Clinical characteristics.

Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, fullness of the paranasal tissue, hypertelorism with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.

Diagnosis/testing.

Diagnosis is based on clinical and radiographic findings that include diffuse hyperostosis of the cranial base, cranial vault, facial bones, and mandible as well as widening and radiolucency of metaphyses in long bones. Identification of a heterozygous pathogenic variant in ANKH by molecular genetic testing can confirm the diagnosis if clinical features are inconclusive.

Management.

Treatment of manifestations: Treatment for feeding and respiratory issues per craniofacial team; surgical intervention to reduce compression of cranial nerves and the brain stem / spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Hearing aids; vision aids and surgical treatment for optic nerve impaction; speech therapy; surgical intervention for malocclusion.

Surveillance: Evaluation for feeding and respiratory issues at least annually; neurologic evaluation for signs and symptoms of narrowing of the cranial foramina including the foramen magnum at least annually; hearing and ophthalmologic assessment at least annually.

Evaluation of relatives at risk: It is appropriate to evaluate relatives at risk in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures; early diagnosis of at-risk relatives may be beneficial for management of complications from progressive hyperostosis.

Genetic counseling.

By definition, AD-CMD is inherited in an autosomal dominant manner. Most individuals diagnosed with AD-CMD have an affected parent. The proportion of individuals with AD-CMD caused by a de novo pathogenic variant is approximately 30%. Each child of an individual with AD-CMD has a 50% chance of inheriting an AD-CMD-related pathogenic variant. Once the AD-CMD-related pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Suggestive Findings

AD-CMD should be suspected in individuals with the following clinical, radiographic, and laboratory features and family history.

Clinical features

• Obstruction of the nasal sinuses
• Characteristic facial features. Wide nasal bridge, fullness of the paranasal tissue, hypertelorism with an increase in bizygomatic width, and prominent mandible (See Figure 1.)
• Dolichocephaly due to fronto-occipital hyperostosis

Figure 1.

Facial features of a girl age 13 years with AD-CMD Reprinted with permission from Reichenberger et al [2001]

Radiographic features

• Skull. Sclerosis of the cranial base may begin in infancy (see Figure 2). Increasing diffuse hyperostosis of the cranial base leads to narrowing of the foramen magnum. Diffuse hyperostosis of cranial vault, facial bones, and mandible increases as the condition progresses [Lamazza et al 2009, Juergens et al 2011] with obstruction of the cranial foramina.
• Long bones. Metaphyseal widening (described as Erlenmeyer flask- or club-shaped) with thinned cortex and decreased bony density in the metaphyses can be detected early in life. Metaphyseal changes typically develop during early childhood. Metaphyseal flaring is most prominent in the distal femur and tibia (see Figure 3). Diaphyseal sclerosis/hyperostosis can be present in infancy but disappears with age. Temporary signs of rickets have been reported in some infants [Wu et al 2016, Soto Barros et al 2023]. Bone density of the diaphyses is normal in children and adults; cortical thickness can be increased.
• Ribs and clavicles (medial portion [i.e., endochondral]) can be sclerotic in younger children but show normal bone density by age five years [Richards et al 1996].

Figure 2.

Increased thickness of craniofacial bones in a child age three years with AD-CMD

Figure 3.

Metaphyseal widening of long bones, specifically prominent at the knee joint

Laboratory features

• Blood calcium and phosphate concentrations are within normal limits [Cheung et al 1997, Soto Barros et al 2023] or decreased [Sheppard et al 2003, Wu et al 2016].
• Serum alkaline phosphatase activity is elevated [Sheppard et al 2003, Wu et al 2016, Soto Barros et al 2023].
• Parathyroid hormone level is normal or can be slightly/transiently elevated [Fanconi et al 1988, Cheung et al 1997, Sheppard et al 2003, Wu et al 2016, Soto Barros et al 2023].
• Osteocalcin is decreased [Yamamoto et al 1993] or increased [Wu et al 2021].

Note: Findings are based on very limited data. Variability of the described parameters can be expected. Abnormal parameters may be transient.

Family history is consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of AD-CMD is established in a proband with characteristic craniofacial hyperostosis and flaring and undertrabeculation of long bone metaphyses and/or a heterozygous pathogenic (or likely pathogenic) variant in ANKH identified by molecular genetic testing (see Table 1).

Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of a heterozygous ANKH variant of uncertain significance does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include a combination of gene-targeted testing (single gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing). Gene-targeted testing requires that the clinician determine which gene(s) are likely involved (see Option 1), whereas comprehensive genomic testing does not (see Option 2).

Clinical Description

Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is often detected within the first few weeks of life because of breathing or feeding problems resulting from choanal stenosis (narrowing of nasal sinus) [Haverkamp et al 1996, Cheung et al 1997, Taggart et al 2014, Twigg et al 2015].

Early stages of AD-CMD can be radiographically recognized as sclerosis of the cranial base [Singh et al 2016]. Hyperostosis of the cranial base, cranial vault, facial bones, and mandible occurs gradually. Overgrowth of the lower jaw (mandibular hyperostosis) and midface retrusion are often seen [Hayashibara et al 2000, Chan et al 2021].

Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural) as cranial hyperostosis and sclerosis progress [Beighton et al 1979, Richards et al 1996, Lee et al 2023]. Nasal obstruction and mandibular hyperostosis affect speech modulation.

Associated Chiari I malformation can lead to severe headaches [Tanaka et al 2013].

Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone [Chen et al 2014].

Malocclusion and anterior cross-bite can be caused by jaw overgrowth [Hayashibara et al 2000].

Life expectancy. Individuals with typical uncomplicated AD-CMD have normal life expectancy. Expressivity in simplex cases (i.e., single occurrence in a family) of CMD is highly variable.

