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2 OMIM references -
2 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
6 associated genes
19 signs/symptoms
Craniometaphyseal dysplasia
Limited cutaneous systemic sclerosis

ANKH CAV1
GJA1 CCR6
CTGF
HLA-DRB1
IRF5
KIAA0319L


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.88)
CAV1



Citations in the biomedical literature:


Craniometaphyseal dysplasia
ANKH GJA1
Limited cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5 KIAA0319L



Craniometaphyseal dysplasia
Limited cutaneous systemic sclerosis

Synonym(s):
- CMD

Synonym(s):
- Limited cutaneous systemic scleroderma

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Craniometaphyseal dysplasia
Limited cutaneous systemic sclerosis

Very frequent
- Autosomal dominant inheritance
- Broad nasal root
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Hypertelorism
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Telecanthus / canthal dystopy

Occasional
- Conductive deafness / hearing loss
- Cranial nerve anomalies
- Facial palsy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia


Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of skin, subcutaneous tissue and mucosae
- Autoimmunity / autoimmune reaction / autoantibodies
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Irregular / patchy skin hypopigmentation

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin

Occasional
- Claw hand / retracted fingers
- Claw toes / retracted toes
- Lung fibrosis
- Musculo-tendinous retractions
- Pulmonary hypertension