Hearing impairment, and Ichthyosis

Diseases related with Hearing impairment and Ichthyosis

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

Top matches:

Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.

AUTOSOMAL DOMINANT KERATITIS Is also known as hereditary keratitis

Related symptoms:

  • Hearing impairment
  • Corneal opacity
  • Ichthyosis
  • Opacification of the corneal stroma
  • Keratitis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KERATITIS

Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.

KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS Is also known as keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|loricrin keratoderma|vohwinkel syndrome with ichthyosis|camisa disease|mutilating keratoderma with ichthyosis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hyperkeratosis
  • Erythema
  • Nail dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS

ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Is also known as hid syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Alopecia
  • Pes cavus
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

HYPERPROLINEMIA TYPE 1 Is also known as hpi|proline oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPROLINEMIA TYPE 1

Low match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Intellectual disability Erythroderma Palmoplantar keratoderma Pes cavus

Rare Symptoms - Less than 30% cases

Alopecia Cataract Cleft lip Seizures Facial asymmetry Hypogonadotrophic hypogonadism Hypogonadism Anosmia Hypotrichosis Papule Cleft palate Honeycomb palmoplantar keratoderma Keratitis Amniotic constriction ring Palmoplantar hyperkeratosis Erythema Leydig cell insensitivity to gonadotropin Eunuchoid habitus Hyposmia Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Abnormal facial shape Decreased circulating follicle stimulating hormone level Alobar holoprosencephaly Decreased circulating luteinizing hormone level Anodontia Olfactory lobe agenesis Failure to thrive Hypothalamic gonadotropin-releasing hormone deficiency Total anosmia Sparse pubic hair Unilateral renal agenesis Bilateral cryptorchidism Delayed puberty Ainhum Epidermal thickening Ataxia Cryptorchidism High palate Micropenis Abnormality of the eye Abnormality of eye movement Short nose Oral cleft Renal agenesis Decreased testicular size Hypotelorism Gynecomastia Holoprosencephaly Azoospermia Opacification of the corneal stroma Depressed nasal bridge Short distal phalanx of finger Autoimmunity Insulin resistance Proximal muscle weakness Myalgia Distal muscle weakness Hepatic steatosis Waddling gait Hypertriglyceridemia Progressive muscle weakness Fasciculations Difficulty walking Exercise intolerance Hyperlipidemia Easy fatigability Psoriasiform dermatitis Gowers sign Difficulty running Neck muscle weakness Progressive proximal muscle weakness Elevated hepatic transaminase Diabetes mellitus Abnormality of the spinal cord Pain Short phalanx of finger Systemic lupus erythematosus Abnormality of the vertebral column Epiphyseal stippling Vitamin K deficiency Short nasal septum Maternal autoimmune disease Muscle weakness Hepatomegaly Elevated serum creatine phosphokinase Skeletal muscle atrophy Fatigue Cardiomyopathy Myopathy Congestive heart failure Recurrent infections Obesity Areflexia Autoamputation of digits Leukonychia Plantar hyperkeratosis Long-tract signs Esotropia Bilateral sensorineural hearing impairment Broad-based gait Coxa valga Brittle hair Coronal craniosynostosis Slow-growing hair Mild intrauterine growth retardation Dry skin Tiger tail banding Parakeratosis Congenital ichthyosiform erythroderma Neoplasm Muscular hypotonia Delayed speech and language development Behavioral abnormality Hyperactivity Microcornea Small for gestational age Proteinuria Squamous cell carcinoma Orthokeratosis Scarring Facial erythema Thick nail Sparse and thin eyebrow Sparse eyelashes Recurrent skin infections Absent eyelashes Intellectual disability, moderate Scarring alopecia of scalp Punctate keratitis Cobblestone-like hyperkeratosis Hypergranulosis Congenital nonbullous ichthyosiform erythroderma Nystagmus Motor delay Delayed skeletal maturation EEG abnormality Aggressive behavior Autoamputation Cognitive impairment Hepatic fibrosis Abnormal intestine morphology Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Decreased serum ceruloplasmin Corneal opacity Inflammatory abnormality of the eye Cirrhosis Thickened skin Abnormality of the nail Hypoplasia of the fovea Osteolysis Mutism Self-injurious behavior Abnormal toenail morphology Xanthomatosis Cholestasis High forehead Nephropathy Bruxism Sleep disturbance Status epilepticus Hemiparesis Stereotypy Severe muscular hypotonia Schizophrenia Nephritis Nephroblastoma Motor deterioration Upslanted palpebral fissure Hyperglycinuria Hydroxyprolinuria Prolinuria Hyperprolinemia Growth delay Nail dystrophy Peripheral neuropathy Diarrhea Increased muscle lipid content


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