ODCs

Click node...

Achondroplasia

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Deafness with labyrinthine aplasia, microtia, and microdontia

1 OMIM reference -
1 associated gene
24 signs/symptoms

Achondroplasia

Deafness with labyrinthine aplasia, microtia, and microdontia

FGFR3

(UniProt - OMIM)

FGF3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.52)	FGF3

Citations in the biomedical literature:

Achondroplasia		Deafness with labyrinthine aplasia, microtia, and microdontia
	Synonym(s): (no synonyms)		Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: elderly 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 recessive

	External references: 1 OMIM reference - 1 MeSH reference: D000130		External references: 1 OMIM reference - 1 MeSH reference: C548011


COMMON SIGNS	- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis

Achondroplasia		Deafness with labyrinthine aplasia, microtia, and microdontia
	Very frequent - Anomalies of the ribs - Anteverted nares / nostrils - Autosomal dominant inheritance - Chronic / relapsing otitis - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Genu varum - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Elbow anomalies(excluding luxation) - Enlarged diaphysis / diaphyses - Generalized obesity - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Hypotonia - Intrauterine growth retardation - Kyphosis - Long rib cage / thorax - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Elbow dislocation - Elocution disorders / dysarthria / dysphonia - Hydrocephaly - Rachidian / spine canal stenosis - Restricted joint mobility / joint stiffness / ankylosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia		Very frequent - Autosomal recessive inheritance - Complete / partial microdontia - Cranial nerve anomalies - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Sensorineural deafness / hearing loss - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Tooth shape anomaly Frequent - Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Long face - Micrognathia / retrognathia / micrognathism / retrognathism - Pointed chin - Small / triangular nares / nostrils Occasional - Anodontia / oligodontia / hypodontia - Bifid / cleft ear lobe / ear lobe pits - Hypermetropia - Hypertelorism - Long / large / bulbous nose - Preauricular / branchial tags / appendages - Strabismus / squint - Supernumerary teeth / polyodontia - Synophris / synophrys - Tall stature / gigantism / growth acceleration