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Sugarman brachydactyly

MedGen UID:
1777636
Concept ID:
C5399870
Congenital Abnormality
Synonyms: Brachydactyly of the hands and feet with duplication of the first toes; Brachydactyly with major proximal phalangeal shortening
SNOMED CT: Sugarman brachydactyly (1187132007); Sugarman Hager Kulik syndrome (1187132007)
 
Monarch Initiative: MONDO:0010087
OMIM®: 272150
Orphanet: ORPHA498602

Definition

A rare genetic congenital limb malformation with characteristics of brachydactyly of fingers with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. [from SNOMEDCT_US]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short proximal phalanx of finger
MedGen UID:
348659
Concept ID:
C1860606
Congenital Abnormality
Congenital hypoplasia of one or more proximal phalanx of finger.
Proximal placement of hallux
MedGen UID:
866759
Concept ID:
C4021110
Anatomical Abnormality
Proximal mislocalization of the big toe from its normal position.
Symphalangism affecting the proximal phalanges of the hand
MedGen UID:
869749
Concept ID:
C4024178
Anatomical Abnormality
Double first metacarpals
MedGen UID:
870658
Concept ID:
C4025112
Anatomical Abnormality
Duplication of the metacarpal I bones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSugarman brachydactyly

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