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Deafness with labyrinthine aplasia, microtia, and microdontia

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Thanatophoric dysplasia type 2

2 OMIM references -
1 associated gene
36 signs/symptoms

Deafness with labyrinthine aplasia, microtia, and microdontia

Thanatophoric dysplasia type 2

FGF3

(UniProt - OMIM)

FGFR3

(UniProt - OMIM)


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

Citations in the biomedical literature:

Deafness with labyrinthine aplasia, microtia, and microdontia		Thanatophoric dysplasia type 2
	Synonym(s): - LAMM syndrome - Microdontia - type I microtia - deafness		Synonym(s): - Cloverleaf skull - micromelic bone dysplasia - TD2 - Thanatophoric dwarfism - cloverleaf skull - Thanatophoric dwarfism type 2

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C548011		External references: 2 OMIM references - No MeSH references

Deafness with labyrinthine aplasia, microtia, and microdontia		Thanatophoric dysplasia type 2
	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		Very frequent - Autosomal dominant inheritance - Cloverleaf skull - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Short hand / brachydactyly - Short rib cage / thorax - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Increased nuchal translucency - Kyphosis - Polyhydramnios - Proptosis / exophthalmos - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Acanthosis nigricans - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Patent ductus arteriosus - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis