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Craniofrontonasal dysplasia (
craniofrontonasal syndrome,
craniofrontonasal dysostosis, CFND) is a very rare X-linked
malformation syndrome caused by mutations...
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Hypertelorism can also be seen in
Apert syndrome,
Autism spectrum disorder,
craniofrontonasal dysplasia,
Noonan syndrome, neurofibromatosis,
LEOPARD syndrome, Crouzon...
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siblings and, most of the time,
parents are carriers. See Genetics.
Craniofrontonasal dysplasia (CFND) is a rare type of FND with X
linked inheritance....
- system.
Mutations in this
protein are
responsible for most
cases of
craniofrontonasal syndrome. EFNB1 has been
shown to
interact with SDCBP. GRCh38: Ensembl...
- Axenfeld-Rieger syndrome,
Goldenhar syndrome (a.k.a.
hemifacial microsomia),
craniofrontonasal syndrome,
congenital melanocytic nevus, melanoma, and
certain congenital...
- microsomia,
micrognathism (chin so
small it
causes health problems),
craniofrontonasal dysplasias, craniosynostosis, as well as
airway obstruction in babies...
-
syndrome Craniofaciocervical osteoglyphic dysplasia Craniofrontonasal dysplasia Craniofrontonasal syndrome Teebi type
Craniometaphyseal dysplasia dominant...
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morphogenesis and that
defects in the
human gene (EFNB1) lead to
Craniofrontonasal Syndrome (CFNS). A
different project has
connected the cytoplasmic...
- (Concept Id: C1970027)". www.ncbi.nlm.nih.gov.
Retrieved 2023-07-02. "
Craniofrontonasal dysplasia-Poland
anomaly syndrome (Concept Id: CN199598) - MedGen...
-
junction communication at
ectopic Eph/ephrin
boundaries underlies craniofrontonasal syndrome". PLOS Biology. 4 (10): e315. doi:10.1371/journal.pbio.0040315...
