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Ichthyosis-oral and digital anomalies syndrome

MedGen UID:
342457
•Concept ID:
C1850268
•
Disease or Syndrome
Synonyms: Ichthyosis tapered fingers midline groove up; Oral and digital anomalies with ichthyosis; Unusual facies, digital abnormalities, and ichthyosis
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009792
OMIM®: 258840
Orphanet: ORPHA2272

Definition

Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIchthyosis-oral and digital anomalies syndrome
Follow this link to review classifications for Ichthyosis-oral and digital anomalies syndrome in Orphanet.

Professional guidelines

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Diagnosis

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