Synonym(s): - CFND - CFNS - Craniofrontonasal syndrome
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant		External references: 1 OMIM reference - See 1 MeSH reference: C536456
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
EFNB1	P98172	300035

- Bifid tip / cleft nose / supernumerary nose
- Brachycephaly / flat occiput
- Broad nose / nasal bridge
- Craniostenosis / craniosynostosis / sutural synostosis
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Flattened nose
- Frontal bossing / prominent forehead
- Hypertelorism

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal hair texture / hair dysplasia
- Broad / bifid big toe
- Camptodactyly of fingers
- Clavicle absent / abnormal
- Cleft lip and palate
- Clinodactyly of fifth finger
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- High hair line (front) / widow peak
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low hair line (back)
- Microcephaly
- Narrow / sloping shoulders
- Plagiocephaly
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly
- Wide space between 1st-2nd toes
- Woolly / frizzy hair

- Corpus callosum / septum pellucidum total / partial agenesis
- Diaphragmatic hernia / defect / agenesis
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Pectus excavatum
- Shawl scrotum