Abnormal facial shape, and Alzheimer disease

Diseases related with Abnormal facial shape and Alzheimer disease

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


Top matches:

Medium match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Medium match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9


ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9 Is also known as alzheimer disease 9, late-onset

Related symptoms:

  • Behavioral abnormality
  • Depressivity
  • Cerebral cortical atrophy
  • Parkinsonism
  • Memory impairment


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

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Other less relevant matches:

Low match ALZHEIMER DISEASE 2; AD2


A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]

ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4|alzheimer disease 2, late-onset

Related symptoms:

  • Hypertension
  • Dementia
  • Diabetes mellitus
  • Stroke
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 2; AD2

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Low match X-LINKED PARKINSONISM-SPASTICITY SYNDROME


X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Low match PARKINSON-DEMENTIA SYNDROME


Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Alzheimer disease

Symptoms // Phenotype % cases
Neurofibrillary tangles Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Rigidity Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Neuronal loss in central nervous system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tremor Senile plaques Mental deterioration Cerebral cortical atrophy Apraxia Gait disturbance Bradykinesia Postural instability Seizures Cognitive impairment Ataxia

Rare Symptoms - Less than 30% cases


Intellectual disability Resting tremor Lewy bodies Aphasia Behavioral abnormality Muscular dystrophy Abnormal pyramidal sign Memory impairment Paraparesis Spastic paraparesis Disinhibition Hypertension Gliosis Frontotemporal dementia Kyphoscoliosis Developmental regression Hyperreflexia Generalized hypotonia Spasticity Abnormality of the dentition Muscular hypotonia Strabismus Ventriculomegaly Hearing impairment Clinodactyly of the 5th finger Global developmental delay Short stature Abnormality of blood and blood-forming tissues Impaired pain sensation Abnormality of immune system physiology Language impairment Stereotypy Abnormality of extrapyramidal motor function Delusions Prematurely aged appearance Agnosia Hippocampal atrophy Transposition of the great arteries Diabetes mellitus Neurodegeneration Stroke Myocardial infarction Irritability Long-tract signs Hypoplastic iliac wing Acute megakaryocytic leukemia Depressivity Abnormality of the lymphatic system Acute monocytic leukemia Hypoxemia Double outlet right ventricle Pulmonary edema Thickened nuchal skin fold Complete atrioventricular canal defect Short middle phalanx of the 5th finger Acute lymphoblastic leukemia Thrombocytosis Myeloproliferative disorder Duodenal stenosis Left-to-right shunt Protruding tongue Shallow acetabular fossae Polycythemia Abnormality of the fontanelles or cranial sutures Neutrophilia Atlantoaxial instability Crackles Transient myeloproliferative syndrome Brushfield spots Round ear Congenital hypothyroidism Apathy Distal muscle weakness Personality changes Dyskinesia Delayed speech and language development Intention tremor Abnormal autonomic nervous system physiology Postural tremor Akinesia Hand tremor Shuffling gait Hyposmia Parkinsonism with favorable response to dopaminergic medication Substantia nigra gliosis Motor aphasia Babinski sign Mask-like facies Sensorimotor neuropathy Ankle clonus Hyperactive deep tendon reflexes Diffuse cerebral atrophy Dilation of lateral ventricles Cogwheel rigidity Scissor gait Dilated third ventricle Dysarthria Abnormality of eye movement Falls Ophthalmoparesis Morphological abnormality of the pyramidal tract Foot dorsiflexor weakness Sensory impairment Polyphagia Distal amyotrophy Echolalia Primitive reflex Perseveration Inappropriate laughter Hyperorality Semantic dementia Emotional blunting Muscle weakness Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Atrioventricular canal defect EMG: myopathic abnormalities Distal sensory impairment Limb-girdle muscular dystrophy Rimmed vacuoles Myositis Limb-girdle muscle weakness Muscle fiber atrophy Morphological abnormality of the central nervous system Deposits immunoreactive to beta-amyloid protein Peripheral neuropathy Cerebral atrophy Areflexia Hyporeflexia Unsteady gait Peripheral axonal neuropathy Broad palm Macroglossia Decreased fertility Truncal ataxia Confusion Wide nose Inability to walk Thick vermilion border Short foot Underdeveloped nasal alae Generalized-onset seizure Intellectual disability, profound Fine hair Progressive neurologic deterioration Postnatal microcephaly Nephrolithiasis Abnormality of the fingernails Attention deficit hyperactivity disorder Accelerated skeletal maturation Cerebral palsy Abnormality of the metacarpal bones Cachexia Aplasia/Hypoplasia of the cerebellum Prolonged QT interval Thoracic scoliosis Overweight Loss of speech Progressive encephalopathy Hyperventilation Bruxism Alkalosis Abnormality of movement Camptodactyly of finger Motor deterioration Encephalopathy Microcephaly Scoliosis Growth delay Cryptorchidism Skeletal muscle atrophy Atrial septal defect Intellectual disability, severe Dystonia Intellectual disability, mild Kyphosis Long philtrum Hypospadias Constipation Wide mouth Hyperactivity Gait ataxia Autism Gastroesophageal reflux Coarse facial features EEG abnormality Anxiety Abnormality of the nervous system Aggressive behavior Muscular hypotonia of the trunk Apnea Autistic behavior Paralysis Developmental stagnation Astrocytosis Hydroureter Downturned corners of mouth Hypothyroidism Umbilical hernia Conductive hearing impairment Hydronephrosis Joint laxity Microtia Leukemia Hypotrichosis Anal atresia Flat face Short palm Postaxial polydactyly Single transverse palmar crease Polydactyly Neutropenia Microdontia Type II diabetes mellitus Thick lower lip vermilion Depressed nasal ridge Open mouth Aganglionic megacolon Bilateral single transverse palmar creases Narrow palate Sandal gap Renal hypoplasia/aplasia Breast carcinoma Cholelithiasis Narrow mouth Brachycephaly Abnormal T-wave Anemia Esodeviation Prolonged QTc interval Abnormal muscle tone Short distal phalanx of the thumb Respiratory alkalosis Abnormality of the antitragus Intermittent hyperventilation Nonprogressive encephalopathy Hypocapnia Gait apraxia Neoplasm Cataract Depressed nasal bridge Upslanted palpebral fissure Epicanthus Brachydactyly Myopia Short neck Hydrocephalus Edema Short nose Malar flattening Recurrent infections Abnormality of cardiovascular system morphology Thrombocytopenia Obesity Abnormal heart morphology Inappropriate behavior



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