Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

MedGen UID:: 1800225
•Concept ID:: C5568802
•: Disease or Syndrome

Synonyms:	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome; autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
SNOMED CT:	Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (1187115008)
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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0018777
Orphanet:	ORPHA476119

Definition

A rare genetic syndrome with limb malformations as a major feature with characteristics of preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray and syndactyly between digits I and II in the hands, large or duplicated hallux and syndactyly between toes I and II in the feet. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormal skin adnexa morphology
    - Abnormal hair morphology
      - Abnormal hair quantity
        Hypertrichosis
        Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Recent clinical studies

Prognosis

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.

Enokizono T, Ohto T, Tanaka R, Tanaka M, Suzuki H, Sakai A, Imagawa K, Fukushima H, Iwabuti A, Fukushima T, Sumazaki R, Uehara T, Takenouchi T, Kosaki K
Am J Med Genet A 2017 Oct;173(10):2821-2825. Epub 2017 Aug 16 doi: 10.1002/ajmg.a.38405. PMID: 28815892

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Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome

Definition

Term Hierarchy

Recent clinical studies

Prognosis

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