Craniometaphyseal Dysplasia, Autosomal Dominant; Cmdd

Description

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 ) 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniometaphyseal Dysplasia, Autosomal Dominant; Cmdd

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge
  • Macrocephaly
  • Blindness
  • Prominent forehead
  • Mandibular prognathia
  • Conductive hearing impairment

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Craniometaphyseal Dysplasia, Autosomal Dominant; Cmdd Is also known as cmdj, cmd, craniometaphyseal dysplasia, jackson type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Craniometaphyseal Dysplasia, Autosomal Dominant; Cmdd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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100 %
ANKH Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ANKH
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100 %
Genes
100 %
ANKH Sequence Analysis.

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Specificity
100 %
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100 %
ANKH Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ANKH
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

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Specificity
1 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

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Specificity
1 %
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Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

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Specificity
1 %
Genes
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ANKH. Sequencing of the exons 9 and 10.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ANKH
Specificity
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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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