Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

Also Known As:

Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia; Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia; Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM); Deafness with Lamm; Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia; Lamm Syndrome

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
2.	Congenital Microtia
3.	Hypophosphatemic Rickets
4.	Seizures (Absence Seizure)
5.	Deafness (Deaf Mutism)

Experts

1.	Blau, Nenad: 1 article (11/2011)
2.	Dill, Patricia: 1 article (11/2011)
3.	Jakobs, Cornelis: 1 article (11/2011)
4.	Schneider, Jacques: 1 article (11/2011)
5.	Tekin, Mustafa: 1 article (11/2011)
6.	Thöny, Beat: 1 article (11/2011)
7.	Trachsel, Daniel: 1 article (11/2011)
8.	Weber, Peter: 1 article (11/2011)
9.	Ahmed, Zubair M: 1 article (02/2011)
10.	Butman, John A: 1 article (02/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

1.	Fibroblast Growth Factor 3IBA 11/01/2014 - "Homozygous novel missense mutation in fibroblast growth factor 3. LAMM syndrome and hypophosphatemic rickets may be associated." 02/09/2011 - "Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia. "
2.	Folate Receptor 1IBA 11/01/2011 - "We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). "
3.	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 11/01/2011 - "Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)."
4.	Folic Acid (Vitamin M)FDA LinkGeneric 11/01/2011 - "While the FRα defect is a disorder of brain-specific folate transport accompanied with cerebral folate deficiency (CFD) causing progressive neurological symptoms, LAMM syndrome is a solely malformative condition, with normal physical growth and cognitive development. " 11/01/2011 - "Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)."

Therapies and Procedures

1.	Cochlear Implantation 02/09/2011 - "Therefore, we conclude that the manifestations of recessive FGF3 mutations range from fully penetrant LAMM syndrome to deafness with residual inner ear structures and, by extension, with minimal syndromic features, an observation with implications for cochlear implantation candidacy."