MCID: CRN082
MIFTS: 21

Craniofacial Dysostosis with Diaphyseal Hyperplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Craniofacial Dysostosis with Diaphyseal Hyperplasia

MalaCards integrated aliases for Craniofacial Dysostosis with Diaphyseal Hyperplasia:

Name: Craniofacial Dysostosis with Diaphyseal Hyperplasia 57 53
Stanescu Osteosclerosis 53 59
Craniofacial Dysostosis-Diaphyseal Hyperplasia Syndrome 59
Autosomal Dominant Osteosclerosis, Stanescu Type 59
Osteosclerosis, Stanescu Type 57
Dysostosis, Stanescu Type 59
Dysostosis Stanescu Type 53

Characteristics:

Orphanet epidemiological data:

59
dysostosis, stanescu type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
craniofacial dysostosis with diaphyseal hyperplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniofacial Dysostosis with Diaphyseal Hyperplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1798Disease definitionStanescu type dysostosis is a rare form of osteosclerosis.EpidemiologySo far it has been described in around 30 patients from three families.Clinical descriptionIt is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age.Genetic counselingThe syndrome is inherited in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Craniofacial Dysostosis with Diaphyseal Hyperplasia, is also known as stanescu osteosclerosis. Affiliated tissues include bone and cortex, and related phenotypes are hypertelorism and short neck

Description from OMIM: 122900

Related Diseases for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Symptoms & Phenotypes for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Symptoms via clinical synopsis from OMIM:

57
Thorax:
pectus excavatum

Skull:
brachycephaly
craniofacial dysostosis
small skull
frontoparietal and occipitoparietal suture depressions
poorly developed mandible

Spine:
kyphoscoliosis

Eyes:
exophthalmos

Growth:
short stature

Limbs:
brachydactyly
short limbs

Radiology:
massively thickened long bone cortices
thin cranial bone


Clinical features from OMIM:

122900

Human phenotypes related to Craniofacial Dysostosis with Diaphyseal Hyperplasia:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
3 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
4 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
5 cerebral calcification 59 32 hallmark (90%) Very frequent (99-80%) HP:0002514
6 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
9 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
10 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
11 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
12 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
13 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
14 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
15 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
16 exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0100777
17 abnormality of the metaphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000944
18 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
19 wormian bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0002645
20 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105
21 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
22 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
23 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
24 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
25 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
26 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
27 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
28 convex nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000444
29 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
30 narrow nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000446
31 persistent open anterior fontanelle 59 32 hallmark (90%) Very frequent (99-80%) HP:0004474
32 massively thickened long bone cortices 59 32 hallmark (90%) Very frequent (99-80%) HP:0005665
33 abnormality of the dentition 59 Very frequent (99-80%)
34 abnormality of the skull 59 Very frequent (99-80%)
35 cheekbone underdevelopment 59 Very frequent (99-80%)
36 abnormality of the palate 59 Very frequent (99-80%)
37 kyphoscoliosis 32 HP:0002751
38 limb undergrowth 32 HP:0009826
39 thin calvarium 32 HP:0010539
40 craniofacial dysostosis 32 HP:0004439
41 abnormal palate morphology 32 hallmark (90%) HP:0000174
42 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669

Drugs & Therapeutics for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Search Clinical Trials , NIH Clinical Center for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Genetic Tests for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Anatomical Context for Craniofacial Dysostosis with Diaphyseal Hyperplasia

MalaCards organs/tissues related to Craniofacial Dysostosis with Diaphyseal Hyperplasia:

41
Bone, Cortex

Publications for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Variations for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Expression for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Search GEO for disease gene expression data for Craniofacial Dysostosis with Diaphyseal Hyperplasia.

Pathways for Craniofacial Dysostosis with Diaphyseal Hyperplasia

GO Terms for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Sources for Craniofacial Dysostosis with Diaphyseal Hyperplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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