U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ulnar/fibula ray defect-brachydactyly syndrome

MedGen UID:
324890
Concept ID:
C1837830
Disease or Syndrome
Synonym: Ulnar/fibular ray defect and brachydactyly
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0012063
OMIM®: 608571
Orphanet: ORPHA52056

Definition

A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUlnar/fibula ray defect-brachydactyly syndrome
Follow this link to review classifications for Ulnar/fibula ray defect-brachydactyly syndrome in Orphanet.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...