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Craniometaphyseal dysplasia, autosomal dominant(CMDD)

MedGen UID:
338945
Concept ID:
C1852502
Disease or Syndrome
Synonyms: Autosomal recessive craniometaphyseal dysplasia; CMDD; craniometaphyseal dysplasia; Craniometaphyseal dysplasia Jackson type
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: ANKH
Cytogenetic location: 5p15.2
OMIM: 123000

Disease characteristics

Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, wide-set eyes 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 hearing loss). 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. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ernst Reichenberger  |  I-Ping Chen   view full author information

Additional descriptions

From OMIM
Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant and autosomal recessive (CMDR; 218400) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.  http://www.omim.org/entry/123000
From GHR
Craniometaphyseal dysplasia is a rare condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal. Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent (non-erupting) teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. There are two types of craniometaphyseal dysplasia, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types. Autosomal recessive craniometaphyseal dysplasia is typically more severe than the autosomal dominant form.  http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia

Clinical features

Nasal obstruction
MedGen UID:
10266
Concept ID:
C0027429
Finding
Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY.
Abnormality of the teeth
MedGen UID:
424982
Concept ID:
CN000160
Finding
Any abnormality of the `teeth` (FMA:12516).
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Mixed hearing impairment
MedGen UID:
504437
Concept ID:
CN000383
Finding
A type of hearing loss resulting from a combination of `conductive hearing impairment` (HP:0000405) and `sensorineural hearing impairment` (HP:0000407).
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Metaphyseal widening
MedGen UID:
344455
Concept ID:
C1855248
Finding
A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748).
Abnormality of the vertebral column
MedGen UID:
446382
Concept ID:
CN000867
Finding
Any abnormality of the `vertebral column` (FMA:13478).
Abnormality of pelvic girdle bone morphology
MedGen UID:
428305
Concept ID:
CN002405
Finding
An abnormality of the `bony pelvic girdle` (FMA:61412), which is a ring of bones connecting the vertebral column to the femurs.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.

Recent clinical studies

Etiology

Prontera P, Rogaia D, Sobacchi C, Tavares VL, Mazzotta G, Passos-Bueno MR, Donti E
Am J Med Genet A 2011 May;155A(5):1106-8. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33826. [Epub ahead of print] PMID: 21465646

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