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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
24 signs/symptoms
Crouzon syndrome - acanthosis nigricans
Deafness with labyrinthine aplasia, microtia, and microdontia

FGFR3 FGF3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
Deafness with labyrinthine aplasia, microtia, and microdontia
FGF3



Crouzon syndrome - acanthosis nigricans
Deafness with labyrinthine aplasia, microtia, and microdontia

Synonym(s):
- Crouzono-dermoskeletal syndrome

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
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
- Hypertelorism
- Strabismus / squint


Crouzon syndrome - acanthosis nigricans
Deafness with labyrinthine aplasia, microtia, and microdontia

Very frequent
- Acanthosis nigricans
- Autosomal dominant inheritance
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Abnormal vertebral size / shape
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hydrocephaly
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Ptosis
- Short hand / brachydactyly
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Beaked nose
- Facial pain / cephalalgia / migraine
- High vaulted / narrow palate
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia


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
- Long / large / bulbous nose
- Preauricular / branchial tags / appendages
- Supernumerary teeth / polyodontia
- Synophris / synophrys
- Tall stature / gigantism / growth acceleration