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Fraser syndrome

DA: 655




Developmental anomaly information

Definition: Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. Fraser syndrome can be caused by mutation in the FRAS1 gene or in the FREM2 gene .


Synonyms:

  • CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED


Developmental anomaly parent: (empty)

Topology: Human body

System: Human body

Developmental anomaly category: Malformation Syndrome (malformative syndrome)

Case records MDB402
Links

OMIM: 219000

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :



Last modified: 2008-12-15 20:24:38 by farideh

Created: 2008-08-29 21:56:25 by farideh



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