Our patient presented with congenital deafness, hypotonia, dysphygia and ataxia in early childhood. [ncbi.nlm.nih.gov]

Possibility of X-linked form was unlikely as most affected patients have early presentation incontrast to this patient who presented with deformities at 13 years of age. [indianpediatrics.net]

Microdontia was the most constant finding that was present in all affected individuals. Michel aplasia was present in most cases although other severe inner ear anomalies were detected in some individuals, especially with the p.R95W mutation. [miami.pure.elsevier.com]

All the affected members (21 individuals) presented with hearing impairment and communicated with sign language. [cags.org.ae]

• Epilepsy

  At the age of 6 years he developed intractable epilepsy, and deteriorated clinically with respiratory arrest and severe hypercapnea at the age of 8 years. [ncbi.nlm.nih.gov]

  Epilepsy developed in six children, and two others (Patients 20 and 25) had occasional seizures; the former six had intractable epilepsy with absences, myoclonic astatic attacks, and grand mal seizures requiring anticonvulsant therapy. [nejm.org]

• Developmental Delay

  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 [csbg.cnb.csic.es]

  Microtia with anteverted ears Some individuals may also show gross motor developmental delay during infancy (presumably due to the absence of vestibular system) accompanied by additional features that include: Hypoplasia/dysplasia of middle ear anatomic [ncbi.nlm.nih.gov]

• Fishing

  The phenylalanine residue at position 178 is highly conserved among species from fish to primates ( Web Fig. 1 ). [indianpediatrics.net]

• Family History of Deafness

  There was no family history of deafness or skeletal abnormalities. Anthropometry was within normal limits. She presented with type 1 microtia, widely spaced small teeth ( Fig .1 ), and genu valgum. Neurological examination was normal. [indianpediatrics.net]

• Pain

  Deafness had been diagnosed in early infancy, and for the past one year, she developed progressive genu valgum and wrist widening and leg pain. Her temporary teeth had just started falling out for the last few months. [indianpediatrics.net]

• Microdontia

  Congenital, Inner Ear Agenesis, Microtia, and Microdontia 41 Congenital Deafness with Inner Ear Agenesis, Microtia,microdontia 25 Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 60 Deafness with Labyrinthine Aplasia, Microtia and Microdontia [malacards.org]

  Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome ) is a condition that affects development of the ears and teeth. [ghr.nlm.nih.gov]

  Fig. 1 Clinical findings of the proband: (a) Grade 1 microtia (b) Microdontia (c) Bilateral complete labyrinthine aplasia (d) Microdontia, thin enamel, and increased pulp. [indianpediatrics.net]

  Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. [ncbi.nlm.nih.gov]

• Widely Spaced Teeth

  spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Showing of 12 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  Clinical description The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia); microtia type I with small auricle and narrow external auditory canal; and microdontia with widely spaced teeth. [orpha.net]

  The proband was a 4-year-old girl, who presented with prominent tip of the nose, dysplastic ears, bilateral type 1 microtia, and microdontia with widely spaced teeth. Her ears were low set and anterverted. [cags.org.ae]

  They can also have unusually small, widely spaced teeth (microdontia). LAMM syndrome is a rare condition, although its prevalence is unknown. Approximately a dozen affected families have been identified. [ghr.nlm.nih.gov]

• Small Widely Spaced Teeth

  In addition, people with LAMM syndrome often have peculiarly small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia). [lazoi.com]

  In addition, people with LAMM syndrome often have abnormally small outer ears ( microtia ) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia). [ghr.nlm.nih.gov]

• Small Teeth

  She presented with type 1 microtia, widely spaced small teeth ( Fig .1 ), and genu valgum. Neurological examination was normal. [indianpediatrics.net]

  Microtia with shortening of the upper part of the auricles (also referred to as type I microtia) ( Figure 1A ) Microdontia (small teeth) with widely spaced teeth ( Figure 1B ) Figure 1. [ncbi.nlm.nih.gov]

• Hearing Impairment

  All the affected members (21 individuals) presented with hearing impairment and communicated with sign language. [cags.org.ae]

  Average or above-average cognition; affected individuals often attend and thrive at schools for the hearing impaired. [ncbi.nlm.nih.gov]

  impairment 0011476 Skin tags 0010609 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Showing of 12 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

