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Deafness with labyrinthine aplasia, microtia, and microdontia
1 OMIM reference -
1 associated gene
36 connected diseases
24 signs/symptoms
Disease Type of connection
Oculootodental syndrome
Otodental syndrome
Cutis gyrata - acanthosis nigricans - craniosynostosis
Lacrimo-auriculo-dento-digital syndrome
Pfeiffer syndrome type 1
Saethre-Chotzen syndrome
Giant cell glioblastoma
Gliosarcoma
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Hartsfield-Bixler-Demyer syndrome
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Isolated trigonocephaly
Kallmann syndrome
Muenke syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pilocytic astrocytoma
Septo-optic dysplasia
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Synonym(s):
- LAMM syndrome
- Microdontia - type I microtia - deafness
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
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 recessive
External references:
1 OMIM reference -
1 MeSH reference: C548011
Gene symbol UniProt reference OMIM reference
FGF3 P11487164950
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
- Strabismus / squint
- Supernumerary teeth / polyodontia
- Synophris / synophrys
- Tall stature / gigantism / growth acceleration