High palate, and Dementia

Diseases related with High palate and Dementia

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

Top matches:

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

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

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Other less relevant matches:

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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

Medium 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

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Cognitive impairment Mental deterioration Microcephaly Amenorrhea Dysarthria Ataxia Scoliosis Generalized hypotonia Feeding difficulties Spasticity Hypertelorism Hemolytic anemia Downslanted palpebral fissures Intellectual disability, mild Abnormal facial shape Hearing impairment Psychomotor deterioration Growth delay Intrauterine growth retardation Hypoplasia of the corpus callosum Nystagmus Muscular hypotonia Ptosis Motor delay Short neck Dysmetria Anemia Hypothyroidism Purpura Primary amenorrhea Tetraparesis

Rare Symptoms - Less than 30% cases

Cerebellar atrophy Low-set ears Arthrogryposis multiplex congenita Leukoencephalopathy Aggressive behavior Muscular hypotonia of the trunk Leukodystrophy Acidosis Cerebral atrophy Peripheral demyelination Strabismus Respiratory distress Anxiety Chorea Ventriculomegaly Optic atrophy Tetraplegia Blepharophimosis Abnormality of eye movement Abnormality of the cerebral white matter Neurological speech impairment Abnormal pyramidal sign Developmental regression Thin upper lip vermilion Broad-based gait Pectus excavatum Epicanthus Behavioral abnormality Dilatation Recurrent infections Severe global developmental delay High forehead Spastic tetraparesis Hallucinations Dystonia Abnormality of the hand Long philtrum Lactic acidosis Hypoplasia of the brainstem Poor coordination Spastic tetraplegia Emotional lability Autoimmune thrombocytopenia Metabolic acidosis Psychosis Hyperactivity Retrognathia Narrow palpebral fissure Severe lactic acidosis Short nose Polymicrogyria Respiratory insufficiency Polyneuropathy Sensory neuropathy Bilateral ptosis Rod-cone dystrophy Spastic diplegia Decreased serum testosterone level Hyperreflexia Encephalopathy Infantile muscular hypotonia Sparse hair Gait disturbance Frontal bossing Sensorineural hearing impairment Dysphagia Hydrocephalus Inguinal hernia Delayed puberty Respiratory failure Myopathy Diabetes mellitus Vomiting Peripheral neuropathy Agenesis of corpus callosum Constipation Cerebellar hypoplasia Hyporeflexia Depressivity Postnatal growth retardation Exercise-induced myoglobinuria Exercise-induced muscle cramps Increased muscle fatiguability Talipes equinovarus Neonatal hypotonia Recurrent myoglobinuria Titubation Spastic paraplegia Acute kidney injury Lipoma Difficulty running Rhabdomyolysis Partial agenesis of the corpus callosum Trigonocephaly Progressive neurologic deterioration Reticulocytosis Decreased mean corpuscular volume Pes cavus Increased serum lactate Progressive encephalopathy Coma Unsteady gait Myoglobinuria Areflexia Primitive reflex Osteoporosis Edema Hammertoe Secondary amenorrhea Irritability Gonadal dysgenesis Polyhydramnios Severe sensorineural hearing impairment Increased circulating gonadotropin level Hyperkinesis Visual impairment Corpus callosum atrophy Retinal atrophy Limited extraocular movements Progressive peripheral neuropathy Amelogenesis imperfecta Brain atrophy Wide intermamillary distance Gait ataxia Diffuse leukoencephalopathy Abnormality of the nervous system Ophthalmoplegia Hypertonia Infertility Progressive leukoencephalopathy Frontoparietal polymicrogyria Peripheral axonal neuropathy Sensorimotor neuropathy Pendular nystagmus Loss of speech Episodic fever Opisthotonus Agitation Abnormality of mitochondrial metabolism Severe muscular hypotonia Internuclear ophthalmoplegia Prominent nose Poor fine motor coordination Thin vermilion border Growth hormone deficiency Webbed neck Round face Tapered finger Highly arched eyebrow Hirsutism Dilatation of renal calices Wide nose Thick eyebrow Flat face Facial asymmetry Hypertrichosis Synophrys Dolichocephaly Short philtrum Intellectual disability, moderate Telecanthus Macrotia Gastroesophageal reflux Narrow mouth Brachycephaly Prominent forehead Short palpebral fissure Long eyelashes Delayed