Blepharofacioskeletal syndrome
Symptoms of Blepharofacioskeletal syndrome
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of connective tissue
- Hernia of the abdominal wall
- Abnormality of head or neck
- Bifid uvula
- Blepharophimosis
- Broad forehead
- Cleft palate
- Epicanthus
- High anterior hairline
- Hypoplasia of the zygomatic bone
- Hypoplastic mandible ...
Genetics of Blepharofacioskeletal syndrome
Modes of inheritance:
Autosomal dominant inheritance (OMIM, Orphanet)
Autosomal dominant inheritance (HPO)
...Source: GTR (NCBI/NIH)1
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Names and Terminology
Synonyms:
CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS ; OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS ; Richieri-Costa Guion Almeida Rodini syndrome ; SCHILBACH-ROTT SYNDROME
...Source: GTR (NCBI
...2
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References
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1834038/
- ibid.
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