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Split hand-foot malformation 1 with sensorineural hearing loss(SHFM1D)

MedGen UID:
347431
•Concept ID:
C1857344
•
Congenital Abnormality; Disease or Syndrome
Synonyms: DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET; Split-hand/foot malformation 1 with sensorineural hearing loss; SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
SNOMED CT: Congenital deafness with split hands and feet (723611008); Split hand, split foot malformation with sensorineural hearing loss syndrome (723611008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): DLX5 (7q21.3)
 
Monarch Initiative: MONDO:0009080
OMIM®: 220600
Orphanet: ORPHA71271

Definition

Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is an autosomal recessive disorder characterized by severe limb defects and moderate to severe hearing loss. There is nearly complete palmar dorsalization, with circumferential fingernails (Shamseldin et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformation, see SHFM1 (183600). [from OMIM]

Clinical features

From HPO
Tapered finger
MedGen UID:
98098
•Concept ID:
C0426886
•
Finding
The gradual reduction in girth of the finger from proximal to distal.
See: Feature record | Search on this feature
Split foot
MedGen UID:
140919
•Concept ID:
C0432028
•
Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
See: Feature record | Search on this feature
Split hand
MedGen UID:
397570
•Concept ID:
C2699510
•
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
See: Feature record | Search on this feature
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
See: Feature record | Search on this feature
Frontal bossing
MedGen UID:
67453
•Concept ID:
C0221354
•
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSplit hand-foot malformation 1 with sensorineural hearing loss
Follow this link to review classifications for Split hand-foot malformation 1 with sensorineural hearing loss in Orphanet.

Recent clinical studies

Etiology

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.
Ramos-Zaldívar HM, Martínez-Irías DG, Espinoza-Moreno NA, Napky-Rajo JS, Bueso-Aguilar TA, Reyes-Perdomo KG, Montes-Gambarelli JA, Euceda IM, Ponce-Barahona AF, Gámez-Fernández CA, Moncada-Arita WA, Palomo-Bermúdez VA, Jiménez-Faraj JE, Hernández-Padilla AG, Olivera DA, Robertson KJ, Leiva-Sanchez LA, Herrera-Paz EF
J Med Case Rep 2016 Jun 13;10(1):156. doi: 10.1186/s13256-016-0921-8. PMID: 27291887Free PMC Article

Diagnosis

A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.
Ramos-Zaldívar HM, Martínez-Irías DG, Espinoza-Moreno NA, Napky-Rajo JS, Bueso-Aguilar TA, Reyes-Perdomo KG, Montes-Gambarelli JA, Euceda IM, Ponce-Barahona AF, Gámez-Fernández CA, Moncada-Arita WA, Palomo-Bermúdez VA, Jiménez-Faraj JE, Hernández-Padilla AG, Olivera DA, Robertson KJ, Leiva-Sanchez LA, Herrera-Paz EF
J Med Case Rep 2016 Jun 13;10(1):156. doi: 10.1186/s13256-016-0921-8. PMID: 27291887Free PMC Article
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
Wang X, Xin Q, Li L, Li J, Zhang C, Qiu R, Qian C, Zhao H, Liu Y, Shan S, Dang J, Bian X, Shao C, Gong Y, Liu Q
Eur J Hum Genet 2014 Sep;22(9):1105-10. Epub 2014 Feb 5 doi: 10.1038/ejhg.2014.7. PMID: 24496061Free PMC Article
Newly recognized ectrodactyly/deafness syndrome.
Raas-Rothschild A, Aviram A, Ben-Ami T, Berger I, Katznelson MB, Goodman RM
J Craniofac Genet Dev Biol 1989;9(2):121-7. PMID: 2794002

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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