MCID: OST114
MIFTS: 12

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 58

Characteristics:

Orphanet epidemiological data:

58
osteosclerosis-developmental delay-craniosynostosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


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 macrocephaly and hypertelorism

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 thickened calvaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002684
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
6 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
7 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
8 broad jaw 58 31 hallmark (90%) Very frequent (99-80%) HP:0012802
9 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
10 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
11 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
12 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
13 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
14 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
15 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
16 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342

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:

40
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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