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Adactylia, unilateral

MedGen UID:
113098
•Concept ID:
C0220660
•
Congenital Abnormality
Synonyms: Congenital absence/hypoplasia of fingers excluding thumb, unilateral; Terminal transverse defects of hand, unilateral
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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0007062
OMIM®: 102650
Orphanet: ORPHA973

Definition

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced. [from ORDO]

Clinical features

From HPO
Adactyly
MedGen UID:
116066
•Concept ID:
C0238591
•
Congenital Abnormality
The absence of all phalanges of all the digits of a limb and the associated soft tissues.
See: Feature record | Search on this feature
Short thumb
MedGen UID:
98469
•Concept ID:
C0431890
•
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
See: Feature record | Search on this feature
Abnormality of the nail
MedGen UID:
163115
•Concept ID:
C0853087
•
Anatomical Abnormality
Abnormality of the nail.
See: Feature record | Search on this feature
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
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