, TBX15
    Summary: T-box transcription factor 15

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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