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Acrootoocular syndrome

MedGen UID:
337882
Concept ID:
C1849661
Congenital Abnormality; Disease or Syndrome
Synonyms: AOO SYNDROME; Pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
SNOMED CT: Acro-oto-ocular syndrome (720410001); Acrootoocular syndrome (720410001); Pseudopapilledema, blepharophimosis and hand anomaly syndrome (720410001); Pseudopapilloedema, blepharophimosis and hand anomaly syndrome (720410001)
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).
 
Monarch Initiative: MONDO:0009920
OMIM®: 264475
Orphanet: ORPHA2980

Definition

A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrootoocular syndrome
Follow this link to review classifications for Acrootoocular syndrome in Orphanet.

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