High palate, and Dysmetria

Diseases related with High palate and Dysmetria

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


Top matches:

High match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

High match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

High match GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

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Other less relevant matches:

High match ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY


Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY Is also known as adult-onset cpeo with mitochondrial myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL MYOPATHY

High match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

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 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

High match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

High match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% 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
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia

Common Symptoms - More than 50% cases


Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Seizures Abnormal facial shape Motor delay Dysarthria Intellectual disability, mild Cerebellar atrophy Feeding difficulties Tremor Cognitive impairment Spasticity Clinodactyly Muscle weakness Amenorrhea Hyporeflexia Short neck Macrocephaly Ptosis Micrognathia Visual impairment Hypertelorism Growth delay

Rare Symptoms - Less than 30% cases


Abnormal pyramidal sign Delayed ability to walk Strabismus Hearing impairment Pallor Long face Hypoplasia of the corpus callosum Myopathic facies Failure to thrive Oral-pharyngeal dysphagia Depressivity Chorea Clonus Microcephaly Constipation Diplopia Narrow forehead Abnormality of the cerebral white matter Polymicrogyria Primary amenorrhea Broad-based gait Low-set ears Sensory neuropathy Pes cavus Wide nasal bridge Peripheral neuropathy Infantile muscular hypotonia Talipes equinovarus Respiratory insufficiency Areflexia Inability to walk Difficulty walking Hyperreflexia Poor coordination Small hand Distal muscle weakness Intention tremor Titubation Arachnodactyly Unsteady gait Peripheral axonal neuropathy Long philtrum Hyperkeratosis Anxiety Retinopathy Kyphoscoliosis Myalgia Thick vermilion border Falls Distal amyotrophy Distal sensory impairment Sensory impairment Pigmentary retinopathy Frequent falls Limb ataxia Truncal ataxia Schizophrenia Dysdiadochokinesis Gowers sign Increased variability in muscle fiber diameter Multiple lipomas Mandibular prognathia Abnormality of the cerebral cortex Delayed skeletal maturation Broad philtrum Highly arched eyebrow Hypermetropia Wide intermamillary distance Hypsarrhythmia Short palpebral fissure Heterotopia Gynecomastia Low anterior hairline Plagiocephaly Abnormality of neuronal migration Hallux valgus Colpocephaly Hypospadias Talipes calcaneovalgus Periventricular gray matter heterotopia Phimosis Prominent forehead Aplasia/Hypoplasia of the ribs Dolichocephaly High, narrow palate Myopathy Pectus excavatum Elevated serum creatine phosphokinase Low-set, posteriorly rotated ears Joint laxity Prominent metopic ridge Facial palsy Hyperthyroidism Progressive spasticity Cerebral calcification Leukodystrophy Muscle stiffness Abnormal autonomic nervous system physiology Leukoencephalopathy Sleep apnea Dysphonia Encephalitis Precocious puberty Self-injurious behavior Emotional lability Dysphasia Bowel incontinence Muscle fibrillation Hypotension Atrophy/Degeneration affecting the brainstem Drowsiness Increased CSF protein Megalencephaly Hypothermia Bulbar signs Aqueductal stenosis Hypersomnia Large face Pseudobulbar signs Progressive macrocephaly Recurrent singultus Hyperpigmented nevi Microcoria Peripheral demyelination Gliosis Mitochondrial myopathy Dementia Prolactin excess Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Muscular hypotonia Hypertension Gait disturbance Frontal bossing Dysphagia Hydrocephalus Vomiting Kyphosis Agenesis of corpus callosum Hyperhidrosis Sudden cardiac death Diabetes mellitus Respiratory failure Weight loss Hypothyroidism Osteopenia EEG abnormality Developmental regression Hyperlordosis Cough Neurological speech impairment Nausea and vomiting Abnormality of eye movement Sleep disturbance Tetraplegia Obesity Cerebral cortical atrophy Segmental myoclonic seizures Mental deterioration Cerebral atrophy Proteinuria Stage 5 chronic kidney disease Esotropia Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Minimal change glomerulonephritis Sensorineural hearing impairment Rod-cone dystrophy Osteoporosis Abnormality of the nervous system Ophthalmoplegia Impaired tactile sensation Delayed puberty Infertility Polyneuropathy Sensorimotor neuropathy Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Secondary amenorrhea Gonadal dysgenesis Severe sensorineural hearing impairment Increased circulating gonadotropin level Intrauterine growth retardation Sensory ataxia Amelogenesis imperfecta Abnormality of the skeletal system Syndactyly Encephalopathy Toe syndactyly Tapered finger Progressive cerebellar ataxia Epileptic encephalopathy Generalized-onset seizure Cerebral visual impairment Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Flexion contracture Pes planus Impaired proprioception Thin upper lip vermilion Camptodactyly Arthrogryposis multiplex congenita Abnormality of the foot Hip dysplasia Joint contracture of the hand Sandal gap Poor head control Impaired vibratory sensation Sensory axonal neuropathy Long nose Narrow nasal bridge Distal arthrogryposis Retinal atrophy Decreased serum testosterone level Hypoplastic hippocampus Pointed chin Neonatal hypotonia Aggressive behavior Protruding ear Autistic behavior Broad forehead Bulbous nose Wide nose Broad nasal tip Generalized myoclonic seizures Memory impairment Thick lower lip vermilion Depressed nasal ridge Brisk reflexes Gastroesophageal reflux Palpebral edema Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Deeply set eye Narrow mouth Progressive peripheral neuropathy Flat face Limited extraocular movements Internuclear ophthalmoplegia Epicanthus Fever Hypertonia Absent speech Clinodactyly of the 5th finger Brachycephaly Rigidity Muscular hypotonia of the trunk Apnea Thin vermilion border Abnormal cerebellum morphology Hyperactivity Cyanosis Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Optic nerve hypoplasia Focal impaired awareness seizure Agitation Ankle clonus Broad face Truncal titubation Downslanted palpebral fissures Anteverted nares Edema Diffuse demyelination of the cerebral white matter



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Cyanosis, related diseases and genetic alterations Macrocephaly and Hypopigmentation of the skin, related diseases and genetic alterations Macrocephaly and Dysphagia, related diseases and genetic alterations Edema and Hypoplasia of the maxilla, related diseases and genetic alterations Peripheral neuropathy and Hypoglycemia, related diseases and genetic alterations Generalized hypotonia and Diarrhea, related diseases and genetic alterations Microcephaly and Decreased testicular size, related diseases and genetic alterations

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