" /> Mesomelia-synostoses syndrome - CISMeF





Preferred Label : Mesomelia-synostoses syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type; Mesomelic dysplasia, syndromic; Chromosome 8q13 deletion syndrome;

Description : The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009). Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene deletion syndrome caused by heterozygous deletion (582-738 kb) of 8q13 including the SULF1 (610012) and SLCO5A1 (613543) genes;

Prefixed ID : #600383;

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03/05/2025


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