skeletal maturation Depressed nasal tip Hyperextensibility at elbow Aplasia/Hypoplasia of the ribs Small forehead Congenital, generalized hypertrichosis Low frustration tolerance Asymmetry of the thorax Anteverted ears Abnormal corpus callosum morphology Broad philtrum Short attention span Abnormality of the elbow Stereotypy Narrow nose Narrow nasal bridge Short middle phalanx of finger Delayed gross motor development Sacral dimple Accelerated skeletal maturation Finger clinodactyly Generalized hirsutism Short toe Rhizomelia Clinodactyly of the 5th finger Clinodactyly Increased serum pyruvate Micropenis Bilateral sensorineural hearing impairment Dehydration Decreased testicular size Dental malocclusion Triangular face Abnormality of movement Hypotrichosis Prominent nasal bridge Protruding ear Camptodactyly Hypogonadism Fine hair Alopecia Babinski sign Abnormality of metabolism/homeostasis Diarrhea Poor gross motor coordination Projectile vomiting Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Abnormality of extrapyramidal motor function Myocardial infarction Wide nasal bridge Anodontia Depressed nasal bridge Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Heart block Sparse scalp hair Insulin-resistant diabetes mellitus Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Choreoathetosis Aphasia Graves disease Hemiplegia Self-injurious behavior Megalencephaly Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Oral-pharyngeal dysphagia Precocious puberty Bulbar signs Encephalitis Dysphonia Sleep apnea Abnormal autonomic nervous system physiology Muscle stiffness Clonus Diplopia Cerebral calcification Hypotension Hypothermia Aqueductal stenosis Sudden cardiac death Atrial septal defect Patent ductus arteriosus Hypospadias Obesity Hernia Thrombocytopenia Absent speech Abnormality of cardiovascular system morphology Immunodeficiency Intellectual disability, severe Ventricular septal defect Hypersomnia Fever Cataract Cleft palate Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Gliosis Sleep disturbance Posteriorly rotated ears Progressive microcephaly Generalized joint laxity Decreased muscle mass Emphysema Lipodystrophy Redundant skin Coarse hair Cutis laxa Lissencephaly Congenital hip dislocation Pachygyria Delayed closure of the anterior fontanelle Intellectual disability, profound High myopia Dandy-Walker malformation Broad nasal tip Smooth philtrum Poor speech Carious teeth Malar flattening Anteverted nares Redundant neck skin Thick hair Nausea and vomiting Macrocephaly Cough Hyperlordosis Facial palsy EEG abnormality Osteopenia Weight loss Hyperhidrosis Kyphosis Tremor Hypertension Excessive wrinkled skin Muscle weakness Abnormal apolipoprotein level Subretinal pigment epithelium hemorrhage Fragmented elastic fibers in the dermis Abnormality of the intrinsic pathway Thick cerebral cortex Abnormal subcutaneous fat tissue distribution Prominent veins on trunk Prominent nasolabial fold Abnormal isoelectric focusing of serum transferrin Abnormal heart morphology Umbilical hernia Hyperbilirubinemia Mood swings Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Platybasia Arteria lusoria Perimembranous ventricular septal defect Interrupted aortic arch Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Aplasia of the thymus Central nervous system degeneration Pierre-Robin sequence Visual loss Exercise intolerance Migraine Muscle cramps Retinal dystrophy Muscular dystrophy Paralysis Myalgia Hepatosplenomegaly Jaundice Renal insufficiency Vascular ring Splenomegaly Fatigue Brachydactyly Pain Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Truncus arteriosus Delusions Conductive hearing impairment Renal agenesis Holoprosencephaly Multicystic kidney dysplasia Hypocalcemia Spina bifida Renal dysplasia Open mouth Low posterior hairline Tetralogy of Fallot Specific learning disability Underdeveloped nasal alae Arnold-Chiari malformation Vesicoureteral reflux Bifid uvula Bulbous nose Anal atresia Pulmonic stenosis Congenital cataract Autoimmunity Abnormality of the pinna Arthritis Bicuspid aortic valve Schizophrenia Meningocele Basal ganglia calcification Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Nasal speech Myopathic facies Inflammation of the large intestine Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Elbow hypertrichosis


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