Hearing impairment, and Esotropia

Diseases related with Hearing impairment and Esotropia

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

Top matches:

Duane retraction syndrome (DURS) is a congenital disorder characterized by restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction. DURS is observed in approximately 0.1% of the general population, accounts for 1 to 5% of all strabismus, and if untreated in childhood can result in loss of binocular vision and amblyopia. Postmortem examinations of individuals with sporadic DURS have shown absence of the abducens motor neurons and abducens cranial nerve on the affected side(s), and aberrant innervation of the lateral rectus by axons of the oculomotor nerve that normally innervate the medial rectus muscle. Most patients are affected unilaterally and have no family history of the disorder (summary by Miyake et al., 2010).For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (OMIM ).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about DUANE RETRACTION SYNDROME 2; DURS2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Other less relevant matches:

HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Ptosis

Rare Symptoms - Less than 30% cases

Epicanthus High palate Anteverted nares Pes cavus Paralysis Short stature Low-set ears Facial paralysis Dysphagia Abnormal facial shape Hypermetropia Amblyopia Delayed speech and language development Developmental regression Optic atrophy Slurred speech Mental deterioration Oral-pharyngeal dysphagia Impulsivity Stridor Generalized tonic-clonic seizures Abnormality of eye movement Hemiplegia Muscle stiffness Abnormal autonomic nervous system physiology Migraine Tetraplegia Bradycardia Exotropia Parkinsonism Involuntary movements Choreoathetosis Chorea Status epilepticus Hemiparesis Generalized hypotonia Anhidrosis Abnormality of the liver Polar cataract Primary adrenal insufficiency Adrenal insufficiency Abnormality of neuronal migration Abnormal palate morphology Bilateral single transverse palmar creases Wide anterior fontanel Decreased liver function Abnormality of retinal pigmentation High, narrow palate Retinal dystrophy Abnormality of movement Dolichocephaly Severe global developmental delay Low-set, posteriorly rotated ears Wheezing Cataract Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Episodic hemiplegia Dyspnea Muscular hypotonia Visual impairment EEG abnormality Hyperreflexia Wide nasal bridge Macrocephaly Frontal bossing Abnormality of metabolism/homeostasis High forehead Abnormality of the eye Ataxia Hyperhidrosis Short attention span Broad-based gait Bilateral sensorineural hearing impairment Microcornea Ichthyosis Dry skin Small for gestational age Intellectual disability, moderate Delayed skeletal maturation Motor delay Microcephaly Hyperplasia of the maxilla Open bite Brittle hair Dental crowding Psychosis Poor speech Abnormality of the dentition Intellectual disability, severe Upper eyelid retraction Eyelid retraction Fourth cranial nerve palsy Duane anomaly Congenital ptosis Cranial nerve paralysis Abnormality of the nervous system Coxa valga Coronal craniosynostosis Areflexia High hypermetropia Recurrent infections Headache Immunodeficiency Dystonia Respiratory distress Fatigue Cognitive impairment Pain Accommodative esotropia Esophoria High-frequency hearing impairment Facial diplegia Downturned corners of mouth Slow-growing hair Smooth philtrum Facial palsy Posteriorly rotated ears Midface retrusion Short nose Dysarthria Depressed nasal bridge Feeding difficulties Micrognathia Tiger tail banding Mild intrauterine growth retardation Long-tract signs Elevated long chain fatty acids


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