Epicanthus, and Cerebellar atrophy

Diseases related with Epicanthus and Cerebellar atrophy

In the following list you will find some of the most common rare diseases related to Epicanthus and Cerebellar atrophy that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Other less relevant matches:

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Cerebellar atrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Cerebellar atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Cerebral atrophy Low-set ears Hyperreflexia Absent speech High palate Inability to walk Spasticity Cerebellar hypoplasia Hearing impairment Edema Ventriculomegaly Visual impairment Hypertonia Progressive microcephaly Tapered finger Ataxia Hypotelorism Nystagmus Strabismus Delayed speech and language development Delayed ability to walk Long philtrum Feeding difficulties

Rare Symptoms - Less than 30% cases

Brachycephaly Status epilepticus Respiratory failure Clinodactyly Recurrent respiratory infections Hyporeflexia Narrow forehead Fever Gait ataxia Depressed nasal bridge Respiratory insufficiency Flexion contracture Delayed myelination Broad face Agitation Oral-pharyngeal dysphagia Hypsarrhythmia Sloping forehead Pallor Poor head control Hypertelorism Abnormal facial shape Downslanted palpebral fissures Myoclonus Talipes equinovarus Scoliosis Retrognathia Autistic behavior Joint hypermobility Everted lower lip vermilion Sensorineural hearing impairment Muscular hypotonia of the trunk Encephalopathy Motor delay Full cheeks Optic atrophy Neonatal hypotonia Kyphoscoliosis Hypoplasia of the brainstem Hypertrichosis Dental crowding Relative macrocephaly Coarse facial features Prominent forehead Apraxia Broad philtrum Macrocephaly Babinski sign Wide nasal base Neoplasm Short palpebral fissure Macroglossia Neuronal loss in central nervous system Long palpebral fissure Thoracic scoliosis Cerebral cortical atrophy Progressive encephalopathy Delayed eruption of teeth Hypoplasia of the pons Anteverted nares Brachydactyly Talipes Abnormality of the cerebral white matter Camptodactyly Pontocerebellar atrophy Hepatosplenomegaly Thick vermilion border Lymphadenopathy Anemia Myeloid leukemia Bone marrow hypocellularity Leukopenia Intracranial hemorrhage Myelodysplasia Chronic otitis media Leukocytosis Prolonged bleeding time Cellulitis Acute myeloid leukemia Pancytopenia Acute leukemia Hypercoagulability Verrucae Abnormality of the optic nerve Myeloproliferative disorder Granulocytopenia Erysipelas Macronodular cirrhosis Lymphedema Webbed neck Hepatomegaly Scarring Fatigue Splenomegaly Syndactyly Immunodeficiency Recurrent infections Thrombocytopenia Visual loss Weight loss Leukemia Migraine Neurological speech impairment Nausea and vomiting Vertigo Decreased body weight Cirrhosis Bruising susceptibility Hemolytic anemia Hematuria Elbow flexion contracture Tented upper lip vermilion Underdeveloped nasal alae Cerebral visual impairment Wide nasal bridge Pneumonia Posteriorly rotated ears Low-set, posteriorly rotated ears Neurodegeneration Focal-onset seizure CNS hypomyelination Central hypotonia Cortical gyral simplification Cerebellar vermis atrophy Rhabdomyolysis Dystonia Pes planus Aggressive behavior Synophrys Infantile encephalopathy Severe muscular hypotonia Involuntary movements Joint laxity EEG abnormality Postnatal microcephaly Stereotypy Midface retrusion Autism Thin upper lip vermilion Blue sclerae Pachygyria Overfolded helix Cupped ear Short nose Polymicrogyria Brain atrophy Intellectual disability, profound Open mouth Chorea Bruxism High, narrow palate Fasciculations Short neck Respiratory tract infection Arthrogryposis multiplex congenita Abnormality of eye movement Generalized muscle weakness Decreased fetal movement Adducted thumb Failure to thrive Weak cry Fractures of the long bones Short stature Proptosis Macrotia Downturned corners of mouth Dyskinesia Intrauterine growth retardation Truncal titubation Low frustration tolerance Abnormal cerebellum morphology Tremor Clinodactyly of the 5th finger Rigidity Apnea Dysmetria Thin vermilion border Flat face Cyanosis Titubation Broad-based gait Clonus Horizontal nystagmus Finger clinodactyly Optic nerve hypoplasia Focal impaired awareness seizure Ankle clonus Abnormal neutrophil count


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Lymphedema, related diseases and genetic alterations Edema and Left ventricular hypertrophy, related diseases and genetic alterations Epicanthus and Irritability, related diseases and genetic alterations