What is Craniofrontonasal Syndrome?
Craniofrontonasal syndrome is a rare genetic condition with an incidence of 1:100,000-1:120,000.
The main symptom of this rare disease is the premature fusing together of the bones of the skull. This cause the unique facial features associated with the syndrome.
Syndrome Synonyms:
CFND Craniofrontonasal Dysostosis; Craniofrontonasal Dysplasia; CFND
What gene change causes Craniofrontonasal Syndrome?
The syndrome is an X-linked recessive genetic disorder due to alteration in the EFNB1 gene. It affects females more frequently and more severely than males. Most males are not diagnosed with the condition. Due to the nature of the genetic inheritance of this X-linked disorder fathers can not pass it to their sons.
Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
What are the main symptoms of Craniofrontonasal Syndrome?
Premature closure of the bones of the skull, as it is developing, causes most of the unique facial and head characteristics of the syndrome.
These include facial asymmetry, a slit in the top of the nose, a broad nose, widely spaced eyes, eyes that look in different directions, a webbed neck, and sloping shoulders.
Sometimes there is an impact on brain development and mild intellectual disability may be a potential secondary symptom.
Possible clinical traits/features:
Muscular hypotonia, Hemihypotrophy of lower limb, Low posterior hairline, Intellectual disability, Midline defect of the nose, Pectus excavatum, Joint laxity, Joint hypermobility, Toe syndactyly, Plagiocephaly, Hand polydactyly, Nystagmus, Sensorineural hearing impairment, Short neck, Thickened nuchal skin fold, Shawl scrotum, Widow’s peak, Cleft palate, Oral cleft, Congenital pseudoarthrosis of the clavicle, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the nipples, Axillary pterygium, Broad hallux, Bifid nasal tip, Brachycephaly, Wide nasal bridge, Abnormality of the clavicle, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal palate morphology, Abnormality of the dentition, Abnormality of the shoulder, Abnormality of the rib cage, Hypertelorism, High anterior hairline, Hypospadias, Hypoplasia of the corpus callosum, Fragile nails, Cognitive impairment, Global developmental delay, Short stature, Hypoplastic nasal tip, Craniosynostosis, Cryptorchidism, Coronal craniosynostosis.
How is it diagnosed?
To find out if someone has a diagnosis of Craniofrontonasal Syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
