Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

MedGen UID:: 348658
•Concept ID:: C1860605
•: Disease or Syndrome

Synonyms:	Bork Stender Schmidt syndrome; Bork syndrome; Tricho-retino-dento-digital syndrome; Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
SNOMED CT:	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (719910004); Tricho-retino-dento-digital syndrome (719910004); Bork syndrome (719910004)
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:0008622
OMIM®:	191482
Orphanet:	ORPHA1264

Definition

An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. [from SNOMEDCT_US]

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Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Generalized abnormality of skin
        Ectodermal dysplasia
        Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

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Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

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