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Campomelic dysplasia

3 OMIM references -
1 associated gene
38 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10

Cleidocranial dysplasia

2 OMIM references -
1 associated gene
40 signs/symptoms

Campomelic dysplasia

Cleidocranial dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Campomelic dysplasia		Cleidocranial dysplasia
	Synonym(s): - Campomelic dwarfism		Synonym(s): - Cleidocranial dysostosis

	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 - Rare odontologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 3 OMIM references - 1 MeSH reference: D055036		External references: 2 OMIM references - 1 MeSH reference: D002973


COMMON SIGNS	- Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hearing loss / hypoacusia / deafness - Hypertelorism - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Short stature / dwarfism / nanism

Campomelic dysplasia		Cleidocranial dysplasia
	Very frequent - Bone / osseous hypoplasia - Bowed diaphysis / diaphyses / long bones - 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 - Micrognathia / retrognathia / micrognathism / retrognathism - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - 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) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - 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 - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome		Very frequent - Anomalies of teeth and dentition - Clavicle absent / abnormal - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Narrow / sloping shoulders - Repeat respiratory infections - Supernumerary teeth / polyodontia - Wormian bones Frequent - Anomalies of ear and hearing - Anomalies of the ribs - Chronic / relapsing otitis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Sacro-coccyx / sacrum anomaly - Short hand / brachydactyly - Sloping forehead - Small face Occasional - Apnea / sleep apnea - Brachycephaly / flat occiput - Epiphyseal anomaly - Genu valgum - Motor deficit / trouble - Tapered fingers - Thumb anomalies (excluding hypoplasia)