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Enchondromatosis

1 OMIM reference -
3 associated genes
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Chondrodysplasia, Blomstrand type

1 OMIM reference -
1 associated gene
30 signs/symptoms

Enchondromatosis

Chondrodysplasia, Blomstrand type

IDH1	(UniProt - OMIM)		PTH1R	(UniProt - OMIM)
IDH2	(UniProt - OMIM)
PTH1R	(UniProt - OMIM)


COMMON GENES	PTH1R

Citations in the biomedical literature:

Enchondromatosis		Chondrodysplasia, Blomstrand type
	Synonym(s): - Ollier disease		Synonym(s): - BLC - Blomstrand lethal chondrodysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D004687		External references: 1 OMIM reference - 1 MeSH reference: C537914


COMMON SIGNS	- Metaphyseal anomaly - Short limbs / micromelia / brachymelia

Enchondromatosis		Chondrodysplasia, Blomstrand type
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Bone tumefaction / swelling - Cavernous / tuberous hemangioma - Osteolysis / osteoclasia / bone destruction / erosions - Visceral angiomatosis (excluding skin) Frequent - Bone pain - Restricted joint mobility / joint stiffness / ankylosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Anaemia - Bone / osseous neoplasm / tumor / carcinoma / cancer - Chronic skin infection / ulcerations / ulcers / cancrum - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Lymphangioma / lymphatic malformations - Neoplasms / tumors - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Platyspondyly - Precocious puberty - Sarcoma - Venous thrombosis / phlebitis / thrombophlebitis		Very frequent - Abnormal vertebral size / shape - Advanced bone age - Autosomal recessive inheritance - Clavicle absent / abnormal - Depressed nasal bridge - Epiphyseal anomaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Osteosclerosis / osteopetrosis / bone condensation - Polyhydramnios - Prematurity - Proptosis / exophthalmos - Rib structure anomalies - Short rib cage / thorax - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Anteverted nares / nostrils - Bowed diaphysis / diaphyses / long bones - Cataract / lens opacification - Hydrops fetalis - Long philtrum - Macroglossia / tongue protrusion / proeminent / hypertrophic - Metacarpal anomalies / Archibald's sign - Premature eruption of teeth / natal teeth - Synostosis