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 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cerebral palsy, spastic quadriplegic, 5, formerly;cpsq5, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO OMIM DOID UMLS

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

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: GARD MONDO OMIM UMLS

More info about FG SYNDROME 4; FGS4

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS DOID ORPHANET OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

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: MONDO UMLS DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Low match TEMPLE-BARAITSER SYNDROME; TMBTS

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; TMBTS Is also known as mental retardation, severe, and absent nails of hallux and pollex;severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; tmbts

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: SCTID EFO MESH MONDO GARD OMIM ORPHANET UMLS

More info about TEMPLE-BARAITSER SYNDROME; TMBTS

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 Is also known as mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20

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 SCTID UMLS

More info about ACRODYSOSTOSIS

Low match WHITE-SUTTON SYNDROME; WHSUS

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).

WHITE-SUTTON SYNDROME; WHSUS Is also known as mental retardation, autosomal dominant 37;mrd37;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: EFO UMLS OMIM ORPHANET MONDO DOID

More info about WHITE-SUTTON SYNDROME; WHSUS

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 congenital facial diplegia; möbius syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Motor delay
  • Muscular hypotonia


SOURCES: ORPHANET

More info about MOEBIUS SYNDROME

Low match ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: UMLS OMIM MONDO NCIT

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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


Short stature

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Anteverted nares Absent speech Autosomal dominant inheritance Short philtrum Feeding difficulties Midface retrusion Autism Wide nasal bridge Hypoplasia of the corpus callosum Hyperactivity Sensorineural hearing impairment Downturned corners of mouth Epicanthus Muscular hypotonia Macrocephaly Facial hypotonia Short neck Cryptorchidism Scoliosis Constipation Short nose Neonatal hypotonia Pica Oxycephaly Visual impairment Intellectual disability, severe Ventriculomegaly Feeding difficulties in infancy Delayed speech and language development High palate Mandibular prognathia Brachycephaly

Rare Symptoms - Less than 30% cases


Autistic behavior Behavioral abnormality Delayed myelination Autosomal recessive inheritance Spinal canal stenosis Ptosis Melanocytic nevus Hypogonadism Delayed eruption of teeth Hypoplasia of the maxilla Short metacarpal Everted lower lip vermilion Iris coloboma Accelerated skeletal maturation Coloboma Short metatarsal Low-set ears Downslanted palpebral fissures Motor delay Epiphyseal stippling Bilateral sensorineural hearing impairment Abnormality of the ulna Menstrual irregularities Optic atrophy Poor eye contact Broad nasal tip Cerebral atrophy Frontal upsweep of hair Prominent nasal bridge Febrile seizures Long philtrum Micrognathia Abnormality of the periventricular white matter Nystagmus Upslanted palpebral fissure Cerebellar hypoplasia Talipes equinovarus Inability to walk Wide mouth Breast aplasia Dislocated radial head Broad palm Abnormality of immune system physiology Dextrocardia Disproportionate short-limb short stature Abnormality of the radius Short phalanx of finger Dental malocclusion Abnormality of female external genitalia Myopia Blindness Small hand Abnormality of cardiovascular system morphology Hernia Rod-cone dystrophy Posteriorly rotated ears Mixed hearing impairment Hypoplasia of the ulna Cone-shaped epiphysis Depressed nasal ridge Periventricular white matter hyperdensities Peripheral neuropathy Mild postnatal growth retardation Narrow vertebral interpedicular distance Calvarial hyperostosis Micromelia Thyroid hypoplasia Hypoplastic vertebral bodies Abnormal form of the vertebral bodies Long hallux Open bite Constrictive median neuropathy Abnormality of the nail Short toe Elevated circulating parathyroid hormone level Blue irides Abnormality of the metacarpal bones Hypoplasia of the radius Cone-shaped epiphyses of the phalanges of the hand Mild short stature Abnormality of the genital system Narrow mouth Hypermetropia Gastroesophageal reflux Abnormality of the voice Facial palsy Finger syndactyly Arthrogryposis multiplex congenita Corneal opacity Ophthalmoplegia Death in infancy Microdontia Hypogonadotrophic hypogonadism Cranial nerve paralysis Happy demeanor Aplasia of the pectoralis major muscle Reduced number of teeth Mask-like facies Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the tongue Abnormality of the sense of smell Absent hand Aplasia/Hypoplasia of the radius Multiple cafe-au-lait spots Clinodactyly of the 5th finger Dysphagia Thin upper lip vermilion Cone/cone-rod dystrophy Joint laxity Blepharitis Astigmatism Focal seizures Congenital diaphragmatic hernia Cortical visual impairment Pointed chin Abnormal electroretinogram Hypodontia Abnormality of the outer ear Skeletal muscle atrophy Short palm Hypothyroidism Hydrocephalus Focal seizures with impairment of consciousness or awareness Self-injurious behavior Abnormality of visual evoked potentials Milia Hypoglycemic seizures Cleft palate Hemiclonic seizures Flat forehead Abnormal corpus callosum morphology Highly arched eyebrow Aggressive behavior X-linked inheritance Unsteady gait Pachygyria Intellectual disability, profound Relative macrocephaly Hypospadias Recurrent infections Abnormality of the pinna Polymicrogyria Eczema Prominent forehead Cerebellar vermis hypoplasia Stereotypy Long palpebral fissure Enlarged cisterna magna Dilation of lateral ventricles Cerebellar dysplasia Dilated fourth ventricle Dysgenesis of the cerebellar vermis Anxiety Developmental regression Pectus carinatum Reduced visual acuity Intellectual disability, mild Chronic constipation Slow progression Spasticity Flexion contracture Hyperreflexia Dysarthria Hypertonia Dystonia Babinski sign Congenital onset Coarse facial features Pes planus Spastic paraplegia Tremor Bulbous nose Paraplegia Tetraplegia Waddling gait Narrow forehead Spastic tetraplegia Protruding tongue Genu recurvatum Excessive salivation Acetabular dysplasia Everted upper lip vermilion Synophrys Lumbar scoliosis Periventricular leukomalacia Broad forehead Hypoplastic thumbnail Growth delay Encephalopathy Dilatation Myoclonus Macrotia EEG abnormality Sporadic Protruding ear Attention deficit hyperactivity disorder Thick eyebrow Pseudoepiphysis of the thumb Short foot Convex nasal ridge Generalized myoclonic seizures Epileptic encephalopathy Heterotopia Absence seizures Plagiocephaly Tented upper lip vermilion Short chin Infantile spasms Large earlobe Absent nail of hallux Pseudoepiphyses Asymmetry of the ears Small nail Infantile onset Malar flattening Short distal phalanx of finger Tapered finger Wide nose Thick vermilion border Full cheeks Wide intermamillary distance Prominent nose Broad thumb Short thumb Small thenar eminence Low anterior hairline Intellectual disability, progressive Adducted thumb Broad hallux Myopathic facies Global brain atrophy Anonychia Short columella Low hanging columella High anterior hairline Thick nasal alae Neonatal epiphyseal stippling



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other signs and symptoms that you may find interesting

Hydrocephalus and Thick lower lip vermilion, related diseases and genetic alterations Depressed nasal bridge and Underdeveloped nasal alae, related diseases and genetic alterations Ptosis and Hepatomegaly, related diseases and genetic alterations Cleft palate and Intrauterine growth retardation, related diseases and genetic alterations Generalized hypotonia and Skeletal dysplasia, related diseases and genetic alterations Generalized hypotonia and Atrial septal defect, related diseases and genetic alterations