MCID: OST114
MIFTS: 13

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 60

Characteristics:

Orphanet epidemiological data:

60
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 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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 thickened calvaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002684
4 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
5 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
6 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
7 increased bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0011001
8 broad jaw 60 33 hallmark (90%) Very frequent (99-80%) HP:0012802
9 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
10 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
11 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
12 increased intracranial pressure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002516
13 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
14 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
15 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
16 mild global developmental delay 60 33 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:

42
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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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
29 GO
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32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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