Craniometaphyseal dysplasia, autosomal dominant

Preferred Label : Craniometaphyseal dysplasia, autosomal dominant;

Symbol : CMDD;

CISMeF acronym : CMDD; CMD; CMDJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniometaphyseal dysplasia, jackson type; CMD; CMDJ;

Description : Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant and autosomal recessive (CMDR; 218400) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ANHK inorganic pyrophosphate transport regulator gene (ANKH, 605145.0001);

Prefixed ID : #123000;

Details

Origin ID

123000;

UMLS CUI

C1852502;

Automatic exact mappings (from CISMeF team)
- Campomelic Dysplasia [NCIt concept]
- Congenital muscular dystrophy [ORDO Disease]
- Coronary Microvascular Disease [NCIt concept]
- Craniometaphyseal dysplasia [ORDO Disease]
- GDC Comorbidity Method of Diagnosis Terminology [NCIt concept]
- Microvascular angina [ICD-11 More detail]
- cardiomyopathy, dilated [MeSH Descriptor]
Broader ORDO disease(s)
- Craniometaphyseal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant craniometaphyseal dysplasia [DO Concept]
- craniometaphyseal dysplasia, autosomal dominant [MeSH concept]
- craniometaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant craniometaphyseal dysplasia [DO Concept]
Genes related to phenotype
- Ankh inorganic pyrophosphate transport regulator [OMIM gene]
HPO term(s)
- 'erlenmeyer flask' deformity of distal femur [HPO term]
- Abnormal nasopharynx morphology [HPO term]
- Abnormal pelvic girdle bone morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Alveolar ridge overgrowth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bony paranasal bossing [HPO term]
- Broad forehead [HPO term]
- Calvarial osteosclerosis [HPO term]
- Childhood onset [HPO term]
- Choanal stenosis [HPO term]
- Club-shaped distal femur [HPO term]
- Congenital onset [HPO term]
- Cranial hyperostosis [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Delayed eruption of primary teeth [HPO term]
- Delayed pneumatization of the mastoid process [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Epiblepharon [HPO term]
- Erlenmeyer flask deformity of the femurs [HPO term]
- Exotropia [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Flared metaphysis [HPO term]
- Frontal bossing [HPO term]
- Gingival overgrowth [HPO term]
- Hearing impairment [HPO term]
- Hydrocephalus [HPO term]
- Hypercalcemia [HPO term]
- Hypertelorism [HPO term]
- Hypophosphatemia [HPO term]
- Increased circulating osteocalcin level [HPO term]
- Incus ankylosis [HPO term]
- Infantile onset [HPO term]
- Intervertebral disk calcification [HPO term]
- Juvenile onset [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal widening [HPO term]
- Mixed hearing impairment [HPO term]
- Narrow internal auditory canal [HPO term]
- Nasal congestion [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Polyarticular chondrocalcinosis [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominence of the zygomatic bone [HPO term]
- Prominent nasal bridge [HPO term]
- Sclerosis of skull base [HPO term]
- Secondary hyperparathyroidism [HPO term]
- Short stature [HPO term]
- Small foramen magnum [HPO term]
- Telecanthus [HPO term]
- Thickened calvaria [HPO term]
- Thin bony cortex [HPO term]
- Tinnitus [HPO term]
- Tooth malposition [HPO term]
- Visual fixation instability [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Craniometaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- craniometaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
- craniometaphyseal dysplasia, autosomal dominant [MeSH concept]

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