Dysarthria, and Downturned corners of mouth

Diseases related with Dysarthria and Downturned corners of mouth

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

Top 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

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

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

Other less relevant matches:

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

Top 5 symptoms//phenotypes associated to Dysarthria and Downturned corners of mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Downturned corners of mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Downslanted palpebral fissures Short stature Hypertelorism Epicanthus Deeply set eye Absent speech Cryptorchidism Aggressive behavior Hyperactivity Hearing impairment Posteriorly rotated ears Depressed nasal bridge Smooth philtrum Wide mouth Long eyelashes High palate Hypermetropia Delayed myelination Broad nasal tip Growth delay Intrauterine growth retardation Abnormality of the skeletal system Spasticity Gastroesophageal reflux Feeding difficulties Micrognathia Constipation Short nose Thin upper lip vermilion Sensorineural hearing impairment Upslanted palpebral fissure Everted lower lip vermilion Clinodactyly

Rare Symptoms - Less than 30% cases

Pain Speech apraxia Gait disturbance Broad thumb Thick eyebrow Highly arched eyebrow Cerebellar hypoplasia Macrotia Pes planus Bulbous nose Synophrys Tented upper lip vermilion Prominent forehead Long face High forehead Hypothyroidism Small hand Short attention span Hypospadias High pitched voice Small for gestational age Broad columella Long philtrum Sandal gap Delayed skeletal maturation Neonatal hypotonia Intellectual disability, severe Delayed ability to walk Stereotypy Apraxia Triangular face Dysmetria Neurological speech impairment Prominent nasal bridge Narrow mouth Kyphoscoliosis Broad-based gait Muscular hypotonia of the trunk Obesity Unsteady gait Ptosis Cerebral atrophy Dysphagia Anteverted nares Esotropia Ataxia Generalized tonic-clonic seizures Myopia Hypoplasia of the corpus callosum Macrocephaly Short palpebral fissure Low posterior hairline Interphalangeal joint contracture of finger Recurrent otitis media Coarctation of aorta Short thumb Focal myoclonic seizures Generalized hirsutism Finger clinodactyly Nephrocalcinosis Abnormality of the fingernails Abnormality of the hand Nasal speech Abnormality of the voice Trigonocephaly Language impairment Clubbing Impulsivity Preauricular pit Celiac disease Hypoplasia of penis Underdeveloped nasal alae Microdontia Feeding difficulties in infancy Facial diplegia High hypermetropia Mandibular prognathia Umbilical hernia Conductive hearing impairment Hydronephrosis Arthritis Anxiety Joint laxity Telecanthus Intellectual disability, moderate Postnatal growth retardation Otitis media Joint stiffness Craniosynostosis Camptodactyly of finger Short philtrum Malabsorption Poor speech Joint hyperflexibility Thin vermilion border Hirsutism Hypoplasia of the maxilla Prominent nose Dental malocclusion Proportionate short stature Short columella Short clavicles Widely spaced teeth Midface retrusion Pointed chin Narrow palpebral fissure Failure to thrive Peripheral neuropathy Hypertonia Hyporeflexia Cerebral cortical atrophy Autism Open mouth Progressive microcephaly Prominent supraorbital ridges Generalized cerebral atrophy/hypoplasia Progressive spasticity Tics Happy demeanor Encephalopathy Microtia Thick vermilion border Short foot Tapered finger Epileptic encephalopathy Plagiocephaly High anterior hairline Mesocardia Abnormal soft palate morphology Sprengel anomaly Tethered cord Lipoma Cone-shaped epiphyses of the phalanges of the hand Clinodactyly of the 5th finger Abnormality of the clavicle Paralysis Enuresis Villous atrophy 11 pairs of ribs Enlarged joints Hyperextensibility of the finger joints Facial palsy Stiff neck Broad fingertip Spinal dysraphism Short upper lip Expressive language delay Varicocele Persistent left superior vena cava Pseudoarthrosis Congenital pseudoarthrosis of the clavicle Congenital posterior urethral valve Epididymal cyst Enlarged naris Curved fingers Babinski sign Dilatation Inguinal hernia Developmental regression Inability to walk Cavum septum pellucidum Diastema Unilateral cryptorchidism Cerebellar atrophy Paraplegia Micropenis Abnormality of the foot Spastic paraplegia Hip dislocation Astigmatism Single umbilical artery Difficulty walking Vesicoureteral reflux Decreased fetal movement Kyphosis Short chin Abnormality of the genitourinary system Poor head control Deep philtrum Overfolded helix Myopathic facies Dystonia Volvulus Slender finger Pain insensitivity Abnormality of the pinna Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Ventriculomegaly Exophoria Structural foot deformity Puberty and gonadal disorders Cerebral white matter atrophy Overweight Progressive spastic paraplegia Fasciculations Lower limb spasticity Low anterior hairline Coloboma Abnormal cardiac septum morphology Tetraparesis Lumbar hyperlordosis Waddling gait Urinary incontinence Intestinal malrotation Wide intermamillary distance High myopia Generalized myoclonic seizures Retinal dystrophy Inverted nipples Oval face Abnormal heart morphology Hyperreflexia Esophoria Ketoacidosis Down-sloping shoulders Maternal diabetes Prominent superficial veins Recurrent hypoglycemia Kinetic tremor Increased vertebral height Neoplasm Cognitive impairment Hypertension Brachydactyly Polyuria Wide nasal bridge Short neck Atrial septal defect Vomiting Abnormality of the dentition Intellectual disability, mild Headache Nystagmus Abnormality of cardiovascular system morphology High-frequency hearing impairment Facial paralysis Brisk reflexes Hyperglycemia Horizontal eyebrow Accommodative esotropia Overfolding of the superior helices Broad chin Talipes equinovarus Tremor Pectus excavatum Diabetes mellitus Gait ataxia Muscular hypotonia Scoliosis Hyperlordosis Sparse hair Delayed puberty Hypoplasia of the brainstem Full cheeks Round face Hypotelorism Blue sclerae Renal hypoplasia Fine hair Abnormal vertebral morphology Truncal ataxia Type I diabetes mellitus Oligodontia Polydipsia Tented philtrum


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