Craniodiaphyseal dysplasia, autosomal dominant

Preferred Label : Craniodiaphyseal dysplasia, autosomal dominant;

Symbol : CDD;

CISMeF acronym : CDD;

Type : Phenotype, molecular basis known;

Description : Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sclerostin gene (SOST, 605740.0005);

Laboratory abnormalities : Increased serum parathyroid hormone; Increased serum alkaline phosphatase;

Prefixed ID : #122860;

Details

Origin ID

122860;

UMLS CUI

C2675746;

Automatic exact mappings (from CISMeF team)
- Aplasia of diaphragm (disorder) [SNOMED CT concept]
- CDA wt Allele [NCIt concept]
- CDD ID [EDAM data]
- CDKL5-deficiency disorder [ORDO Disease]
- Craniodiaphyseal Dysplasia [NCIt concept]
- NPPA wt Allele [NCIt concept]
- Natriuretic Peptides A [NCIt concept]
- SOST wt Allele [NCIt concept]
- Structural developmental anomalies of diaphragm [ICD-11 Category]
- cytidine deaminase [HGNC gene]
- schaefer stein oshman syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- craniodiaphyseal dysplasia, autosomal dominant [MeSH concept]
- craniodiaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- craniometaphyseal dysplasia [DO Concept]
Genes related to phenotype
- Sclerostin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choanal stenosis [HPO term]
- Concave nasal ridge [HPO term]
- Cortical sclerosis [HPO term]
- Craniofacial hyperostosis [HPO term]
- Craniofacial osteosclerosis [HPO term]
- Depressed nasal bridge [HPO term]
- Diaphyseal sclerosis [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Facial diplegia [HPO term]
- Headache [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Increased intracranial pressure [HPO term]
- Infantile onset [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Optic atrophy [HPO term]
- Papilledema [HPO term]
- Progressive [HPO term]
- Progressive visual loss [HPO term]
- Short stature [HPO term]
- Thickened ribs [HPO term]
- Usually autosomal dominant [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Craniodiaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- craniodiaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia, autosomal dominant [MeSH concept]

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