Hearing impairment, and Talipes

Diseases related with Hearing impairment and Talipes

In the following list you will find some of the most common rare diseases related to Hearing impairment and Talipes that can help you solving undiagnosed cases.

Top matches:

Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015).For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (OMIM ).

HEIMLER SYNDROME 2; HMLR2 Is also known as peroxisome biogenesis disorder 4c|pbd4c

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Talipes equinovarus
  • Pes planus
  • Bilateral sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HEIMLER SYNDROME 2; HMLR2

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS Is also known as charcot-marie-tooth disease, demyelinating, type 1e|cmt1e|charcot-marie-tooth neuropathy and deafness, autosomal dominant

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Areflexia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

Other less relevant matches:

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f|charcot-marie-tooth disease, neuronal, type 2f|cmt2f

Related symptoms:

  • Hearing impairment
  • Pain
  • Peripheral neuropathy
  • Talipes equinovarus
  • Areflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4D Is also known as hmsnl|charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d|hmsn, lom type|neuropathy, hereditary motor and sensory, lom type|hmsn-lom|hereditary motor and sensory neuropathy, lom type|cmt4d|hmsn4d|charcot-marie-tooth neuropathy, type 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4D

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2|cmt4b2|charcot-marie-tooth neuropathy, type 4b2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Visual impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Top 5 symptoms//phenotypes associated to Hearing impairment and Talipes

Symptoms // Phenotype % cases
Talipes equinovarus Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Talipes. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Areflexia Hyporeflexia Distal muscle weakness Kyphoscoliosis Glaucoma Decreased motor nerve conduction velocity Split hand Foot dorsiflexor weakness Distal amyotrophy Sensory neuropathy Difficulty walking Hammertoe Steppage gait Muscle weakness Proximal muscle weakness Short stature Scoliosis Limb muscle weakness Kyphosis

Rare Symptoms - Less than 30% cases

Visual loss Sensorimotor neuropathy Lower limb muscle weakness Talipes cavus equinovarus Peripheral demyelination Peripheral axonal neuropathy Ulnar claw Segmental peripheral demyelination/remyelination Decreased nerve conduction velocity Onion bulb formation Cleft palate Pain Abnormality of the foot Retinal detachment Intellectual disability Global developmental delay Generalized hypotonia Myopia Increased CSF lactate Cataract Broad forehead Stroke Lactic acidosis Progressive cerebellar ataxia Hyperlordosis Increased serum lactate Skeletal dysplasia Short neck Gynecomastia Nystagmus EMG abnormality Exercise intolerance Generalized tonic seizures Hypertelorism Focal T2 hypointense basal ganglia lesion Brisk reflexes Axonal degeneration Central hypotonia Epilepsia partialis continua Increased intramyocellular lipid droplets Neurodevelopmental delay Abnormality of the cerebral white matter Platyspondyly Tracheomalacia Microcephaly Atrial septal defect Bifid uvula Renal hypoplasia Aortic valve stenosis Hypoplastic left heart Lipoma Spinal deformities Mitral stenosis Tethered cord Butterfly vertebrae Spinal dysraphism Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Wrist drop Poor head control Narrow chest Failure to thrive Micromelia Flat face Limitation of joint mobility Osteoarthritis Abnormality of epiphysis morphology Coxa vara Short thorax Optic atrophy Delayed gross motor development Facial palsy Developmental regression Falls Sensory impairment Optic disc pallor Increased body weight Respiratory insufficiency due to muscle weakness Abnormal pyramidal sign Congenital glaucoma Intellectual disability, moderate Chorioretinal coloboma Restless legs Distal lower limb amyotrophy EMG: neuropathic changes Impaired pain sensation Sleep apnea Reduced tendon reflexes Fasciculations Muscle cramps Paresthesia Apnea Cervical kyphosis Multiple joint dislocation Bilateral talipes equinovarus Progressive hearing impairment Impaired temperature sensation Joint dislocation High myopia Iris coloboma Pectus carinatum Coloboma Joint laxity Proptosis Talipes calcaneovalgus Leukonychia Taurodontia Dental crowding Hypoplasia of dental enamel Bilateral sensorineural hearing impairment Pes planus EMG: chronic denervation signs Chronic axonal neuropathy Muscular hypotonia of the trunk Abnormal cranial nerve morphology Gait ataxia Myoclonus Dystonia Cerebellar atrophy Tremor Hyperreflexia Cognitive impairment Strabismus Ataxia Seizures Myelin outfoldings Buphthalmos Increased intraocular pressure Megalocornea Upper limb amyotrophy Decreased number of peripheral myelinated nerve fibers Visual impairment Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Vitamin E deficiency Abnormal auditory evoked potentials Abnormality of visual evoked potentials Axonal loss Abnormality of the hand CNS hypomyelination Unsteady gait Gait disturbance Skeletal muscle atrophy Motor delay Limb fasciculations Laryngeal web


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