What is Craniometaphyseal Dysplasia ?
This rare disease is a genetic condition that leads to the overgrowth of the bones in the head, arms and legs.
When this overgrowth causes the bones to push against each other, or together, many of the symptoms of this syndrome are triggered.
Syndrome Synonyms:
CMD; Craniometaphyseal Dysplasia, Jackson Type; CMDJ;
What gene chance causes Craniometaphyseal Dysplasia?
Mutations to the ANKH, GJA1 genes are responsible for causing the syndrome.
The syndrome may be inherited in an autosomal dominant and recessive pattern respectfully. The recessive form of the condition leads to more severe symptoms, including those that may be life-threatening.
When inherited in an autosomal dominant pattern the symptoms of the syndrome tend to be much less severe.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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 Craniometaphyseal Dysplasia?
The overgrowth of bones in the head, arms, and legs causes many symptoms including widely spaced eyes, a wide nasal bridge, eyes that stick out further than the average, and a long head. Many individuals have different shaped bones in the legs and arms. A hardening of the bones is also a symptom.
These abnormalities in the development and growth of the bones can make eating and breathing difficult, especially in infants
Possible clinical traits/features:
Autosomal dominant inheritance, Macrocephaly, Sclerosis of skull base, Abnormality of the vertebral column, Abnormality of pelvic girdle bone morphology, Abnormality of the nasopharynx, Bony paranasal bossing, Calvarial osteosclerosis, Misalignment of teeth, Mixed hearing impairment, Metaphyseal widening, Mandibular prognathia, Nasal obstruction, Hypertelorism, Short stature, Facial palsy, Erlenmeyer flask deformity of the femurs, Club-shaped distal femur.
How is Craniometaphyseal Dysplasia diagnosed?
To find out if someone has a diagnosis of Craniometaphyseal Dysplasia, 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.
