Abnormal facial shape, and Dementia

Diseases related with Abnormal facial shape and Dementia

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

Low match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low match SANDHOFF DISEASE, INFANTILE FORM


Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Low match ISOLATED COMPLEX III DEFICIENCY


Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low 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 Abnormal facial shape and Dementia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Dementia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Failure to thrive Hepatomegaly Hearing impairment Hyperreflexia Muscular hypotonia Peripheral neuropathy Generalized hypotonia Muscle weakness Neurodegeneration Macrocephaly Spasticity Cardiomegaly Cognitive impairment Vomiting Sensorineural hearing impairment Dysostosis multiplex Dystonia Cerebral cortical atrophy Splenomegaly Dysmetria Feeding difficulties Skeletal muscle atrophy Blindness Motor delay Hyperhidrosis Developmental regression Choreoathetosis Progressive neurologic deterioration Dysphagia Scoliosis Gait disturbance Sleep disturbance Emotional lability Cardiomyopathy Nystagmus

Rare Symptoms - Less than 30% cases


Abnormality of eye movement Hyperactivity Corneal opacity Coarse hair Joint stiffness Abnormality of the cerebral white matter Visual loss Hirsutism Recurrent upper respiratory tract infections Limb ataxia Asymmetric septal hypertrophy Respiratory tract infection Heparan sulfate excretion in urine Leukoencephalopathy Kyphosis Cataract Short stature Cherry red spot of the macula Abnormality of movement Megalencephaly Encephalitis Hemiplegia Progressive cerebellar ataxia Thickened ribs Paralysis Hepatosplenomegaly Dysarthria Gliosis Myoclonus Dense calvaria Ovoid thoracolumbar vertebrae Cerebellar atrophy Synophrys Behavioral abnormality Feeding difficulties in infancy Generalized dystonia Exercise intolerance Dysphonia Narrow face Flexion contracture Delayed myelination Diarrhea Metabolic acidosis Hydrocephalus Intellectual disability, severe Inguinal hernia Prominent forehead Aggressive behavior Coma Osteopenia Cerebral calcification Depressivity Neurological speech impairment Encephalopathy Gait ataxia Acidosis Self-injurious behavior EEG abnormality Hypoglycemia Abnormality of the abdominal wall Hyperkinesis Microvesicular hepatic steatosis Intracranial hemorrhage Hyperechogenic kidneys Spastic diplegia Proximal tubulopathy Cerebral palsy Malnutrition Opisthotonus Cholangitis Bulbar palsy Malignant hyperthermia Stroke Hyperphosphaturia Tubulointerstitial nephritis Ketonuria Myoglobinuria Food intolerance Headache Joint dislocation Persistent lactic acidosis Inability to walk Dilatation Dyskinesia Myopathy Edema Fever Postterm pregnancy Decreased mitochondrial complex III activity in liver tissue Abnormal cerebellum morphology Large fontanelles Rigidity Migraine Aciduria Irritability Neuronal loss in central nervous system Mitochondrial encephalopathy Dehydration Vertigo Abnormality of extrapyramidal motor function Histiocytoid cardiomyopathy Large face Cerebral ischemia Precocious puberty Tetraplegia Sudden cardiac death Chorea Hypotension Amenorrhea Peripheral demyelination Diplopia Clonus Leukodystrophy Muscle stiffness Hyperpigmented nevi Abnormal autonomic nervous system physiology Sleep apnea Oral-pharyngeal dysphagia Cough Recurrent singultus Progressive macrocephaly Dysphasia Pseudobulbar signs Bowel incontinence Progressive spasticity Muscle fibrillation Atrophy/Degeneration affecting the brainstem Drowsiness Increased CSF protein Poor coordination Hypothermia Bulbar signs Aqueductal stenosis Nausea and vomiting Abnormal pyramidal sign Abnormality of the retinal vasculature High palate Dilation of lateral ventricles Decreased plasma carnitine Fasting hypoglycemia Acute encephalopathy Infantile encephalopathy Retinal hemorrhage Glutaric aciduria Glutaric acidemia Macrocephaly at birth Symmetrical progressive peripheral demyelination Ketonemia Subdural hemorrhage Growth delay Ptosis Hypertension Microcoria Hypersomnia Frontal bossing Short neck Respiratory insufficiency Glycosuria Hyporeflexia Constipation Agenesis of corpus callosum Diabetes mellitus Respiratory failure Weight loss Hypothyroidism Facial palsy Hyperlordosis Rhabdomyolysis Thoracic kyphosis Abnormality of the coagulation cascade Visceromegaly Pointed chin Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Delayed speech and language development Pneumonia Split hand Growth abnormality Thickened calvaria Restlessness Central nervous system degeneration Prominent nose Retinal degeneration Protuberant abdomen Babinski sign Recurrent respiratory infections Macroglossia Urinary incontinence Psychosis Chronic diarrhea Hypohidrosis Fasciculations Impotence Orthostatic hypotension Dandy-Walker malformation Thick vermilion border Supranuclear gaze palsy Upper limb postural tremor Respiratory distress Kyphoscoliosis Open mouth Involuntary movements Torticollis Dysdiadochokinesis Toe walking Limb dystonia Blepharospasm Laryngeal dystonia Torsion dystonia Eunuchoid habitus Lingual dystonia Long face Sunken cheeks Movement abnormality of the tongue Strabismus Cryptorchidism Ventriculomegaly Cerebellar hypoplasia Mandibular prognathia High forehead Difficulty walking Deeply set eye Protruding ear Wide mouth Episodic abdominal pain Motor deterioration Nephritis Hepatic failure Epicanthus Hypertonia Cerebral atrophy Rod-cone dystrophy Elevated hepatic transaminase Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Retinopathy Small for gestational age Congenital cataract Lactic acidosis Sensory neuropathy Urinary excretion of sialylated oligosaccharides Increased serum lactate Pigmentary retinopathy Tetraparesis Hypertrichosis Cholestasis Hallucinations Decreased liver function Aminoaciduria Severe muscular hypotonia Spastic tetraparesis Ragged-red muscle fibers Brittle hair Microcephaly Increased urinary O-linked sialopeptides Upper motor neuron dysfunction Ascites Progressive psychomotor deterioration Abnormality of glycosphingolipid metabolism Impaired thermal sensitivity Visual impairment Hernia Dyspnea Skeletal dysplasia Proteinuria Abnormality of the nervous system Mental deterioration Pectus carinatum Falls Waddling gait Bone-marrow foam cells Progressive visual loss Hydrops fetalis Laryngomalacia Slurred speech Hyperactive deep tendon reflexes Epiphyseal stippling Syringomyelia Hand tremor Barrel-shaped chest Foam cells Vacuolated lymphocytes Facial 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 Rod-cone dystrophy and Dysphagia, related diseases and genetic alterations Motor delay and Increased body weight, related diseases and genetic alterations Brachydactyly and Glaucoma, related diseases and genetic alterations Depressed nasal bridge and Dry skin, related diseases and genetic alterations Immunodeficiency and Premature birth, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more