Genotype-Phenotype Correlations

No clinically relevant genotype-phenotype correlation has been reported.

The phenotypic severity (expressivity) in AD-CMD is variable even among affected members of the same family.

Penetrance

Penetrance is 100%.

Nomenclature

AD-CMD was previously referred to as "craniometaphyseal dysplasia-Jackson type."

Prevalence

AD-CMD is very rare; there are likely only a few thousand affected individuals worldwide.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with AD-CMD, the evaluations summarized in Table 4 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

There is no cure for AD-CMD. Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 5).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 6 are recommended.

Evaluation of Relatives at Risk

It is appropriate to evaluate relatives at risk in order to identify as early as possible those who would benefit from initiation of treatment and preventive measures. Early diagnosis of at-risk relatives may be beneficial for management of complications from progressive hyperostosis. Evaluations can include:

• Molecular genetic testing if the pathogenic variant in the family is known;
• Clinical evaluation and cranial and long bone radiographs if the pathogenic variant in the family is not known.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Other

Calcitonin has been thought to be effective because of its inhibitory effect on bone turnover. However, previous case reports found calcitonin therapy to be ineffective in treating hyperplasia of craniofacial bones in persons with CMD [Fanconi et al 1988, Haverkamp et al 1996].

Calcitriol with a low-calcium diet to stimulate bone resorption by promoting osteoclast formation has been reported to improve facial paralysis but has no effect on metaphyseal deformity [Key et al 1988, Wu et al 2016]. Calcitriol may be used in infants to resolve secondary hyperparathyroidism during treatment of rickets [Soto Barros et al 2023].

Acetazolamide has been suggested for treatment of disorders with increased bone mineral density. González-Rodríguez et al [2016] reported acetazolamide use in an individual with a phenotype similar to CMD, but diagnosis of AD-CMD was not confirmed.

Mode of Inheritance

By definition, autosomal dominant craniometaphyseal dysplasia (AD-CMD) is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

• Most individuals diagnosed with AD-CMD have an affected parent.
• Some individuals diagnosed with AD-CMD have the disorder as the result of a de novo pathogenic variant. The proportion of individuals with AD-CMD caused by a de novo pathogenic variant is approximately 30% [E Reichenberger, unpublished data].
• If a molecular diagnosis has been established in the proband and the proband appears to be the only affected family member (i.e., a simplex case), molecular genetic testing is recommended for the parents of the proband to evaluate their genetic status and inform recurrence risk assessment. If a molecular diagnosis has not been established in the proband, clinical evaluation and cranial and long bone radiographs are recommended for the parents of the proband.
  Note: A proband may appear to be the only affected family member because of failure to recognize the disorder in family members. Therefore, de novo occurrence of an ANKH pathogenic variant in the proband cannot be confirmed without appropriate clinical evaluation of the parents and/or molecular genetic testing (to establish that neither parent is heterozygous for the ANKH pathogenic variant).
• If a molecular diagnosis has been established in the proband and the pathogenic variant identified in the proband is not identified in either parent (and parental identity testing has confirmed biological maternity and paternity), the following possibilities should be considered:
  • The proband has a de novo pathogenic variant.
  • The proband inherited a pathogenic variant from a parent with gonadal (or somatic and gonadal) mosaicism. Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.

Sibs of a proband. The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:

• If a parent of the proband is affected and/or is known to have the pathogenic variant identified in the proband, the risk to the sibs is 50%. Because penetrance of AD-CMD is 100%, sibs who inherit a pathogenic variant will develop the phenotype, although the severity of the phenotype may vary among affected family members.
• If the proband has a known ANKH pathogenic variant that cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is estimated to be 1% because of the possibility of parental gonadal mosaicism [Kato et al 2013].
• If the parents are clinically unaffected but their genetic status is unknown, the risk to the sibs of a proband appears to be low but still increased over that of the general population because of the possibility of parental gonadal mosaicism.

Offspring of a proband. Each child of an individual with AD-CMD has a 50% chance of inheriting an AD-CMD-related pathogenic variant.

Other family members. The risk to other family members depends on the status of the proband's parents: If a parent is affected, the parent's family members may be at risk.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected.

Prenatal Testing and Preimplantation Genetic Testing

Once the AD-CMD-related pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

ANKH encodes the mineralization regulator ANKH (ANKH; also called progressive ankylosis protein homolog), a multispan transmembrane protein located at the outer cell membrane that transports small molecules such as citrate and ATP into the extracellular matrix [Szeri et al 2022]. The protein sequence of ANKH is highly conserved among vertebrate animals.

In previous literature, ANKH was described as a transporter of intracellular pyrophosphate, a regulator of matrix (bone) mineralization.

Mechanism of disease causation. Most common pathogenic variants result in one-amino-acid deletions, while others are missense or small in-frame deletions and insertions [Nürnberg et al 2001, Reichenberger et al 2001, Kornak et al 2010, Zajac et al 2010, Dutra et al 2012]. Most pathogenic variants occur in the nucleotide region encoding presumed intracellular domains of the transmembrane loop structure. Based on findings in knockout and knock-in mice studies, ANKH pathogenic variants are thought to result in a dominant-negative gain of function as well as loss of function of small molecule transport. The shared phenotype between these murine models is explained by the rapid degradation of pathogenic ANKH protein [Kanaujiya et al 2018]. To date, no other information on mechanism is available.

Revision History

• 14 August 2025 (sw) Comprehensive update posted live
• 11 June 2020 (sw) Comprehensive update posted live
• 15 January 2015 (me) Comprehensive update posted live
• 2 November 2010 (me) Comprehensive update posted live
• 27 August 2007 (me) Review posted live
• 25 May 2007 (er) Original submission

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