ODCs

Click node...

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Oculofaciocardiodental syndrome

1 OMIM reference -
1 associated gene
39 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Oculofaciocardiodental syndrome

HDAC6

(UniProt - OMIM)

BCOR

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.83)	BCOR

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Oculofaciocardiodental syndrome
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - Cataract - microphthalmia - radiculomegaly - septal heart defect - OFCD syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537465 / C537735


COMMON SIGNS	- Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Intellectual deficit / mental / psychomotor retardation / learning disability - X-linked dominant inheritance

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Oculofaciocardiodental syndrome
	Very frequent - 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 hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - 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 - Bifid tip / cleft nose / supernumerary nose - Cardiac septal defect - Cataract / lens opacification - Delayed dentition / eruption of teeth / lack of eruption of teeth - Microcornea Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - High nasal bridge - High vaulted / narrow palate - Long philtrum - Narrow face - Radioulnar synostosis - Syndactyly of toes Occasional - Anomalies of ear and hearing - Clinodactyly of fifth finger - Coloboma of iris - Cubitus valgus - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Genu valgum - Glaucoma - Hearing loss / hypoacusia / deafness - High arched eyebrows - Intestinal / gut / bowel malrotation - Lens dislocation / luxation / subluxation / ectopia lentis - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Patent ductus arteriosus - Ptosis - Pulmonary valve atresia / stenosis / narrowing - Retinal detachment - Scoliosis - Sensorineural deafness / hearing loss - Solitary median incisor - Thumb hypoplasia / aplasia / absence