Bohring-Opitz syndrome

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Bohring-Opitz syndrome2016-11-24T21:45:51+00:00

Bohring-Opitz syndrome

GENETICS

Definition A congenital malformation syndrome (OMIM:605039) characterised by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

It is phenotypically similar to C syndrome (OMIM:211750), which is caused by a heterozygous mutation of CD96 (OMIM:606037) on chromosome 3q13.

Molecular pathology Defects of ASXL1, which encodes a protein involved in transcriptional regulation, cause Bohring-Opitz syndrome. 

Synonyms Bohring syndrome, C-like syndrome, Opitz C syndrome, Opitz-trigonocephaly syndrome  Opitz disease, Opitz syndrome, Opitz trigonocephaly-like syndrome 

References http://www.uniprot.org/uniprot/Q8IXJ9

http://www.omim.org/entry/605039

 

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