Cleidocranial dysplasia 1

Preferred Label : Cleidocranial dysplasia 1;

Symbol : CLCD1;

CISMeF acronym : CCD; CLCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleidocranial dysostosis; CLCD; CCD;

Included titles and symbols : Cleidocranial dysplasia 1, forme fruste, dental anomalies only; Cleidocranial dysplasia 1, forme fruste, with brachydactyly;

Description : The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the runt-related transcription factor 2 gene (RUNX2, 600211.0001);

Prefixed ID : #119600;

Détails

Origin ID

119600;

UMLS CUI

C0008928;

Automatic exact mappings (from CISMeF team)
- CCD [LOINC System]
- CCD [LOINC Challenge]
- Carmustine/Cyclophosphamide/Dexamethasone [NCIt concept]
- Celiac infantilism (disorder) [SNOMED CT concept]
- Central core disease [ICD-11 Sub-sub category]
- Charge coupled device (physical object) [SNOMED CT concept]
- Cleidocranial dysplasia [ICD-11 More detail]
- Coeliac disease [ICD-11 Category]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category (who)]
- RUNX2 wt Allele [NCIt concept]
- cleidocranial dysplasia, forme fruste, dental anomalies only [MeSH Supplementary Concept]
- cleidocranial dysplasia, forme fruste, dental anomalies only [MeSH concept]
- cleidocranial dysplasia, forme fruste, with brachydactyly [MeSH concept]
- cleidocranial dysplasia, forme fruste, with brachydactyly [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Cleidocranial Dysplasia [NCIt concept]
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [PASCAL descriptor]
- Cleidocranial dysplasia [MedDRA LLT]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [ACR pathology]
- cleidocranial dysplasia [DO Concept]
- cleidocranial dysplasia [Disease (Nov.)]
- cleidocranial dysplasia [MeSH Descriptor]
- cleidocranial dysplasia [MeSH concept]
DO Cross reference
- cleidocranial dysplasia [DO Concept]
False automatic mappings
- CCD Regimen [NCIt concept]
Genes related to phenotype
- Runt-related transcription factor 2 [OMIM gene]
HPO term(s)
- Abnormal facility in opposing the shoulders [HPO term]
- Absent frontal sinuses [HPO term]
- Absent paranasal sinuses [HPO term]
- Anterior fontanelle open in adults [HPO term]
- Aplastic clavicle [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cervical ribs [HPO term]
- Cleft palate [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coxa vara [HPO term]
- Deafness [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Delayed mineralization of pubic bone [HPO term]
- Delayed pubic bone ossification [HPO term]
- Depressed nasal bridge [HPO term]
- Enamel hypoplasia [HPO term]
- Frontal bossing [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypoplastic frontal sinuses [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic scapulae [HPO term]
- Increased bone mineral density [HPO term]
- Increased susceptibility to fractures [HPO term]
- Kyphosis [HPO term]
- Large foramen magnum [HPO term]
- Long second metacarpal [HPO term]
- Low nasal bridge [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Moderately short stature [HPO term]
- Narrow chest [HPO term]
- Narrow palate [HPO term]
- Narrow, high-arched palate [HPO term]
- Neonatal respiratory distress [HPO term]
- Parietal bossing [HPO term]
- Persistent open anterior fontanelle [HPO term]
- Respiratory distress [HPO term]
- Scoliosis [HPO term]
- Short clavicles [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short middle phalanx of the 2nd finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short ribs [HPO term]
- Short scapulae [HPO term]
- Spondylolisthesis [HPO term]
- Spondylolysis [HPO term]
- Supernumerary tooth [HPO term]
- Syringomyelia [HPO term]
- Thickened calvaria [HPO term]
- Wide pubic symphysis [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Cleidocranial dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleidocranial Dysplasia [NCIt concept]
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia [MedDRA LLT]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [PASCAL descriptor]
- Cleidocranial dysplasia and isolated cranial ossification defect [ORDO Disease]
- cleidocranial dysostosis [SNOMED Notion]
- cleidocranial dysplasia [MeSH Descriptor]
- cleidocranial dysplasia [MeSH concept]
- cleidocranial dysplasia [DO Concept]
- cleidocranial dysplasia [Disease (Nov.)]
Validated automatic mappings to BTNT
- cleidocranial dysostosis [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients