Hearing impairment, and Subcutaneous nodule

Diseases related with Hearing impairment and Subcutaneous nodule

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

Top matches:

KNUCKLE PADS-LEUKONYCHIA-SENSORINEURAL DEAFNESS-PALMOPLANTAR HYPERKERATOSIS SYNDROME Is also known as bart-pumphrey syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Bilateral sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KNUCKLE PADS-LEUKONYCHIA-SENSORINEURAL DEAFNESS-PALMOPLANTAR HYPERKERATOSIS SYNDROME

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Other less relevant matches:

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Low match LASSA FEVER

Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.

LASSA FEVER Is also known as lassa hemorrhagic fever|lf

Related symptoms:

  • Seizures
  • Hearing impairment
  • Fever
  • Fatigue
  • Diarrhea


SOURCES: MESH ORPHANET MENDELIAN

More info about LASSA FEVER

Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA 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

Top 5 symptoms//phenotypes associated to Hearing impairment and Subcutaneous nodule

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Papule Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Vertigo Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Flexion contracture Hypertension Cataract Visual impairment Sensory neuropathy Bilateral sensorineural hearing impairment Tinnitus Arthralgia Pain Increased intracranial pressure

Rare Symptoms - Less than 30% cases

Severe short stature Paralysis Strabismus Scoliosis Scleroderma Glaucoma Distal sensory impairment Hyperostosis Arthritis Sensorimotor neuropathy Skeletal dysplasia Lymphedema Myalgia Hyperkeratosis Headache Abnormality of the dentition Multiple lipomas Occasional neurofibromas Depressed nasal bridge Neoplasm of the skin Motor delay Blindness Ataxia Gait disturbance Facial palsy Corneal opacity Palmoplantar keratoderma Migraine Recurrent fractures Seizures Multiple cafe-au-lait spots Meningioma Abnormality of the retinal vasculature Astrocytoma Dysgraphia Neoplasm of the central nervous system Pseudoepiphyses of the metacarpals Fever Skin rash Nevus Abnormality of the metaphysis Osteopoikilosis Abnormality of epiphysis morphology Bone pain Hoarse voice Hemangioma Flat occiput Cutaneous finger syndactyly Atypical scarring of skin Generalized hypopigmentation Abnormal cortical bone morphology Abnormal aortic morphology Generalized limb muscle atrophy Abnormal bone structure Generalized osteosclerosis Peripheral Schwannoma Craniosynostosis Spinal cord tumor Oral-pharyngeal dysphagia Neurofibromas Hamartoma Axonal loss Subcapsular cataract Posterior subcapsular cataract Schwannoma Lisch nodules Cortical cataract Epiretinal membrane Ependymoma Decreased corneal sensation Joint stiffness Vestibular Schwannoma Neuroma Retinal hamartoma Mononeuropathy Bilateral vestibular Schwannoma Diffuse skin atrophy Unilateral vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Capsular cataract Skeletal muscle atrophy Renal insufficiency Connective tissue nevi Progressive sensorineural hearing impairment Complete duplication of the distal phalanges of the hand Severe sensorineural hearing impairment Scarring Retinopathy Pectus carinatum Retinal degeneration Bowing of the long bones Abnormality of retinal pigmentation Increased bone mineral density Mutism Elevated alkaline phosphatase Melanocytic nevus Thickened calvaria Hyperuricemia Premature loss of teeth Brachycephaly Ankylosis Abnormality of the clavicle Barrel-shaped chest Hyperphosphatemia Vertebral compression fractures Lower limb pain Cranial hyperostosis Rough bone trabeculation Limb pain Angioid streaks of the fundus Macular scar Elevated serum acid phosphatase Hydroxyprolinuria Respiratory failure Osteoporosis Abnormal axial skeleton morphology Hip dysplasia Nystagmus Abnormality of the skeletal system Long philtrum Hyporeflexia Prominent forehead Narrow mouth Osteopenia Hip dislocation Congenital cataract Genu valgum Thick eyebrow Sensory impairment Growth hormone deficiency Congenital hip dislocation Pneumonia Spondyloepiphyseal dysplasia Spinal canal stenosis Achalasia Fasting hypoglycemia Prelingual sensorineural hearing impairment Thoracic kyphoscoliosis Multiple skeletal anomalies Cervical spinal canal stenosis Periarticular subcutaneous nodules Global developmental delay Macrocephaly Optic atrophy Kyphosis Progressive hearing impairment Thrombocytopenia Cafe-au-lait spot Inflammatory abnormality of the skin Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Failure to thrive Edema Camptodactyly Autoimmunity Camptodactyly of finger Eczema Skin ulcer Angiokeratoma Vasculitis Hypercalcemia Rheumatoid arthritis Increased antibody level in blood Abnormality of the ear Abnormal joint morphology Optic neuropathy Uveitis Joint swelling Abnormal cranial nerve morphology Macular edema Angiokeratoma corporis diffusum Progressive distal muscle weakness Synovitis Distal muscle weakness Epidermal acanthosis Hypergranulosis Leukonychia Orthokeratotic hyperkeratosis Cranial nerve paralysis Benign neoplasm of the central nervous system Cognitive impairment Intellectual disability, mild Cerebral atrophy Coarse facial features Abnormality of the eye Abnormality of the cerebral white matter Motor polyneuropathy Dry skin Peripheral axonal neuropathy Thick vermilion border Polyneuropathy Cardiomegaly Thick lower lip vermilion Telangiectasia Aminoaciduria Opacification of the corneal stroma Axonal degeneration Telangiectasia of the skin Abnormality of the periventricular white matter Juvenile rheumatoid arthritis Cystoid macular edema Progressive visual loss Gastrointestinal hemorrhage Lack of skin elasticity Stiff skin Entrapment neuropathy Fatigue Diarrhea Abdominal pain Cough Lethargy Nausea and vomiting Lymphadenopathy Chest pain Spontaneous abortion Impaired pain sensation Conjunctivitis Leukopenia Pleural effusion Palpebral edema Cardiorespiratory arrest Recurrent pharyngitis Menometrorrhagia Chemosis Neoplasm Visual loss Reduced visual acuity Generalized muscle weakness Abnormality of lipid metabolism Abnormality of the musculature Abducens palsy Nongranulomatous uveitis Flexion contracture of toe Granulomatosis Band keratopathy Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Midface retrusion Aplasia/Hypoplasia of the skin Narrow chest Retinal detachment Limitation of joint mobility Type II diabetes mellitus Hypertrichosis Thickened skin Nephrolithiasis Lipodystrophy Ectopia lentis Mild short stature Decreased muscle mass Lipoatrophy Hydroxyprolinemia


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