ODCs

Click node...

Campomelic dysplasia

3 OMIM references -
1 associated gene
38 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

1 OMIM reference -
1 associated gene
17 signs/symptoms

Campomelic dysplasia

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

SOX9

(UniProt - OMIM)

RUNX2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX9	(0.65)	RUNX2

Citations in the biomedical literature:

Campomelic dysplasia		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Synonym(s): - Campomelic dwarfism		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare urogenital 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D055036		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Micrognathia / retrognathia / micrognathism / retrognathism - Mutiple fractures / bone fragility - Short stature / dwarfism / nanism

Campomelic dysplasia		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Very frequent - Bone / osseous hypoplasia - Bowed diaphysis / diaphyses / long bones - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Flat face - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Lack / delayed ossification of spine / vertebrae - Laryngomalacia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Short neck - Stillbirth / neonatal death - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Tracheomalacia / tracheobronchomalacia Frequent - Ambiguous genitalia - Dermoid sinus / dimple / pit (excluding sacral) - Hypertelorism - Low set ears / posteriorly rotated ears - Male pseudohermaphrodism / lack of virilisation - Proptosis / exophthalmos - Talipes-varus / metatarsal varus Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Depressed nasal bridge - Dilated cerebral ventricles without hydrocephaly - Hearing loss / hypoacusia / deafness - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome		Very frequent - Beaked nose - Dental staining anomaly / spotted teeth / erythrodontia - Metaphyseal anomaly - Short hand / brachydactyly - Short philtrum - Thin / retracted lips Frequent - Abnormal vertebral size / shape - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy