Dysarthria, and Microtia

Diseases related with Dysarthria and Microtia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Other less relevant matches:

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

Low match ADNP SYNDROME

ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Microtia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Microtia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Downslanted palpebral fissures Microcephaly Short stature Feeding difficulties Wide nasal bridge Strabismus Absent speech Low-set ears Hypertelorism Long face Poor speech Neurological speech impairment Hyperactivity Abnormality of cardiovascular system morphology Autism Growth delay Epicanthus Short nose Thin upper lip vermilion Scoliosis Pes planus Hypermetropia Deeply set eye Small hand Autistic behavior Micrognathia Cataract Abnormal cardiac septum morphology Frontal bossing

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Obesity Micropenis Retrognathia Brachycephaly Muscular hypotonia Ventricular septal defect Inverted nipples Long palpebral fissure Hearing impairment High palate Bicuspid aortic valve Respiratory distress Anteverted nares Coloboma Eyelid coloboma Iris coloboma Visual impairment Glossoptosis Tracheoesophageal fistula Preauricular skin tag Choanal atresia Hypoplasia of the maxilla Conductive hearing impairment Respiratory insufficiency Abnormal heart morphology Patent ductus arteriosus Midface retrusion Malar flattening Atrial septal defect Cleft palate Delayed skeletal maturation Inguinal hernia Abnormality of the dentition Ptosis Deep philtrum Delayed myelination Facial asymmetry Abnormality of the skeletal system Motor delay Posteriorly rotated ears Upslanted palpebral fissure Narrow mouth Downturned corners of mouth Macrocephaly Everted lower lip vermilion Short foot Tapered finger Thick vermilion border Broad forehead Gastroesophageal reflux Failure to thrive Plagiocephaly Feeding difficulties in infancy Immunodeficiency Pierre-Robin sequence Stenosis of the external auditory canal Abnormality of the antihelix Skin tags Generalized myoclonic seizures Large earlobe Abnormal renal morphology Short neck Moderate global developmental delay Mandibulofacial dysostosis Accessory oral frenulum Prominent glabella Underdeveloped tragus Morphological abnormality of the middle ear Absent tragus Ventriculomegaly Microphthalmia Skeletal dysplasia Wide mouth Esophageal atresia Preaxial hand polydactyly Slender finger Abnormality of the outer ear Febrile seizures Pulmonic stenosis Bulbous nose Telecanthus Bifid uvula Abnormality of the foot Postnatal microcephaly Progressive microcephaly Proptosis Atresia of the external auditory canal Abnormality of the pinna Radioulnar synostosis Tall stature Trigonocephaly Cognitive impairment Overfolded helix Proximal placement of thumb Tremor Cupped ear Hyperlordosis Cleft upper lip Tented philtrum Hypoplasia of penis Sparse scalp hair Neonatal hypotonia Anxiety Joint laxity Muscular hypotonia of the trunk Smooth philtrum Astigmatism Joint hypermobility Hirsutism Growth hormone deficiency Thick lower lip vermilion Broad thumb Hernia Stereotypy Amblyopia Exotropia Cerebral visual impairment Widely spaced teeth Bilateral ptosis Language impairment Obsessive-compulsive behavior Narrow nasal bridge Generalized neonatal hypotonia Juvenile cataract Prominent forehead Recurrent infections Encephalocele Absent eyelashes Abnormality of the hair Low anterior hairline Aspartylglucosaminuria Scrotal hypoplasia Reduced number of teeth Abnormality of dental morphology Open bite Dysphasia Abnormality of the vertebral column Facial cleft Blepharospasm Depressed nasal bridge Hypoplasia of the zygomatic bone Rectovaginal fistula Hypoplasia of the thymus Thyroid hypoplasia Abnormality of the middle ear Abnormality of the adrenal glands Abnormality of bone mineral density Multiple enchondromatosis Branchial fistula Narrow internal auditory canal Short face Abnormality of dental enamel Abnormal cortical bone morphology Abnormality of amino acid metabolism Decreased muscle mass High forehead Delayed puberty Thick eyebrow Broad nasal tip Decreased testicular size Specific learning disability Gynecomastia Hypogonadotrophic hypogonadism Prominent supraorbital ridges Emotional lability Truncal obesity Pes cavus Misalignment of teeth Malar prominence Uplifted earlobe Short ear Clinodactyly Encephalopathy Hypospadias Long philtrum Hypoplasia of the corpus callosum Renal insufficiency Dilatation Hypogonadism Kyphosis Abnormality of the kidney Postaxial polydactyly Short attention span High anterior hairline Delayed ability to walk Pectus excavatum Hyporeflexia Constipation Polydactyly Craniosynostosis Tented upper lip vermilion Dolichocephaly Underdeveloped nasal alae Wide nasal ridge Wide intermamillary distance Hip dysplasia Open mouth Sacral dimple Sandal gap Oligodontia Overlapping toe Long eyelashes Epileptic encephalopathy Thickened nuchal skin fold Sparse lateral eyebrow Abnormality of the nervous system Stage 5 chronic kidney disease Anterior beaking of lumbar vertebrae Dyskinesia Focal-onset seizure Recurrent respiratory infections Mandibular prognathia Coarse facial features Umbilical hernia Arthritis Joint stiffness Pectus carinatum Carious teeth Malabsorption Sleep disturbance Postnatal macrocephaly Macroglossia Gingival overgrowth Abnormal vertebral morphology Chronic otitis media Thickened calvaria Abnormality of the ulna Macroorchidism Beaking of vertebral bodies Pain Large face Vascular skin abnormality Delayed gross motor development Splenomegaly Vesicoureteral reflux Chronic kidney disease Renal agenesis Ambiguous genitalia Oligohydramnios Renal hypoplasia Renal dysplasia Recurrent urinary tract infections Narrow face Spina bifida Horseshoe kidney Spina bifida occulta Abnormality of the urinary system Ectopic kidney Behavioral abnormality Poor eye contact Thickened helices Hyperechogenic kidneys Anteverted ears Uterus didelphys Hypoplastic helices Urethral valve Bifid ureter Decreased numbers of nephrons Hepatomegaly Intrauterine growth retardation Microtia, first degree


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