Cleidorhizomelic syndrome

Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 3239579
 Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect.
Wallis C, Zieff S, Goldblatt J.
Am J Med Genet. 1988;31(4):881-5.
Skeletal dysplasia
SON
Adult Body Height Females Genes, Dominant Hip Joint Homo sapiens Infant, Newborn Male
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000889 Abnormality of the clavicle Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004220 Short middle phalanx of the 5th finger Very frequent (99-80%)
HP:0005019 Diaphyseal thickening Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID