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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
24 signs/symptoms
Isolated plagiocephaly
Deafness with labyrinthine aplasia, microtia, and microdontia

FGFR3 FGF3
TCF12


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Deafness with labyrinthine aplasia, microtia, and microdontia
FGF3



Isolated plagiocephaly
Deafness with labyrinthine aplasia, microtia, and microdontia

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- LAMM syndrome
- Microdontia - type I microtia - deafness

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C548011


COMMON
SIGNS
- Strabismus / squint


Isolated plagiocephaly
Deafness with labyrinthine aplasia, microtia, and microdontia

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- 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
- Supernumerary teeth / polyodontia
- Synophris / synophrys
- Tall stature / gigantism / growth acceleration