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Aurocephalosyndactyly

MedGen UID:
354732
Concept ID:
C1862380
Disease or Syndrome
Synonyms: Auralcephalosyndactyly; Kurczynski-Casperson syndrome
 
Monarch Initiative: MONDO:0007178
OMIM®: 109050
Orphanet: ORPHA1219

Clinical features

From HPO
4-5 toe syndactyly
MedGen UID:
324891
Concept ID:
C1837836
Finding
Syndactyly with fusion of toes four and five.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Short columella
MedGen UID:
341783
Concept ID:
C1857479
Finding
Reduced distance from the anterior border of the naris to the subnasale.

Supplemental Content

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