MCID: OST114
MIFTS: 14

Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

MalaCards integrated aliases for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome:

Name: Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
osteosclerosis-developmental delay-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

MalaCards based summary : Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome An important gene associated with Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone, and related phenotypes are brachycephaly and macrocephaly

Related Diseases for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Symptoms & Phenotypes for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Human phenotypes related to Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
2 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
3 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
5 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
8 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
9 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
10 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
11 increased intracranial pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002516
12 thickened calvaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002684
13 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
14 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
15 mild global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0011342
16 broad jaw 59 32 hallmark (90%) Very frequent (99-80%) HP:0012802

Drugs & Therapeutics for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Search Clinical Trials , NIH Clinical Center for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Genetic Tests for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Anatomical Context for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

MalaCards organs/tissues related to Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome:

41
Bone

Publications for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Variations for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Expression for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Search GEO for disease gene expression data for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome.

Pathways for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

GO Terms for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

Sources for Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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