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: 4

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

1 OMIM reference -
1 associated gene
17 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Metaphyseal dysplasia - maxillary hypoplasia - brachydacty

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		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Micrognathia / retrognathia / micrognathism / retrognathism - Short hand / brachydactyly - Short philtrum - Short stature / dwarfism / nanism

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - 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		Very frequent - Autosomal dominant inheritance - Beaked nose - Dental staining anomaly / spotted teeth / erythrodontia - Metaphyseal anomaly - Thin / retracted lips Frequent - Abnormal vertebral size / shape - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Mutiple fractures / bone fragility