Cleidocranial Dysplasia (CLCD) malady

NIH Rare Diseases:⁴² Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. mutations in the runx2 gene cause most cases of cleidocranial dysplasia. this condition is inherited in an autosomal dominant pattern. in some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. other cases result from new mutations in the runx2 gene. last updated: 12/26/2012

MalaCards based summary: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to hypophosphatasia and metaphyseal dysplasia, and has symptoms including hypertelorism, micrognathia and abnormality of the clavicles. An important gene associated with Cleidocranial Dysplasia is RUNX2 (runt-related transcription factor 2), and among its related pathways are Interleukin-11 Signaling Pathway and Regulation of nuclear SMAD2/3 signaling. The compounds fibroin and polycaprolactone have been mentioned in the context of this disorder. Affiliated tissues include clavicle, skull and bone, and related mouse phenotypes are no phenotypic analysis and respiratory system.

Disease Ontology:⁹ An osteochondrodysplasia that has material basis in mutations in the runx2 gene which results in underveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

Genetics Home Reference:²² Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.

OMIM:⁴⁶ The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...

Wikipedia:⁶⁴ Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

Description from OMIM:⁴⁶ 216330

GeneReviews summary for ccd

External Ids:

Disease Ontology9 DOID:13994 OMIM46 119600, 216330 MeSH34 C531655, D002973 NCIt39 C75020 SNOMED-CT56 65976001, 240193006

MESH via Orphanet35 D002973 ICD10 via Orphanet27 Q74.0 UMLS via Orphanet62 C0008928 UMLS61 C0008928

Symptoms by clinical synopsis from OMIM:

119600

Clinical features from OMIM:

119600,216330

Symptoms:

 ⁴⁸ (show all 40)

large fontanelle/delayed fontanelle closure frontal bossing/prominent forehead wormian bones hypertelorism hypoplastic mandibula/partial absence of the mandibula high vaulted/narrow palate anomalies of teeth and dentition supernumerary teeth/polyodontia clavicle absent/abnormal narrow/sloping shoulders repeat respiratory infections dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia autosomal dominant inheritance short stature/dwarfism/nanism poorly ossified skull/calvarium sloping forehead small face dental malocclusion nasal congestion/sinusitis/rhinitis/rhinorrhea delayed dentition/eruption of teeth/lack of eruption of teeth

anomalies of ear and hearing hearing loss/hypoacusia/deafness chronic/relapsing otitis narrow rib cage/thorax anomalies of the ribs sacro-coccyx/sacrum anomaly short hand/brachydactyly osteoporosis/osteopenia/demineralisation/osteomalacia/rickets macrocephaly/macrocrania/megalocephaly/megacephaly brachycephaly/flat occiput cleft palate without cleft lip/submucosal cleft palate/bifid uvula scoliosis pelvis anomaly/narrow/broad iliac wings/pubis abnormality tapered fingers thumb anomalies (excluding hypoplasia) genu valgum apnea/sleep apnea motor deficit/trouble mutiple fractures/bone fragility epiphyseal anomaly

HPO human phenotypes related to Cleidocranial Dysplasia:

(show all 82)

id	Description	Frequency	HPO Source Accession
1	hypertelorism	hallmark (90%)	HP:0000316
2	micrognathia	hallmark (90%)	HP:0000347
3	abnormality of the clavicles	hallmark (90%)	HP:0000889
4	frontal bossing	hallmark (90%)	HP:0002007
5	recurrent respiratory infections	hallmark (90%)	HP:0002205
6	wormian bones	hallmark (90%)	HP:0002645
7	skeletal dysplasia	hallmark (90%)	HP:0002652
8	abnormality of the shoulder	hallmark (90%)	HP:0003043
9	short stature	hallmark (90%)	HP:0004322
10	increased number of teeth	hallmark (90%)	HP:0011069
11	sinusitis	typical (50%)	HP:0000246
12	small face	typical (50%)	HP:0000274
13	sloping forehead	typical (50%)	HP:0000340
14	hearing impairment	typical (50%)	HP:0000365
15	otitis media	typical (50%)	HP:0000388
16	delayed eruption of teeth	typical (50%)	HP:0000684
17	dental malocclusion	typical (50%)	HP:0000689
18	abnormality of the ribs	typical (50%)	HP:0000772
19	narrow chest	typical (50%)	HP:0000774
20	brachydactyly syndrome	typical (50%)	HP:0001156
21	decreased skull ossification	typical (50%)	HP:0004331
22	reduced bone mineral density	typical (50%)	HP:0004349
23	abnormality of the sacrum	typical (50%)	HP:0005107
24	cleft palate	occasional (7.5%)	HP:0000175
25	macrocephaly	occasional (7.5%)	HP:0000256
26	abnormality of the thumb	occasional (7.5%)	HP:0001172
27	tapered finger	occasional (7.5%)	HP:0001182
28	apnea	occasional (7.5%)	HP:0002104
29	abnormality of pelvic girdle bone morphology	occasional (7.5%)	HP:0002644
30	scoliosis	occasional (7.5%)	HP:0002650
31	recurrent fractures	occasional (7.5%)	HP:0002757
32	genu valgum	occasional (7.5%)	HP:0002857
33	abnormality of the epiphyses	occasional (7.5%)	HP:0005930
34	autosomal dominant inheritance		HP:0000006
35	cleft palate		HP:0000175
36	narrow palate		HP:0000189
37	high palate		HP:0000218
38	parietal bossing		HP:0000242
39	malar flattening		HP:0000272
40	hypertelorism		HP:0000316
41	micrognathia		HP:0000347
42	hearing impairment		HP:0000365
43	delayed eruption of primary teeth		HP:0000680
44	delayed eruption of permanent teeth		HP:0000696
45	short ribs		HP:0000773
46	narrow chest		HP:0000774
47	hypoplastic scapulae		HP:0000882
48	cervical ribs		HP:0000891
49	short clavicles		HP:0000894
50	brachydactyly syndrome		HP:0001156
51	frontal bossing		HP:0002007
52	neonatal respiratory distress		HP:0002643
53	wormian bones		HP:0002645
54	scoliosis		HP:0002650
55	increased susceptibility to fractures		HP:0002659
56	thickened calvaria		HP:0002684
57	absent frontal sinuses		HP:0002688
58	absent paranasal sinuses		HP:0002689
59	large foramen magnum		HP:0002700
60	hypoplastic frontal sinuses		HP:0002738
61	kyphosis		HP:0002808
62	coxa vara		HP:0002812
63	hypoplastic iliac wings		HP:0002866
64	wide pubic symphysis		HP:0003183
65	spondylolisthesis		HP:0003302
66	spondylolysis		HP:0003304
67	syringomyelia		HP:0003396
68	short middle phalanx of the 5th finger		HP:0004220
69	persistent open anterior fontanelle		HP:0004474
70	abnormal facility in opposing the shoulders		HP:0005259
71	depressed nasal bridge		HP:0005280
72	long second metacarpal		HP:0006040
73	hypoplasia of dental enamel		HP:0006297
74	aplastic clavicles		HP:0006660
75	delayed pubic bone ossification		HP:0008788
76	moderately short stature		HP:0008848
77	short middle phalanx of the 2nd finger		HP:0009577
78	cone-shaped epiphyses of the phalanges of the hand		HP:0010230
79	increased bone mineral density		HP:0011001
80	increased number of teeth		HP:0011069
81	midface retrusion		HP:0011800
82	short femoral neck		HP:0100864

Search GEO for disease gene expression data for Cleidocranial Dysplasia.