Hearing impairment, and Macular degeneration

Diseases related with Hearing impairment and Macular degeneration

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

Top matches:

Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.

RETINITIS PIGMENTOSA 38; RP38 Is also known as rod-cone dystrophy, childhood-onset

Related symptoms:

  • Hearing impairment
  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 38; RP38

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL

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:

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

DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 Is also known as nsrd2|neurosensory nonsyndromic recessive deafness 2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Rod-cone dystrophy
  • Vertigo
  • Retinal degeneration


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Top 5 symptoms//phenotypes associated to Hearing impairment and Macular degeneration

Symptoms // Phenotype % cases
Progressive visual loss Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macular atrophy Blindness Reduced visual acuity Motor delay Muscle weakness Intellectual disability Seizures Generalized hypotonia Short stature Abnormality of the dentition Retinal degeneration Progressive hearing impairment Visual loss Retinal dystrophy Visual impairment Optic atrophy Nyctalopia

Rare Symptoms - Less than 30% cases

Micrognathia Kyphosis Areflexia Feeding difficulties Elevated serum creatine phosphokinase Ptosis Growth delay Osteopenia Cardiomyopathy Hypertension Gait disturbance Proteinuria Joint laxity Pain Macrocephaly Premature loss of teeth Respiratory failure Recurrent fractures Increased bone mineral density Microphthalmia Rough bone trabeculation Scoliosis Abnormal retinal morphology Optic disc pallor Visual field defect Dyschromatopsia Photophobia Renal insufficiency Retinopathy Cataract Talipes Microdontia Cleft palate Cryptorchidism Cone/cone-rod dystrophy Low-set ears Amblyopia Delayed speech and language development Recurrent otitis media Depressed nasal bridge Epicanthus Intrauterine growth retardation Talipes equinovarus Atrial septal defect Dilated cardiomyopathy Intellectual disability, severe Intellectual disability, mild Delayed myelination Constriction of peripheral visual field Abnormal heart morphology Posteriorly rotated ears Narrow mouth Hypothyroidism Bulbous nose Thin upper lip vermilion Postnatal growth retardation Blepharophimosis Microtia Abnormal facial shape Tremor Microcephaly Osteopetrosis Broad femoral neck Short sternum Delayed closure of the anterior fontanelle Craniofacial hyperostosis Broad ribs Facial paralysis Abnormal cranial nerve morphology Narrow iliac wings Obstructive sleep apnea Irregular vertebral endplates Proportionate short stature Thin ribs Natal tooth Disproportionate short stature Diaphyseal thickening Sclerosis of skull base Progressive bowing of long bones Short diaphyses Widely spaced teeth Increased intervertebral space Sclerosis of hand bone Sclerotic scapulae Abnormal metaphyseal trabeculation Clavicular sclerosis Absent paranasal sinuses Vertebral hypoplasia Optic nerve compression Cranial nerve compression Parietal bossing Delayed eruption of primary teeth Absent frontal sinuses Hypoplastic vertebral bodies Abducens palsy Torticollis Scrotal hypoplasia Abnormality of the outer ear Cardiomegaly Scapular winging EMG abnormality Aspiration Progressive muscle weakness Ventricular hypertrophy Type II diabetes mellitus Abnormality of the cardiovascular system Respiratory insufficiency due to muscle weakness Peripheral demyelination Urinary incontinence Macroglossia Generalized muscle weakness Limb muscle weakness Muscular dystrophy Atherosclerosis Delayed gross motor development Paralysis Stroke-like episode Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Pelvic girdle muscle weakness Wolff-Parkinson-White syndrome Atrioventricular block Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Emphysema Nasal speech Stroke Hypertrophic cardiomyopathy Flared metaphysis Multiple bladder diverticula Skeletal muscle atrophy Fever Hepatomegaly Cognitive impairment Muscular hypotonia Failure to thrive Neonatal asphyxia Dysphagia Abnormal palmar dermatoglyphics Epicanthus inversus Patellar hypoplasia Hypoplasia of teeth Congenital hypothyroidism Prominent occiput Heart murmur Fatigue Respiratory insufficiency Myalgia Acidosis Proximal muscle weakness Conductive hearing impairment EEG abnormality Hypoglycemia Difficulty walking Gastroesophageal reflux Dyspnea Myopathy Recurrent respiratory infections Arrhythmia Abnormality of metabolism/homeostasis Dilatation Headache Splenomegaly Congestive heart failure Aplasia/Hypoplasia of the skin Abnormality of dental enamel Increased susceptibility to fractures Neurodevelopmental delay Stage 5 chronic kidney disease Confusion Joint hyperflexibility Coloboma Abnormality of the kidney Hypopigmentation of the skin Hydronephrosis Retinal detachment Glaucoma High hypermetropia Edema Hydrocephalus Myopia Congenital blindness Nephropathy Gliosis Cone-shaped epiphyses of the phalanges of the hand Chronic kidney disease Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Nephritis Hyperextensible skin Abnormality of the genitourinary system Vesicoureteral reflux Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Renal dysplasia Abnormality of the genital system Renal hypoplasia Strabismus Ataxia Multiple renal cysts Peripheral axonal neuropathy Sensory impairment Polyneuropathy Sensory neuropathy Distal sensory impairment Distal amyotrophy Falls Paresthesia Broad-based gait Lower limb muscle weakness Distal muscle weakness Pallor Pes cavus Peripheral neuropathy Dysarthria Bilateral sensorineural hearing impairment Frequent falls Abnormality of skin pigmentation Congenital nystagmus Vertigo Segmental peripheral demyelination/remyelination Abnormal nerve conduction velocity Kinetic tremor Areflexia of lower limbs Excessive daytime somnolence Optic neuropathy Sensorimotor neuropathy Impaired pain sensation Onion bulb formation Mildly elevated creatine phosphokinase Skeletal muscle hypertrophy Language impairment Paraparesis Abnormality of the vasculature Elevated serum creatinine Dermal atrophy Lower limb pain Hydroxyprolinuria Elevated serum acid phosphatase Macular scar Angioid streaks of the fundus Limb pain Cranial hyperostosis Vertebral compression fractures Hypertelorism Hyperphosphatemia Barrel-shaped chest Abnormality of the clavicle Ankylosis Drusen Severe sensorineural hearing impairment Hydroxyprolinemia Peripheral visual field loss Thickened calvaria Delayed eruption of teeth Oligodontia Cerebellar atrophy Short ribs Abnormality of the metaphysis Cerebral calcification Round face Narrow chest High palate Platyspondyly Developmental regression Skeletal dysplasia Prominent forehead Ventricular septal defect Frontal bossing Hyperuricemia Hyperostosis Hydrocele testis Bilateral renal hypoplasia Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Optic nerve dysplasia Mild proteinuria Lens luxation Recurrent pyelonephritis Platybasia Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Macular hyperpigmentation Ureterovesical junction obstruction Melanocytic nevus Pectus carinatum Elevated alkaline phosphatase Mutism Peripheral retinal atrophy Abnormality of retinal pigmentation Subcutaneous nodule Bowing of the long bones Scarring Hypermetropia Arthralgia Retinal atrophy Brachycephaly Osteoporosis Severe short stature Pneumonia Firm muscles


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