CDD
MCID: CRN220
MIFTS: 25

Craniodiaphyseal Dysplasia, Autosomal Dominant (CDD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Craniodiaphyseal Dysplasia, Autosomal Dominant

MalaCards integrated aliases for Craniodiaphyseal Dysplasia, Autosomal Dominant:

Name: Craniodiaphyseal Dysplasia, Autosomal Dominant 57 29 13 6
Schaefer Stein Oshman Syndrome 74 72
Cdd 57 74
Craniodiaphyseal Dysplasia Autosomal Dominant 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
progressive disorder
often results in death in childhood


HPO:

32
craniodiaphyseal dysplasia, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset progressive


Classifications:



External Ids:

OMIM 57 122860
MedGen 42 C2675746
UMLS 72 C2931270

Summaries for Craniodiaphyseal Dysplasia, Autosomal Dominant

OMIM : 57 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). (122860)

MalaCards based summary : Craniodiaphyseal Dysplasia, Autosomal Dominant, also known as schaefer stein oshman syndrome, is related to schaefer stein oshman syndrome and craniodiaphyseal dysplasia. An important gene associated with Craniodiaphyseal Dysplasia, Autosomal Dominant is SOST (Sclerostin). Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 74 Craniodiaphyseal dysplasia autosomal dominant: A severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina. Respiratory obstruction due to choanal stenosis compromises the clinical outcomes of affected patients.

Related Diseases for Craniodiaphyseal Dysplasia, Autosomal Dominant

Diseases in the Craniodiaphyseal Dysplasia family:

Craniodiaphyseal Dysplasia, Autosomal Dominant

Diseases related to Craniodiaphyseal Dysplasia, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schaefer stein oshman syndrome 12.8
2 craniodiaphyseal dysplasia 11.9
3 childhood disintegrative disease 11.6
4 central centrifugal cicatricial alopecia 10.3
5 diarrhea 10.3
6 leukemia, acute myeloid 10.2
7 onchocerciasis 10.2
8 porphyria 10.2
9 47,xyy 10.2

Graphical network of the top 20 diseases related to Craniodiaphyseal Dysplasia, Autosomal Dominant:



Diseases related to Craniodiaphyseal Dysplasia, Autosomal Dominant

Symptoms & Phenotypes for Craniodiaphyseal Dysplasia, Autosomal Dominant

Human phenotypes related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 mandibular prognathia 32 HP:0000303
4 hearing impairment 32 HP:0000365
5 increased intracranial pressure 32 HP:0002516
6 craniofacial hyperostosis 32 HP:0004493
7 depressed nasal bridge 32 HP:0005280
8 wide nasal bridge 32 HP:0000431
9 optic atrophy 32 HP:0000648
10 short stature 32 HP:0004322
11 concave nasal ridge 32 HP:0011120
12 progressive visual loss 32 HP:0000529
13 headache 32 HP:0002315
14 elevated circulating parathyroid hormone level 32 HP:0003165
15 papilledema 32 HP:0001085
16 facial diplegia 32 HP:0001349
17 choanal stenosis 32 HP:0000452
18 elevated alkaline phosphatase 32 HP:0003155
19 craniofacial osteosclerosis 32 HP:0005464
20 cortical sclerosis 32 HP:0005652
21 diaphyseal sclerosis 32 HP:0003034
22 thickened ribs 32 HP:0000900

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
increased intracranial pressure
headaches

Skeletal:
hyperostosis
increased bone mineral density

Head And Neck Face:
facial diplegia
prominent mandible
leonine facies

Skeletal Limbs:
diaphyseal sclerosis
undertubulation of the long bones of the legs

Laboratory Abnormalities:
increased serum parathyroid hormone
increased serum alkaline phosphatase

Respiratory Nasopharynx:
difficulty breathing through the nostrils
respiratory obstruction

Head And Neck Eyes:
hypertelorism
papilledema
optic nerve atrophy
visual loss, progressive

Growth Height:
short stature

Skeletal Skull:
hyperostosis
osteosclerosis
facial bone hyperplasia
obliteration of the sinuses, middle ear cavities, internal acoustic canals, and optic nerve canals
cortical sclerosis of facial bones
more
Head And Neck Nose:
choanal stenosis
saddle nose
broad flat nasal bridge

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs
sclerotic ribs

Head And Neck Ears:
hearing loss, progressive

Clinical features from OMIM:

122860

Drugs & Therapeutics for Craniodiaphyseal Dysplasia, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Craniodiaphyseal Dysplasia, Autosomal Dominant

Genetic Tests for Craniodiaphyseal Dysplasia, Autosomal Dominant

Genetic tests related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Craniodiaphyseal Dysplasia, Autosomal Dominant 29 SOST

Anatomical Context for Craniodiaphyseal Dysplasia, Autosomal Dominant

MalaCards organs/tissues related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

41
Bone

Publications for Craniodiaphyseal Dysplasia, Autosomal Dominant

Articles related to Craniodiaphyseal Dysplasia, Autosomal Dominant:

# Title Authors PMID Year
1
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. 8 71
21221996 2011
2
A boy with severe craniodiaphyseal dysplasia and apparently normal mother. 8 71
17853455 2007
3
Craniodiaphyseal dysplasia. 8
2277386 1990
4
Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia. 8
3802557 1986
5
[Camurati-Engelmann disease]. 8
13760661 1961

Variations for Craniodiaphyseal Dysplasia, Autosomal Dominant

ClinVar genetic disease variations for Craniodiaphyseal Dysplasia, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SOST SOST, VAL21LEU single nucleotide variant Pathogenic
2 SOST NM_025237.3(SOST): c.61G> A (p.Val21Met) single nucleotide variant Pathogenic rs387907169 17:41836049-41836049 17:43758681-43758681

UniProtKB/Swiss-Prot genetic disease variations for Craniodiaphyseal Dysplasia, Autosomal Dominant:

74
# Symbol AA change Variation ID SNP ID
1 SOST p.Val21Leu VAR_065766
2 SOST p.Val21Met VAR_065767 rs387907169

Expression for Craniodiaphyseal Dysplasia, Autosomal Dominant

Search GEO for disease gene expression data for Craniodiaphyseal Dysplasia, Autosomal Dominant.

Pathways for Craniodiaphyseal Dysplasia, Autosomal Dominant

GO Terms for Craniodiaphyseal Dysplasia, Autosomal Dominant

Sources for Craniodiaphyseal Dysplasia, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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