Home Page
Orphanet References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-10-2016
Symbol SHFM1
Location 7q21.3
HGNC id 10843
Name split hand and foot malformation 1
Other name(s)
  • EEC syndrome, ectrodactyly ectodermal dysplasia and cleft lip/palate (Mim: 129900)
  • split-hand/foot malformation with sensorineural hearing loss (Mim: 220600)
    • Corresponding gene SHFM1 , DLX5 , DLX6
    Other symbol(s) SHFD1, SHFDM, EEC1, SHFM1D
    Main clinical features
  • affecting the distal extremities with syndactylies, median clefts of the hand and feet, aplasia/hypoplasia of the phalanges, metacarpals and metatarsals
  • sometimes associated with lacrimal duct abnormalities, urogenital problems, conductive deafness, facial dysmorphism, chronic recurrent respiratory infections and developmental delay
    • Genetic determination autosomal dominant
    Related entries DEL7Q21
    Function/system disorder osteo-articular
    congenital malformation
    dermatology
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   interstitial deletions encompassing SHFM1, DLX5 and DLX6 genes
      breakpoint   translocations and inversions with a breakpoint at 7q21.3 and functional haploinsufficiency of candidate genes
    Remark(s) candidate genes SHFM1, DLX5 and DLX6
    Genotype/Phenotype correlations phenotypic variability and reduced penetrance with about 30 percent of obligate carriers showing no phenotypic effect