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Symphalangism with multiple anomalies of hands and feet

MedGen UID:
348859
Concept ID:
C1861391
Disease or Syndrome
Synonym: Learman syndrome
SNOMED CT: Symphalangism with multiple anomalies of hands and feet (732955001); Symphalangism with multiple anomalies of hands and feet syndrome (732955001); Learman syndrome (732955001)
 
Monarch Initiative: MONDO:0008510
OMIM®: 185750
Orphanet: ORPHA3246

Definition

An exceedingly rare syndrome described in one family and with characteristics of proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSymphalangism with multiple anomalies of hands and feet
Follow this link to review classifications for Symphalangism with multiple anomalies of hands and feet in Orphanet.

Recent clinical studies

Clinical prediction guides

Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A
Eur J Hum Genet 2018 Jun;26(6):876-885. Epub 2018 Mar 26 doi: 10.1038/s41431-018-0121-7. PMID: 29581481Free PMC Article

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