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Osteopathia striata-pigmentary dermopathy-white forelock syndrome

MedGen UID:
419711
Concept ID:
C2931096
Disease or Syndrome
Synonyms: Osteopathia striata associated with familial dermopathy and white forelock; Osteopathia striata with pigmentary dermopathy including white forelock; Whyte Murphy syndrome
SNOMED CT: Osteopathia striata, pigmentary dermopathy, white forelock syndrome (787408008); Whyte Murphy syndrome (787408008)
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.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Monarch Initiative: MONDO:0017197
Orphanet: ORPHA2779

Definition

Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteopathia striata-pigmentary dermopathy-white forelock syndrome
Follow this link to review classifications for Osteopathia striata-pigmentary dermopathy-white forelock syndrome in Orphanet.

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