Guttmacher syndrome

Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(51.6%)		 24934387
 Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.
Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N.
Am J Med Genet A. 2014;164A(9):2398-402.
Small nail Short thumb
HOXA13 TRIO
c|SUB|A|1102|T p|SUB|I|368|F
Amino Acid Sequence Base Sequence Child Congenital Foot Deformity Congenital Hand Deformities Females Genetic Predisposition to Disease Homeodomain Proteins Homo sapiens Infant Infant, Newborn Molecular Sequence Data Mutation Urogenital Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001792 Small nail 1
HP:0009778 Short thumb 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HOXA13 homeobox A13 3209