Isolated congenital digital clubbing(DIGC)

MedGen UID:: 576901
•Concept ID:: C0345408
•: Congenital Abnormality

Synonyms:	ACROPACHY, HEREDITARY; CLUBBING OF DIGITS
SNOMED CT:	Hippocratic fingers (239055005); Acropachy (239055005); Hereditary acropachy (239055005); Hereditary clubbing (239055005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). 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. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	HPGD (4q34.1)

Monarch Initiative:	MONDO:0007343
OMIM®:	119900
Orphanet:	ORPHA217059

Definition

Digital clubbing is characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx (Myers and Farquhar, 2001). [from OMIM]

Clinical features

From HPO

Clubbing

MedGen UID:: 57692
•Concept ID:: C0149651
•: Anatomical Abnormality

Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.

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