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Caffey disease
1 OMIM reference -
1 associated gene
63 connected diseases
15 signs/symptoms
Disease Type of connection
Osteogenesis imperfecta type 3
Dermatofibrosarcoma protuberans
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Hereditary breast and ovarian cancer syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Bilateral striopallidodentate calcinosis
Familial multiple meningioma
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Acral dystrophic epidermolysis bullosa
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Kufor-Rakeb syndrome
Ménière disease
Parkinsonim due to ATP13A2 deficiency
Fetal and neonatal alloimmune thrombocytopenia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
CARASIL
Congenital stromal corneal dystrophy
Familial pancreatic carcinoma
Familial prostate cancer
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Primary peritoneal carcinoma
Reis-Bücklers corneal dystrophy
Spondylocarpotarsal synostosis
Thiel-Behnke corneal dystrophy
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
IRIDA syndrome
Metaphyseal anadysplasia
Fibronectin glomerulopathy
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Temtamy syndrome
Synonym(s):
- Infantile cortical hyperostosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL1A1 P02452120150
Very frequent
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cortical anomaly / thick bone cortical layer

Frequent
- Bone tumefaction / swelling
- Fever / chilling
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperesthesia / allodynia / hyperalgia

Occasional
- Autosomal dominant inheritance
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypergammaglobulinemia
- Hyperleukocytosis / leukocytosis
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis