-
Craniofrontonasal dysplasia (
craniofrontonasal syndrome,
craniofrontonasal dysostosis, CFND) is a very rare X-linked
malformation syndrome caused by mutations...
-
Hypertelorism can also be seen in
Apert syndrome,
Autism spectrum disorder,
craniofrontonasal dysplasia,
Noonan syndrome, neurofibromatosis,
LEOPARD syndrome, Crouzon...
- system.
Mutations in this
protein are
responsible for most
cases of
craniofrontonasal syndrome. EFNB1 has been
shown to
interact with SDCBP. GRCh38: Ensembl...
-
Cornelia de
Lange syndrome Craniofacial dysplasia-osteopenia
syndrome Craniofrontonasal syndrome Craniosynostosis-anal anomalies-porokeratosis
syndrome Crouzon...
-
siblings and, most of the time,
parents are carriers. See Genetics.
Craniofrontonasal dysplasia (CFND) is a rare type of FND with X
linked inheritance....
-
syndrome (faciodigitogenital syndrome), Rubenstein-Taybi syndrome,
craniofrontonasal dysplasia,
Hunter Carpenter McDonald Syndrome,
Naguib Syndrome, Saito-Kuba-Tsuruta...
-
syndrome Craniofaciocervical osteoglyphic dysplasia Craniofrontonasal dysplasia Craniofrontonasal syndrome Teebi type
Craniometaphyseal dysplasia dominant...
-
syndrome 135900 ARID1B, SOX11, ARID2
Cohen syndrome 216550 VPS13B
Craniofrontonasal dysplasia 304110 EFNB1
Dysgnathia complex 202650 Ectrodactyly–ectodermal...
- microsomia,
micrognathism (chin so
small it
causes health problems),
craniofrontonasal dysplasias, craniosynostosis, as well as
airway obstruction in babies...
- (Concept Id: C1970027)". www.ncbi.nlm.nih.gov.
Retrieved 2023-07-02. "
Craniofrontonasal dysplasia-Poland
anomaly syndrome (Concept Id: CN199598) - MedGen...
