Craniodiaphyseal Dysplasia, Autosomal Dominant; Cdd

Description

Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Craniodiaphyseal Dysplasia, Autosomal Dominant; Cdd

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge
  • Macrocephaly
  • Optic atrophy
  • Respiratory distress
  • Headache
  • Mandibular prognathia

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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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Craniodiaphyseal Dysplasia, Autosomal Dominant; Cdd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
SOST Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SOST
Specificity
100 %
Genes
100 %
SOST Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SOST
Specificity
100 %
Genes
100 %
SOST Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SOST
Specificity
100 %
Genes
100 %
SOST Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SOST
Specificity
100 %
Genes
100 %
SOST. Complete sequencing.

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

SOST
Specificity
100 %
Genes
100 %
Sclerosteosis (sequence analysis of SOST gene).

By CGC Genetics (Portugal).

SOST
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IIIB; USH3B VISCERAL MYOPATHY; VSCM RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP

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