• Genu Valgum

  Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate. 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. [ncbi.nlm.nih.gov]

  She presented with type 1 microtia, widely spaced small teeth ( Fig .1 ), and genu valgum. Neurological examination was normal. [indianpediatrics.net]

  Case characteristics 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. Observation Homozygous novel missense mutation in fibroblast growth factor 3. [link.springer.com]

• Leg Pain

  Deafness had been diagnosed in early infancy, and for the past one year, she developed progressive genu valgum and wrist widening and leg pain. Her temporary teeth had just started falling out for the last few months. [indianpediatrics.net]

• Osteopenia

  An X -ray of the patient’s pelvis showed generalized osteopenia with an ill-defined pubis. X- ray of knees showed fraying, cupping and splaying of metaphyses. [indianpediatrics.net]

• Suggestibility

  This report pinpoints the importance of CSF folate investigations in children with unexplained progressive neurological presentations, even if a malformative syndrome is obviously present, and suggests a trial with PLP in folinic acid-unresponsive seizures [ncbi.nlm.nih.gov]

  Reported mutations include missense, nonsense, and small deletions leading to a frameshift suggesting that the LAMM syndrome is caused by the loss of FGF3 function. [miami.pure.elsevier.com]

  Microtia and microdontia was recently evidenced in both patients suggesting the diagnosis of LAMM syndrome. [omicsonline.org]

  Large bony defects at the tegmen were seen in 3 patients, with soft-tissue protrusions into the middle ear, suggestive of small skull base encephaloceles. [ajnr.org]

• Seizure

  This report pinpoints the importance of CSF folate investigations in children with unexplained progressive neurological presentations, even if a malformative syndrome is obviously present, and suggests a trial with PLP in folinic acid-unresponsive seizures [ncbi.nlm.nih.gov]

  Epilepsy developed in six children, and two others (Patients 20 and 25) had occasional seizures; the former six had intractable epilepsy with absences, myoclonic astatic attacks, and grand mal seizures requiring anticonvulsant therapy. [nejm.org]

  Dill P, Schneider J, Weber P, Trachsel D, Tekin M, et al. (2011) Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). [omicsonline.org]

• Ataxia

  Our patient presented with congenital deafness, hypotonia, dysphygia and ataxia in early childhood. [ncbi.nlm.nih.gov]

  Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. [nejm.org]

• Cerebellar Ataxia

  Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. [nejm.org]

Upon oral treatment with folinic acid the boy regained consciousness while the epilepsy could be successfully managed only with additional pyridoxal 5'-phosphate (PLP). [ncbi.nlm.nih.gov]

The aforementioned t-test was also used to compare pre-treatment and post-treatment levels of 5MTHF in the cerebrospinal fluid in the group with cerebral folate deficiency and our previously established reference data obtained from the 99 normal controls [nejm.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment [ edit ] enrollment in appropriate early intervention programs for the deaf and hard of hearing. consideration of vibrotactile hearing devices or brain stem implants for individuals with Congenital labyrinthine aplasia Evaluation for cochlear [en.wikipedia.org]

Etiology Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Genetic counseling Transmission is autosomal recessive. [orpha.net]

The central role of FGF23 in its etiology and its structural similarity to FGF3 lead us to hypothesize that the mutation found in FGF3 could also be involved in the pathogenesis of hypophosphatemic rickets in this patient. [indianpediatrics.net]

Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae: Auditory deprivation through age two years is associated with poor reading performance, poor communication skills, and poor speech production [ncbi.nlm.nih.gov]

Summary Epidemiology It has been described in 6 families to date. [orpha.net]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

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 [csbg.cnb.csic.es]

Epidemiology [ edit ] Michel aplasia is a rare disease. It was first described by P. Michel in the year 1863. [en.wikipedia.org]

Prevention (of secondary complications) [ edit ] Presence of inner ear abnormalities lead to Delayed gross development of child because of balance impairment and profound deafness which increases the risk of trauma and accidents. [en.wikipedia.org]

Blocking autoantibodies, if present, prevent the binding of [ 3 H]folic acid to folate receptors. [nejm.org]

Injury prevention for children with disabilities. [ncbi.nlm.nih.gov]

Unfortunately, we could not have access to cells from the patient and could not perform further analysis at the RNA or protein level, then preventing to exclude this possibility. [omicsonline.org]