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Fibrochondrogenesis
2 OMIM references -
2 associated genes
30 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
Fibrochondrogenesis
Legg-Calvé-Perthes disease

COL11A1
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)
COL11A2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL11A1
COL11A2
(0.52)
(0.52)
COL2A1
COL2A1


Citations in the biomedical literature:


Fibrochondrogenesis
COL11A1 COL11A2
Legg-Calvé-Perthes disease
COL2A1



Fibrochondrogenesis
Legg-Calvé-Perthes disease

Synonym(s):
(no synonyms)

Synonym(s):
- Aseptic necrosis of the capital femoral epiphysis
- Osteochondritis of the capital femoral epiphysis
- Osteochondrosis of the capital femoral epiphysis
- Perthes disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Short stature / dwarfism / nanism

Fibrochondrogenesis
Legg-Calvé-Perthes disease

Very frequent
- Abnormal vertebral size / shape
- Anomalies of the ribs
- Autosomal recessive inheritance
- Diaphyseal anomaly
- Flared chest / bell-shaped thorax / shield chest
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Proptosis / exophthalmos
- Round face
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short neck
- Stillbirth / neonatal death

Frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of ear and hearing
- Anteverted nares / nostrils
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Occasional
- Camptodactyly of fingers
- Hypertelorism
- Mesomelic micromelia
- Omphalocele / exomphalos
- Plagiocephaly


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Delayed bone age
- Joint / articular deformation
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance