High palate, and Paraplegia

Diseases related with High palate and Paraplegia

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


Top matches:

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

High match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54


Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

High match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

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Other less relevant matches:

High match SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52


Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental 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). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

High match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18


Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18 Is also known as spg18|intellectual disability, motor dysfunction, and joint contractures|idmdc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18

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 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

High match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

High match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

High match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Top 5 symptoms//phenotypes associated to High palate and Paraplegia

Symptoms // Phenotype % cases
Spastic paraplegia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
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Other less frequent symptoms

Patients with High palate and Paraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum

Common Symptoms - More than 50% cases


Hypertonia

Uncommon Symptoms - Between 30% and 50% cases


Spastic tetraplegia

Common Symptoms - More than 50% cases


Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases


Facial hypotonia

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Short stature Ventriculomegaly Dystonia Strabismus Tetraplegia Neonatal hypotonia Talipes equinovarus Bulbous nose Wide mouth Short philtrum Coarse facial features Muscular hypotonia of the trunk Progressive spastic paraplegia Ataxia Progressive spasticity Micrognathia Gait disturbance Drooling Everted upper lip vermilion Macrotia Abnormality of the periventricular white matter Narrow forehead Dysarthria Febrile seizures Abnormal facial shape Delayed speech and language development

Rare Symptoms - Less than 30% cases


Genu recurvatum Motor delay Epicanthus Apnea Talipes Cerebral atrophy Spastic diplegia Optic atrophy Scoliosis Hypertelorism Muscle weakness Difficulty walking Kyphosis Pes cavus Restlessness Severe global developmental delay Abnormality of eye movement Shuffling gait Muscular hypotonia Cryptorchidism Poor speech Nystagmus Upslanted palpebral fissure Micropenis Thin upper lip vermilion Pectus excavatum Cerebral palsy Mandibular prognathia Lower limb muscle weakness Inability to walk Poor coordination Waddling gait Spastic gait Cerebellar atrophy Pneumonia Pes planus Abnormality of the cerebral white matter Gliosis Excessive salivation Intellectual disability, progressive Macrocephaly Acetabular dysplasia Poor gross motor coordination Depressed nasal bridge Hypogonadism Cataract Mania Progressive spastic paraparesis Cerebellar hypoplasia Slender build Myoclonus Growth delay Bruxism Macroorchidism Juvenile cataract Short neck Tremor Clumsiness Small hand Parkinsonism Abnormality of extrapyramidal motor function Apraxia Abnormal pyramidal sign Psychosis Choreoathetosis EEG abnormality Spastic paraparesis Postnatal microcephaly Chorea Gait ataxia Encephalopathy Intellectual disability, mild Abnormality of the dentition Genu valgum Paraparesis Irritability Intellectual disability, moderate Nevus Interphalangeal joint contracture of finger Hypermetropia Smooth philtrum Falls Short palm Short distal phalanx of finger High, narrow palate Short foot Tapered finger Hypoplasia of the maxilla Decreased testicular size Decreased body weight Camptodactyly of finger Large hands Lower limb hyperreflexia Multiple cafe-au-lait spots Distal lower limb amyotrophy Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Small forehead Prominent nasal bridge Protruding ear Delayed myelination Nevus flammeus Esotropia Ambiguous genitalia Progressive microcephaly Fasciculations Hypergonadotropic hypogonadism Oculomotor apraxia Prominent supraorbital ridges Clitoral hypertrophy Hypoplasia of the brainstem Flat occiput Hypoplasia of the pons Subependymal cysts Thick upper lip vermilion Sex reversal Microphallus Olivopontocerebellar hypoplasia Cognitive impairment Brachydactyly Myopia Clinodactyly Autism Deeply set eye Aggressive behavior Projectile vomiting Long nose Periventricular cysts Elbow flexion contracture Focal-onset seizure Loss of ability to walk Simple febrile seizures Skeletal muscle atrophy Distal muscle weakness Cough Neurological speech impairment Lower limb spasticity Clonus Knee flexion contracture Highly arched eyebrow Delayed gross motor development Language impairment Toe walking Aphasia Ankle clonus Delayed ability to walk Hip contracture Ankle contracture Limb hypertonia Prominent nose Thick vermilion border Upper limb spasticity Periventricular leukomalacia Open mouth Protruding tongue Dysphagia Constipation Telecanthus Urinary incontinence Optic nerve hypoplasia Bowel incontinence Syringomyelia Tip-toe gait Hydrocephalus Optic disc hypoplasia Periventricular white matter hyperdensities Contractures involving the joints of the feet Aspiration Infantile muscular hypotonia Adducted thumb Aspiration pneumonia Pseudobulbar signs Wide nasal ridge Hearing impairment Upper motor neuron dysfunction Pseudobulbar paralysis Decreased activity of the pyruvate dehydrogenase complex Progressive neurologic deterioration Agenesis of corpus callosum Acidosis Unsteady gait Lactic acidosis Hemolytic anemia Metabolic acidosis Coma Increased serum lactate Tetraparesis Broad-based gait Vomiting Trigonocephaly Partial agenesis of the corpus callosum Difficulty running Lipoma Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Increased serum pyruvate Hyperalaninemia Dilatation Respiratory distress Wrist flexion contracture Amblyopia Flexion contracture of toe Difficulty in tongue movements Narrow maxilla Flexion contracture of finger Glabellar reflex Abnormality of jaw muscles Parietal hypometabolism in FDG PET Downslanted palpebral fissures Cerebral cortical atrophy Stereotypy Respiratory insufficiency Narrow face Pointed chin Decreased muscle mass Overweight Generalized joint laxity Spastic dysarthria Shyness Prominent antihelix Failure to thrive Anemia Talipes calcaneovarus



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