Low-set ears, and Dysarthria

Diseases related with Low-set ears and Dysarthria

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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

Other less relevant matches:

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Top 5 symptoms//phenotypes associated to Low-set ears and Dysarthria

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Dysarthria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Strabismus Synophrys Cryptorchidism Hypertelorism High palate Ptosis Downslanted palpebral fissures Absent speech Posteriorly rotated ears Smooth philtrum Dysmetria Cerebellar hypoplasia Ataxia Gastroesophageal reflux Difficulty walking Dysphagia Aggressive behavior Epicanthus Feeding difficulties Bulbous nose Broad nasal tip Thick lower lip vermilion Downturned corners of mouth

Rare Symptoms - Less than 30% cases

Frontal bossing Depressed nasal bridge Behavioral abnormality Ventriculomegaly Hypoplasia of the corpus callosum Slender finger Spasticity Nystagmus Cerebellar atrophy Constipation Hearing impairment Hyperactivity Narrow mouth Deeply set eye Neonatal hypotonia Autistic behavior Unsteady gait Long face Generalized myoclonic seizures Micrognathia Tremor Cognitive impairment Gait disturbance Encephalopathy Microcephaly Thick eyebrow Prominent forehead Wide mouth Wide intermamillary distance Abnormality of the pinna Drooling Thin upper lip vermilion Gait ataxia Visual impairment High myopia Broad-based gait Vesicoureteral reflux Myopia Cerebral visual impairment Narrow forehead Prominent nasal bridge Coloboma Cavum septum pellucidum Overfolding of the superior helices Splenomegaly Broad chin Pain Diarrhea Unilateral cryptorchidism Flexion contracture Diastema Hepatomegaly Short neck Delayed myelination Inverted nipples Horizontal eyebrow High forehead Astigmatism Decreased fetal movement Neurological speech impairment Joint stiffness Apraxia Stereotypy Short chin Muscular hypotonia of the trunk Abnormality of the genitourinary system Oval face Poor head control Long palm Deep philtrum Overfolded helix Myopathic facies Delayed ability to walk Triangular face Pain insensitivity Micropenis Coarse facial features Long hallux Hirsutism Dental crowding Facial asymmetry Abnormality of movement Arachnodactyly High, narrow palate Recurrent fractures Postural instability Bifid uvula Webbed neck Intellectual disability, profound Tall stature Hyperpigmentation of the skin Pectus carinatum Narrow face Spontaneous abortion Narrow palm Nasal speech Sparse eyebrow Decreased muscle mass Disproportionate tall stature Long fingers Epileptic spasms Slender build Hyperextensibility of the finger joints Short philtrum Camptodactyly Sleep disturbance Speech apraxia Hypertrichosis Chronic diarrhea Progressive hearing impairment Recurrent upper respiratory tract infections Coarse hair Growth abnormality Small earlobe Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Intellectual disability, moderate Focal motor seizures Cellular metachromasia Muscular hypotonia Cleft palate Talipes equinovarus Pectus excavatum Myoclonus Osteoporosis Brachycephaly Mandibular prognathia Kyphoscoliosis Dysostosis multiplex Intrauterine growth retardation Volvulus Paralysis Diplopia Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Sensorineural hearing impairment Short nose Midface retrusion Facial palsy Hypermetropia Epileptic encephalopathy Esotropia High hypermetropia Facial diplegia Facial paralysis High-frequency hearing impairment Esophoria Accommodative esotropia Macrocephaly Edema Generalized-onset seizure Chorea Long philtrum Progressive spasticity Failure to thrive Hyperreflexia Babinski sign Spastic paraplegia Generalized tonic-clonic seizures Febrile seizures Hypotelorism Postnatal microcephaly Severe muscular hypotonia Abnormal CNS myelination Progressive cerebellar ataxia Nasogastric tube feeding in infancy Scoliosis Motor delay Wide nasal bridge Syndactyly Clinodactyly Toe syndactyly Small hand Tapered finger Intellectual disability, mild Cerebral cortical atrophy Single umbilical artery Blepharophimosis Optic atrophy Ventricular septal defect Microphthalmia Hypospadias Abnormal heart morphology Autism Low-set, posteriorly rotated ears Postnatal growth retardation Cerebellar vermis hypoplasia Segmental myoclonic seizures Broad eyebrow Macrotia Pes planus Abnormal cardiac septum morphology Highly arched eyebrow Intestinal malrotation Broad thumb Long eyelashes Low anterior hairline Growth delay Hypoplastic hippocampus Protruding ear Palpebral edema Abnormal pyramidal sign Broad forehead Wide nose Memory impairment Intention tremor Depressed nasal ridge Pointed chin Infantile muscular hypotonia Brisk reflexes Large forehead Hippocampal atrophy Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Asymmetry of the ears


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