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): Gene(s) directly associated with this condition or phenotype.	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.

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4-5 toe syndactyly

MedGen UID:: 324891
•Concept ID:: C1837836
•: Finding

Syndactyly with fusion of toes four and five.

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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 middel fingers as far as oligo- or monodactyl hands.

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Mesoaxial hand polydactyly