Dysarthria, and Bulbous nose

Diseases related with Dysarthria and Bulbous nose

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


Top matches:

High match DYSTONIA 28, CHILDHOOD-ONSET; DYT28


Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

High match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

High 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 cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

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Other less relevant matches:

High match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

High match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


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

High match SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

High match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM 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

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


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

High match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Top 5 symptoms//phenotypes associated to Dysarthria and Bulbous nose

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

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Microcephaly Spasticity Absent speech Nystagmus Ataxia Strabismus High palate Talipes equinovarus Pes planus Hypoplasia of the corpus callosum Smooth philtrum Muscular hypotonia Ventriculomegaly Downslanted palpebral fissures Intellectual disability, severe Hypertonia Neonatal hypotonia Narrow forehead Short philtrum Spastic paraplegia Paraplegia Protruding ear Hypertelorism Low-set ears Wide mouth Difficulty walking Dystonia Ptosis Gait disturbance

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Impaired social interactions Cerebellar hypoplasia Constipation Long philtrum Cerebellar atrophy Anteverted nares Motor delay Tremor Stereotypy Agenesis of corpus callosum Narrow mouth Broad-based gait Talipes Poor speech Coloboma Hyperactivity Recurrent respiratory infections Myoclonus Cerebral cortical atrophy Aggressive behavior Acetabular dysplasia Cryptorchidism Wide intermamillary distance Slender finger Growth delay Synophrys Abnormality of the pinna Thin upper lip vermilion Macrotia Myopia Progressive spastic paraplegia Unsteady gait Decreased muscle mass Narrow face Pectus carinatum Infantile muscular hypotonia Pointed chin Thick lower lip vermilion Cognitive impairment Generalized myoclonic seizures Broad nasal tip Everted upper lip vermilion High myopia Facial hypotonia Intellectual disability, profound Genu recurvatum Abnormality of the periventricular white matter Coarse facial features Babinski sign Hyperreflexia Flexion contracture Inability to walk Spastic tetraplegia Spontaneous abortion Tetraplegia Wide nasal bridge Waddling gait High, narrow palate Facial asymmetry Arachnodactyly Abnormality of movement Prominent nasal bridge Recurrent fractures Webbed neck Postural instability Bifid uvula Camptodactyly Tall stature Dental crowding Hyperpigmentation of the skin Sparse scalp hair Fine hair Nasal speech Spastic ataxia Osteoarthritis Mandibular prognathia Intellectual disability, moderate Cone-shaped epiphysis Slow-growing hair Avascular necrosis of the capital femoral epiphysis Single umbilical artery Volvulus Speech apraxia Spondylolisthesis Sparse lateral eyebrow Cavum septum pellucidum Short finger Deep philtrum Narrow palate Diastema Unilateral cryptorchidism Cleft palate Pectus excavatum Osteoporosis Brachycephaly Short metatarsal Scapular winging Kyphoscoliosis Sparse eyebrow Epileptic spasms Concave nail Arthralgia Abnormality of the skeletal system Cone-shaped epiphyses of the proximal phalanges of the hand Swelling of proximal interphalangeal joints Delayed skeletal maturation Alopecia Posteriorly rotated ears Hypogonadism Osteopenia Low-set, posteriorly rotated ears Chin with horizontal crease Microdontia Hyperlordosis Sparse hair Low anterior hairline Dental malocclusion Stroke Hypotrichosis Carious teeth Short metacarpal Brachydactyly Micrognathia Thin eyebrow Focal motor seizures Disproportionate tall stature Long fingers Delayed eruption of teeth Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Leukonychia Pseudohypoparathyroidism Accelerated bone age after puberty Flat capital femoral epiphysis Thin nail Pear-shaped nose Cone-shaped epiphyses of the middle phalanges of the hand Long palm Asymmetry of the ears Abnormally low-pitched voice Coxa magna Scoliosis Pain Memory impairment Long eyelashes Skeletal muscle atrophy Microphallus Agyria Type I lissencephaly Subependymal nodules Febrile seizures Open mouth Protruding tongue Excessive salivation Dysphagia Lissencephaly Hyporeflexia Abnormality of the nervous system Respiratory tract infection Attention deficit hyperactivity disorder Hypermetropia Anal atresia Generalized muscle weakness Esotropia Dandy-Walker malformation Abnormality of neuronal migration Pachygyria Limb ataxia Mild microcephaly Abnormality of the eye Abnormality of eye movement Astigmatism Clumsiness Torticollis Dysphonia Toe walking Limb dystonia Generalized dystonia Laryngeal dystonia Heterotopia Oromandibular dystonia Abnormal posturing Craniofacial dystonia Retrocollis Micropenis Muscular hypotonia of the trunk Postnatal growth retardation Severe global developmental delay Sloping forehead Progressive neurologic deterioration Molar tooth sign on MRI Broad thumb Overweight Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Segmental myoclonic seizures Amblyopia Drooling Long nose Generalized joint laxity Poor motor coordination Spastic dysarthria Shyness Prominent antihelix Feeding difficulties Abnormal cardiac septum morphology Thick eyebrow Downturned corners of mouth Highly arched eyebrow Intestinal malrotation Narrow nasal tip Abnormal social behavior Poor eye contact Broad forehead Poor coordination Happy demeanor Macrocephaly Edema Gait ataxia Gastroesophageal reflux Deeply set eye Autistic behavior Abnormal pyramidal sign Dysmetria Nonprogressive cerebellar ataxia Long face Wide nose Intention tremor Depressed nasal ridge Brisk reflexes Palpebral edema Large forehead Abnormal cortical gyration Positive Romberg sign Ivory epiphyses of the distal phalanges of the hand



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