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 58 54
Stanescu Osteosclerosis 54 60
Craniofacial Dysostosis-Diaphyseal Hyperplasia Syndrome 60
Autosomal Dominant Osteosclerosis, Stanescu Type 60
Osteosclerosis, Stanescu Type 58
Dysostosis, Stanescu Type 60
Dysostosis Stanescu Type 54

Characteristics:

Orphanet epidemiological data:

60
dysostosis, stanescu type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
craniofacial dysostosis with diaphyseal hyperplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Craniofacial Dysostosis with Diaphyseal Hyperplasia

NIH Rare Diseases : 54 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 pectus excavatum

Description from OMIM: 122900

Related Diseases for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Symptoms & Phenotypes for Craniofacial Dysostosis with Diaphyseal Hyperplasia

Human phenotypes related to Craniofacial Dysostosis with Diaphyseal Hyperplasia:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
3 cerebral calcification 60 33 hallmark (90%) Very frequent (99-80%) HP:0002514
4 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
5 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
6 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
7 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
8 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
11 abnormal nasal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005105
12 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
13 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
14 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
15 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
16 increased bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0011001
17 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
18 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
19 narrow nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000446
20 persistent open anterior fontanelle 60 33 hallmark (90%) Very frequent (99-80%) HP:0004474
21 massively thickened long bone cortices 60 33 hallmark (90%) Very frequent (99-80%) HP:0005665
22 abnormal palate morphology 33 hallmark (90%) HP:0000174
23 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
24 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
25 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
26 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
27 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
28 reduced number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0009804
29 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
30 abnormality of epiphysis morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005930
31 exostoses 60 33 occasional (7.5%) Occasional (29-5%) HP:0100777
32 abnormality of the metaphysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000944
33 wormian bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0002645
34 convex nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000444
35 abnormality of the dentition 60 Very frequent (99-80%)
36 abnormality of the skull 60 Very frequent (99-80%)
37 kyphoscoliosis 33 HP:0002751
38 cheekbone underdevelopment 60 Very frequent (99-80%)
39 abnormality of the palate 60 Very frequent (99-80%)
40 limb undergrowth 33 HP:0009826
41 thin calvarium 33 HP:0010539
42 craniofacial dysostosis 33 HP:0004439

Symptoms via clinical synopsis from OMIM:

58
Thorax:
pectus excavatum

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

Limbs:
brachydactyly
short limbs

Eyes:
exophthalmos

Growth:
short stature

Spine:
kyphoscoliosis

Radiology:
massively thickened long bone cortices
thin cranial bone

Clinical features from OMIM:

122900

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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