What is crouzon syndrome?
Crouzon Syndrome syndrome is a genetic condition that results in the premature fusion of the skull bones. This premature fusing causes most of the serious symptoms of the condition.
Crouzon syndrome occurs in around 1 in every 16 million live births. It is the most common craniosynostosis syndrome.
Syndrome Synonyms:
Craniofacial Dysostosis, Type I; CFD1 Crouzon Craniofacial Dysostosis
What gene change causes Crouzon syndrome?
Mutations to the FGFR2 gene, are considered to be responsible for the premature formation of the bones in affected individuals. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Crouzon syndrome?
The main symptoms of the syndrome include unique facial characteristics such as a sunken face, depressed nasal bridge, and a beak nose. Other facial characteristics include a large forehead, protruding eyes, and a narrow palate which may or may not be cleft.
Other health conditions associated with the syndrome include hearing loss, fused bones, and conditions that are a consequence of the bone fusion including sleep apnea, and breathing obstructions.
Possible clinical traits/features:
Acanthosis nigricans, Visual impairment, Hypopigmented skin patches, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, High forehead, Optic atrophy, Melanocytic nevus, Autosomal dominant inheritance, Shallow orbits, Seizure, Choanal atresia, Arnold-Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Abnormal sacrum morphology, Abnormal palate morphology, Abnormality of the nasopharynx, Abnormality of the cervical spine, Convex nasal ridge, Brachycephaly, Sagittal craniosynostosis, Sleep apnea, Frontal bossing, Ptosis, Respiratory failure, Strabismus, Intellectual disability, Iris coloboma, Lambdoidal craniosynostosis, Migraine, Increased intracranial pressure, Mandibular prognathia, Craniosynostosis, Craniofacial dysostosis, Abnormal facial shape, Coronal craniosynostosis, Atresia of the external auditory canal, Dental crowding, Conductive hearing impairment, Conjunctivitis.
How is it diagnosed?
To find out if someone has a diagnosis of Crouzon 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.
