High palate, and Mental deterioration

Diseases related with High palate and Mental deterioration

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

Top 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

Other less relevant matches:

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

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

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

Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 Is also known as myasthenic syndrome, congenital, acetazolamide-responsive

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to High palate and Mental deterioration

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
Delayed speech and language development Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Motor delay Hypertelorism Short stature Generalized hypotonia Psychomotor deterioration Tetraparesis Microcephaly Spasticity Ptosis Feeding difficulties Intrauterine growth retardation Dysarthria Intellectual disability, mild Infantile muscular hypotonia Myopathy Ataxia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Cerebral atrophy Sensory neuropathy Respiratory distress Ventriculomegaly Optic atrophy Primary amenorrhea Polyneuropathy Amenorrhea Growth delay Bilateral ptosis Spastic diplegia Decreased serum testosterone level Hypoplasia of the corpus callosum Severe lactic acidosis Acidosis Broad-based gait Muscle weakness Behavioral abnormality High forehead Gait disturbance Decreased muscle mass Sparse hair Postnatal growth retardation Long philtrum Low-set ears Strabismus Severe global developmental delay Muscular hypotonia of the trunk Thin upper lip vermilion Pectus excavatum Dilatation Dystonia Epicanthus Ophthalmoplegia Spastic tetraplegia Metabolic acidosis Polymicrogyria Lactic acidosis Arthrogryposis multiplex congenita Delayed puberty Short nose Rod-cone dystrophy Paralysis Abnormal facial shape Sensorineural hearing impairment Nystagmus Scoliosis Anemia Hearing impairment Spastic tetraparesis Purpura Cerebellar hypoplasia Pes cavus Encephalopathy Hemolytic anemia Peripheral neuropathy Anodontia Decreased serum estradiol Decreased serum insulin-like growth factor 1 Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Streak ovary Heart block Insulin-resistant diabetes mellitus Abnormality of the nervous system Progressive extrapyramidal movement disorder Constipation Macrotia Gastroesophageal reflux Narrow mouth Brachycephaly Hyperactivity Prominent forehead Clinodactyly of the 5th finger Hypoplasia of the fallopian tube Delayed skeletal maturation Clinodactyly Dysphagia Wide nasal bridge Depressed nasal bridge Autoimmune thrombocytopenia Progressive alopecia Muscular hypotonia Premature ovarian insufficiency Hypoplasia of the uterus Brachydactyly Triangular face Abnormality of movement Hypotrichosis Prominent nasal bridge Protruding ear Camptodactyly Hypothyroidism Dental malocclusion Micropenis Diabetes mellitus Hypogonadism Alopecia Babinski sign Abnormality of metabolism/homeostasis Prominent nose Decreased testicular size Aplasia/Hypoplasia of the eyebrow Hallucinations Flat occiput Sparse eyebrow Aggressive behavior Hyperlipidemia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Choreoathetosis Dehydration Sparse scalp hair Myocardial infarction Fine hair Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Anxiety Dolichocephaly Telecanthus Generalized muscle weakness Broad philtrum Abnormal corpus callosum morphology Anteverted ears Asymmetry of the thorax Low frustration tolerance Congenital, generalized hypertrichosis Small forehead Aplasia/Hypoplasia of the ribs Hyperextensibility at elbow Dilatation of renal calices Elbow hypertrichosis Pain Apnea Hyperlordosis Lumbar hyperlordosis Depressed nasal tip Aciduria Organic aciduria Progressive proximal muscle weakness Long fingers Gowers sign Language impairment Failure to thrive in infancy Autistic behavior External ophthalmoplegia Proximal muscle weakness Autism Elevated serum creatine phosphokinase Intellectual disability, severe Fatigable weakness Easy fatigability Short attention span Abnormality of the elbow Intellectual disability, moderate Webbed neck Blepharophimosis Short philtrum Neurological speech impairment Frontal bossing Synophrys Facial asymmetry Thin vermilion border Flat face Thick eyebrow Wide nose Hirsutism Highly arched eyebrow Tapered finger Round face Growth hormone deficiency Narrow nose Narrow palpebral fissure Narrow nasal bridge Short middle phalanx of finger Abnormality of the hand Delayed gross motor development Sacral dimple Accelerated skeletal maturation Finger clinodactyly Short palpebral fissure Generalized hirsutism Short toe Rhizomelia Stereotypy Long eyelashes Hypertrichosis Diarrhea Abnormal subcutaneous fat tissue distribution Fatigue Severe muscular hypotonia Progressive encephalopathy Developmental regression Irritability Abnormal pyramidal sign Reticulocytosis Abnormality of the cerebral white matter Acute kidney injury Rhabdomyolysis Aphasia Tetraplegia Brain atrophy Wide intermamillary distance Emotional lability Leukodystrophy Leukoencephalopathy Polyhydramnios Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Agitation Opisthotonus Episodic fever Loss of speech Pendular nystagmus Hemiplegia Primitive reflex Diffuse leukoencephalopathy Frontoparietal polymicrogyria Progressive leukoencephalopathy Hyperbilirubinemia Respiratory insufficiency Retrognathia Myoglobinuria Hypertonia Increased circulating gonadotropin level Osteoporosis Infertility Dysmetria Peripheral axonal neuropathy Hyporeflexia Areflexia Sensorimotor neuropathy Hyperkinesis Cerebellar atrophy Hammertoe Short neck Secondary amenorrhea Gonadal dysgenesis Severe sensorineural hearing impairment Retinal atrophy Respiratory failure Amelogenesis imperfecta Talipes equinovarus Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Visual impairment Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Edema Decreased mean corpuscular volume Recurrent infections Vomiting Exercise intolerance Hyperreflexia Emphysema Smooth philtrum Broad nasal tip Dandy-Walker malformation High myopia Intellectual disability, profound Pachygyria Progressive microcephaly Congenital hip dislocation Lissencephaly Cutis laxa Renal insufficiency Coarse hair Redundant skin Lipodystrophy Splenomegaly Carious teeth Generalized joint laxity Redundant neck skin Delayed closure of the anterior fontanelle Thick hair Excessive wrinkled skin Abnormal isoelectric focusing of serum transferrin Prominent nasolabial fold Prominent veins on trunk Gait ataxia Thick cerebral cortex Abnormality of the intrinsic pathway Fragmented elastic fibers in the dermis Subretinal pigment epithelium hemorrhage Abnormal apolipoprotein level Poor speech Visual loss Migraine Lipoma Muscle cramps Agenesis of corpus callosum Neonatal hypotonia Retinal dystrophy Spastic paraplegia Abnormality of eye movement Unsteady gait Coma Increased serum lactate Progressive neurologic deterioration Muscular dystrophy Trigonocephaly Partial agenesis of the corpus callosum Difficulty running Poor coordination Dementia Poor gross motor coordination Inguinal hernia Malar flattening Jaundice Anteverted nares Hepatosplenomegaly Myalgia Projectile vomiting Corpus callosum atrophy Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Poor fine motor coordination Abnormality of creatine metabolism


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