Global developmental delay, and Progressive hearing impairment

Diseases related with Global developmental delay and Progressive hearing impairment

In the following list you will find some of the most common rare diseases related to Global developmental delay and Progressive hearing impairment that can help you solving undiagnosed cases.

Top matches:

DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010).See also choroideremia, deafness, and mental retardation (OMIM ), a contiguous gene deletion syndrome involving the POU3F4 and CHM (OMIM ) genes on Xq21; isolated choroideremia (OMIM ) is caused by mutation in the CHM gene.

DEAFNESS, X-LINKED 2; DFNX2 Is also known as deafness 3, conductive, with stapes fixation|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear|perilymphatic gusher-deafness syndrome|deafness, mixed, with perilymphatic

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, X-LINKED 2; DFNX2

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Visual impairment
  • Blindness


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 80; RP80

Other less relevant matches:

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Top 5 symptoms//phenotypes associated to Global developmental delay and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Progressive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Rod-cone dystrophy Visual loss Intellectual disability Progressive sensorineural hearing impairment Motor delay Cataract Generalized hypotonia Peripheral neuropathy Progressive visual loss

Rare Symptoms - Less than 30% cases

High hypermetropia Encephalopathy Muscular hypotonia of the trunk Abnormality of the eye Hypoplasia of the corpus callosum Optic atrophy Gait disturbance Mental deterioration Cerebral cortical atrophy Macular atrophy Hypertension Pes cavus Intellectual disability, severe Edema Retinal dystrophy Strabismus Nyctalopia Dysarthria Pallor Areflexia Blindness Visual impairment Severe hearing impairment Microcephaly Short stature Impaired pain sensation Distal muscle weakness Optic neuropathy Congenital nystagmus Excessive daytime somnolence Areflexia of lower limbs Kinetic tremor Segmental peripheral demyelination/remyelination Abnormal facial shape Abnormal nerve conduction velocity Paraparesis Onion bulb formation Sensory impairment Paresthesia Peripheral axonal neuropathy Falls Distal amyotrophy Distal sensory impairment Sensory neuropathy Reduced visual acuity Polyneuropathy Optic disc pallor Mildly elevated creatine phosphokinase Elevated serum creatine phosphokinase Bilateral sensorineural hearing impairment Delayed speech and language development Broad-based gait Frequent falls Sensorimotor neuropathy Lower limb muscle weakness Language impairment Skeletal muscle hypertrophy Low-set ears Deeply set eye Brachydactyly Metabolic acidosis Failure to thrive Skeletal muscle atrophy Hyporeflexia Agenesis of corpus callosum Acidosis Apnea Severe global developmental delay Abnormality of eye movement Retinal degeneration Generalized-onset seizure Broad distal phalanx of finger Progressive microcephaly Bradycardia Increased body weight Athetosis Hyperglycemia Muscle fibrillation Poor eye contact Central apnea Demyelinating peripheral neuropathy Seizures Wide nasal base Myopia Hypothyroidism Anteverted nares Intellectual disability, mild Short nose Long philtrum Alopecia Posteriorly rotated ears Upslanted palpebral fissure Diabetes mellitus Glaucoma High forehead Broad columella Thin upper lip vermilion Low-set, posteriorly rotated ears Sparse hair Broad nasal tip Delayed myelination Short palpebral fissure Broad thumb Corneal dystrophy Congenital hypothyroidism Kyphosis Mutism Tremor Congestive heart failure Rotary nystagmus Decreased activity of mitochondrial respiratory chain Infantile axial hypotonia Decreased serum ferritin Abnormal muscle fiber protein expression Hyperreflexia Fatigue Abnormality of cardiovascular system morphology Reduced tendon reflexes Dyspnea Myalgia Hypertrophic cardiomyopathy Dilated cardiomyopathy Chest pain Increased serum lactate Febrile seizures EMG abnormality Bilateral ptosis Lactic acidosis Ragged-red muscle fibers Renal insufficiency Dilatation Conductive hearing impairment Mixed hearing impairment Abnormality of the ear Bilateral conductive hearing impairment Choroideremia Stapes ankylosis Dilatated internal auditory canal Retinopathy Congenital cataract Hypermetropia Hypopigmentation of the skin Neurodevelopmental delay Congenital blindness Cone-shaped epiphyses of the phalanges of the hand Muscular hypotonia Ptosis Myopathy Exercise intolerance Slurred speech Scoliosis Iris hypopigmentation Sinusitis Abnormality of dental enamel Schizophrenia Abnormal electroretinogram Aplasia/Hypoplasia of the cerebellum Vestibular dysfunction Decreased fertility Scotoma Peripheral visual field loss Bronchiectasis Chronic sinusitis Undetectable electroretinogram Tapetoretinal degeneration Hemianopia Subcortical cerebral atrophy Vestibular hypofunction Abnormal cochlea morphology Absent vestibular function Hallucinations Clumsiness Ophthalmoparesis Immunodeficiency Multiple lipomas Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Increased serum pyruvate Increased adipose tissue Flexion contracture Dysphagia Photophobia Psychosis Unsteady gait Neurodegeneration Cutaneous photosensitivity Telangiectasia Progressive muscle weakness Conjunctival telangiectasia Depressivity Anxiety Vegetative state


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