Hearing impairment, and Scoliosis

Diseases related with Hearing impairment and Scoliosis

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

Top matches:

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS Is also known as chromosome xq27.1 interchromosomal insertion syndrome|hcg|congenital generalized hypertrichosis, macias-flores type|cgh|macias flores-garcia cruz-rivera syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Abnormality of the dentition
  • Skeletal dysplasia
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13 Is also known as spg13

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hyperreflexia
  • Babinski sign
  • Pes cavus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13

Other less relevant matches:

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.

CHARCOT-MARIE-TOOTH DISEASE TYPE 1B Is also known as cmt1b

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1B

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as neuropathy, axonal motor-sensory, with deafness and mental retardation|charcot-marie-tooth disease with deafness and mental retardation|cowchock syndrome|nadmr|cmt4x|namsd|charcot-marie-tooth disease, x-linked recessive, 4|cmtx4

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

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

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Decreased nerve conduction velocity Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Distal sensory impairment Distal muscle weakness Peripheral neuropathy Pes cavus Kyphosis Kyphoscoliosis

Rare Symptoms - Less than 30% cases

Global developmental delay Sensory impairment Motor delay Seizures Hammertoe Elevated serum creatine phosphokinase Split hand Sensory neuropathy Gait disturbance Axonal loss Cognitive impairment Peripheral demyelination Nystagmus Ataxia Hypertrichosis Talipes equinovarus Glaucoma Talipes Short stature Segmental peripheral demyelination/remyelination Abnormal auditory evoked potentials Abnormality of visual evoked potentials Onion bulb formation Decreased motor nerve conduction velocity Abnormality of the hand CNS hypomyelination Distal amyotrophy Unsteady gait Abnormality of the foot Limb muscle weakness Talipes cavus equinovarus Proximal muscle weakness Hyporeflexia Motor axonal neuropathy Impaired pain sensation Sensory axonal neuropathy Skeletal dysplasia Sensorimotor neuropathy Sleep disturbance Hirsutism Overgrowth Tremor Vitamin E deficiency Progressive hearing impairment Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Saccadic smooth pursuit Status epilepticus Neuronal loss in central nervous system Cerebral cortical atrophy Intrauterine growth retardation Visual impairment Spasticity Failure to thrive Microcephaly Generalized hypotonia Horizontal supranuclear gaze palsy Progressive ophthalmoplegia Facial myokymia Myokymia Spina bifida Hypoplasia of the pons Pendular nystagmus Thoracolumbar scoliosis Progressive external ophthalmoplegia Congenital nystagmus External ophthalmoplegia Abnormality of eye movement Ophthalmoplegia Paralysis Cerebellar hypoplasia Short neck Flexion contracture Abnormality of the dentition Agenesis of permanent teeth Intellectual disability Spastic gait Joint laxity Coloboma Peripheral axonal neuropathy Pectus carinatum Iris coloboma Retinal detachment High myopia Hyperreflexia in upper limbs Urinary bladder sphincter dysfunction Impaired vibration sensation in the lower limbs Urinary urgency Lower limb spasticity Increased CSF protein Urinary incontinence Lower limb muscle weakness Spastic paraplegia Abnormal pyramidal sign Rod-cone dystrophy Joint dislocation Babinski sign Hyperreflexia Cervical kyphosis Multiple joint dislocation Bilateral talipes equinovarus Skeletal muscle hypertrophy Abnormal pupil morphology Demyelinating peripheral neuropathy Myopia Chorioretinal coloboma Easy fatigability Horizontal nystagmus Gingival fibromatosis Increased serum lactate Generalized hypertrichosis Lactic acidosis Congenital, generalized hypertrichosis Difficulty walking Acidosis Dystonia Aplasia of the 2nd finger Peripheral dysmyelination Hitchhiker thumb Moderate hearing impairment Split foot Abnormality of the nail Low anterior hairline Tapered finger Synophrys Severe short stature Clinodactyly Frontal bossing Proptosis No social interaction


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