Hearing impairment, and Open mouth

Diseases related with Hearing impairment and Open mouth

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


Top matches:

Low match CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA


Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Low match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Low match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Low match ACRODYSOSTOSIS


Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

Low match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Low match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Low match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Low match MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Open mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Strabismus Feeding difficulties Downturned corners of mouth Low-set ears High palate Anteverted nares Hyperactivity Absent speech Sensorineural hearing impairment Epicanthus Autism Midface retrusion Brachydactyly Muscular hypotonia Hypoplasia of the corpus callosum Micrognathia Cryptorchidism Motor delay Feeding difficulties in infancy Growth delay Brachycephaly Short philtrum Ptosis Downslanted palpebral fissures Wide nasal bridge Scoliosis Short neck Behavioral abnormality Ventriculomegaly Visual impairment Everted lower lip vermilion Constipation Macrocephaly

Rare Symptoms - Less than 30% cases


Frontal upsweep of hair Delayed speech and language development Prominent nasal bridge Poor eye contact Cleft palate Abnormality of the ulna Facial palsy Arthrogryposis multiplex congenita Tented upper lip vermilion Mandibular prognathia Short nose Coloboma Myopathic facies Stereotypy Iris coloboma Generalized tonic-clonic seizures Cerebral atrophy Intellectual disability, severe Self-injurious behavior Delayed myelination Autistic behavior Deeply set eye Low hanging columella Bilateral sensorineural hearing impairment Skeletal muscle atrophy Eczema Upslanted palpebral fissure Abnormality of the nail Short toe Nystagmus Cerebellar hypoplasia Long philtrum Flexion contracture Small nail Neonatal hypotonia Abnormality of the pinna Dilatation Protruding ear Encephalopathy Myoclonus Aplasia/Hypoplasia of the thumb Multiple cafe-au-lait spots Aplasia/Hypoplasia of the radius High forehead Macrotia EEG abnormality Astigmatism Mask-like facies Attention deficit hyperactivity disorder Broad forehead Blepharitis Toe syndactyly Thick eyebrow Inability to walk Abnormality of the voice Short foot Generalized myoclonic seizures Multiple skeletal anomalies Ankle contracture Breast aplasia Abnormality of the sense of smell Kyphosis Aplasia/Hypoplasia of the tongue Pectus excavatum Areflexia Hyporeflexia Kyphoscoliosis Conductive hearing impairment Aplasia/Hypoplasia involving the metacarpal bones Proximal muscle weakness Telecanthus Blepharophimosis Restrictive deficit on pulmonary function testing Abnormality of the foot Talipes Long face Generalized muscle weakness Narrow forehead Short palpebral fissure Absent hand Congenital contracture Gowers sign Convex nasal ridge Malignant hyperthermia Febrile seizures Short chin Epileptic encephalopathy Hernia Focal impaired awareness seizure Hemiclonic seizures Frontal cortical atrophy Periventricular white matter hyperdensities Myopia Optic atrophy Abnormal electroretinogram Myopathy Cone/cone-rod dystrophy Abnormality of cardiovascular system morphology Rod-cone dystrophy Facial hypotonia Abnormality of the outer ear Posteriorly rotated ears Pointed chin Narrow mouth Cerebral visual impairment Congenital diaphragmatic hernia Focal-onset seizure Broad nasal tip Gastroesophageal reflux Thin upper lip vermilion Joint laxity Abnormality of visual evoked potentials Hypoglycemic seizures Broad-based gait Microdontia Heterotopia Hypermetropia Absence seizures Plagiocephaly Optic nerve hypoplasia Reduced number of teeth Cupped ear Infantile spasms Cranial nerve paralysis Hypogonadotrophic hypogonadism Abnormality of the periventricular white matter Dysphagia Large earlobe Agenesis of cerebellar vermis Ophthalmoplegia Corneal opacity Finger syndactyly Periventricular leukomalacia Abnormal corpus callosum morphology Clinodactyly of the 5th finger Talipes equinovarus Abnormality of nervous system morphology Happy demeanor Blindness Pseudoepiphysis of the thumb Respiratory insufficiency Recurrent infections Thin nail Tremor Intellectual disability, mild Prominent forehead Reduced visual acuity Aggressive behavior Unsteady gait Intellectual disability, profound Pachygyria Relative macrocephaly Hypospadias Subungual hyperkeratosis Polymicrogyria Highly arched eyebrow Cerebellar vermis hypoplasia Long palpebral fissure Enlarged cisterna magna Dilation of lateral ventricles Dilated fourth ventricle Cerebellar dysplasia Dysgenesis of the cerebellar vermis Anxiety Developmental regression Eclabion Hypergranulosis Synophrys Hypohidrosis Failure to thrive Alopecia Hyperkeratosis Erythema Paralysis Scarring Pruritus Nail dystrophy Ichthyosis Palmoplantar keratoderma Epidermal acanthosis Abnormality of the hair Congenital nonbullous ichthyosiform erythroderma Scaling skin Ectropion Erythroderma Keratitis Absent eyebrow Anhidrosis External genital hypoplasia Short finger Congenital ichthyosiform erythroderma Corneal erosion Lack of skin elasticity Pectus carinatum Chronic constipation Abnormality of the skeletal system Melanocytic nevus Hypogonadism Micromelia Delayed eruption of teeth Hypoplasia of the maxilla Short metacarpal Depressed nasal ridge Abnormal form of the vertebral bodies Accelerated skeletal maturation Abnormality of the metacarpal bones Hypoplasia of the radius Short metatarsal Cone-shaped epiphysis Hypoplastic thumbnail Hypoplasia of the ulna Open bite Abnormality of immune system physiology Spinal canal stenosis Epiphyseal stippling Menstrual irregularities Abnormality of female external genitalia Abnormality of the radius Muscle weakness Cognitive impairment Fever Peripheral neuropathy Absent nail of hallux Lumbar scoliosis Short thumb Asymmetry of the ears Malar flattening Wide mouth Short distal phalanx of finger Wide nose Thick vermilion border Tapered finger Full cheeks Prominent nose Wide intermamillary distance Broad thumb Low anterior hairline Tented philtrum Intellectual disability, progressive Adducted thumb Broad hallux Anonychia Global brain atrophy Short columella High anterior hairline Thick nasal alae Small thenar eminence Pseudoepiphyses Flat forehead Aplasia of the pectoralis major muscle



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Skin rash, related diseases and genetic alterations Motor delay and Inguinal hernia, related diseases and genetic alterations Hydrocephalus and Agenesis of corpus callosum, related diseases and genetic alterations Scoliosis and Neonatal hypotonia, related diseases and genetic alterations Growth delay and Hyperlipidemia, related diseases and genetic alterations Global developmental delay and Cutaneous photosensitivity, related diseases and genetic alterations Abnormal facial shape and Long face, related diseases and genetic alterations

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