ODCs

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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Cleidocranial dysplasia

2 OMIM references -
1 associated gene
40 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Cleidocranial dysplasia

HDAC6

(UniProt - OMIM)

RUNX2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.84)	RUNX2

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Cleidocranial dysplasia
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - Cleidocranial dysostosis

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

	Classification (ICD10): (no data available)		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: x-linked 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: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D002973


COMMON SIGNS	- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short hand / brachydactyly - Short stature / dwarfism / nanism

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Cleidocranial dysplasia
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Flattened nose - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum		Very frequent - Anomalies of teeth and dentition - Autosomal dominant inheritance - Clavicle absent / abnormal - High vaulted / narrow palate - Hypertelorism - 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 - Hearing loss / hypoacusia / deafness - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Sacro-coccyx / sacrum anomaly - Sloping forehead - Small face Occasional - Apnea / sleep apnea - Brachycephaly / flat occiput - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Genu valgum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Motor deficit / trouble - Mutiple fractures / bone fragility - Scoliosis - Tapered fingers - Thumb anomalies (excluding hypoplasia)