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Split-foot malformation-mesoaxial polydactyly syndrome(SFMMP)

MedGen UID:
1798910
Concept ID:
C5567487
Disease or Syndrome
Synonym: Split-foot malformation with mesoaxial polydactyly
SNOMED CT: SFMMP (split-foot malformation, mesoaxial polydactyly) syndrome (1172635005); Split-foot malformation, mesoaxial polydactyly syndrome (1172635005); Split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome (1172635005)
 
Gene (location): MAP3K20 (2q31.1)
 
Monarch Initiative: MONDO:0014816
OMIM®: 616890
Orphanet: ORPHA488232

Definition

Split-foot malformation with mesoaxial polydactyly (SFMMP) is characterized by a split-foot defect and nail abnormalities of the hands, as well as hearing loss in some patients (Spielmann et al., 2016). [from OMIM]

Clinical features

From HPO
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.
4-5 toe syndactyly
MedGen UID:
324891
Concept ID:
C1837836
Finding
Syndactyly with fusion of toes four and five.
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.
Mesoaxial hand polydactyly
MedGen UID:
893020
Concept ID:
C4021606
Anatomical Abnormality
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
1-2 toe syndactyly
MedGen UID:
869300
Concept ID:
C4023726
Congenital Abnormality
Syndactyly with fusion of toes one and two.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSplit-foot malformation-mesoaxial polydactyly syndrome

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