Abnormal facial shape, and Chorea

Diseases related with Abnormal facial shape and Chorea

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


Top matches:

Low match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Low match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


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

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Low match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD


NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

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

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Chorea

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Dystonia

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Microcephaly Choreoathetosis Aggressive behavior Gait ataxia Cerebellar atrophy Motor delay Inability to walk Scoliosis Ataxia Ventriculomegaly Joint hypermobility Delayed myelination High palate Encephalopathy Cognitive impairment Constipation Hypoplasia of the corpus callosum Muscular hypotonia Hypertonia Intellectual disability, severe Strabismus Muscular hypotonia of the trunk Hyperreflexia Developmental regression Cerebral atrophy Dysarthria Epileptic encephalopathy Ptosis

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Febrile seizures Cerebral cortical atrophy Epicanthus Depressed nasal bridge Status epilepticus Cryptorchidism Flexion contracture Deeply set eye Narrow face Long face Mandibular prognathia Self-injurious behavior Autistic behavior Intellectual disability, moderate Hyperactivity Coarse facial features Failure to thrive Spastic tetraparesis Tetraparesis Hydrocephalus Involuntary movements Exotropia Irritability Micrognathia Bruxism Cerebral visual impairment Wide nasal bridge Dysmetria Kyphoscoliosis Nystagmus Clumsiness Short stature Low-set ears Visual impairment Diplopia Tapered finger Generalized-onset seizure Wide mouth Dementia Prominent forehead Facial palsy High forehead Difficulty walking Protruding ear Speech apraxia Macrocephaly Dysphagia Thick vermilion border Neurodegeneration Prominent nose Dandy-Walker malformation Cerebral calcification Inguinal hernia Abnormality of creatine metabolism Sensorineural hearing impairment Focal impaired awareness seizure Dyskinesia Tetraplegia Hypotelorism Spastic tetraplegia Hypsarrhythmia Progressive microcephaly Poor hand-eye coordination Pointed chin Global brain atrophy Disproportionate tall stature Infantile spasms Atonic seizures Profound global developmental delay Oculogyric crisis Inappropriate crying Duodenal ulcer Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Urethral stenosis Aganglionic megacolon Tall stature Stereotypy External ophthalmoplegia Cachexia Redundant skin Language impairment Parkinsonism Impaired social interactions Ileus Mask-like facies Athetosis Myopathic facies Self-mutilation Open mouth Joint hyperflexibility Chronic constipation Malar flattening High-frequency hearing impairment Abnormality of the basal ganglia Gait disturbance Abnormality of movement Vomiting Behavioral abnormality Midface retrusion Ophthalmoplegia Abnormality of metabolism/homeostasis Pes cavus Neonatal hypotonia Feeding difficulties in infancy Attention deficit hyperactivity disorder Broad forehead Hypermetropia Thick eyebrow Loss of speech Abnormality of eye movement Calf muscle hypertrophy Optic atrophy Tremor Visual loss Poor coordination Gastroesophageal reflux Blurred vision Myotonia Hand clenching Lethargy Gliosis Increased serum lactate Muscle stiffness Increased CSF lactate Hearing impairment Pes planus Myokymia Tip-toe gait Everted lower lip vermilion Clinodactyly Cerebellar vermis atrophy Dilated fourth ventricle Narrow forehead Progressive cerebellar ataxia Small hand Toe syndactyly Syndactyly Craniofacial disproportion Macrotia Thin upper lip vermilion Generalized tonic-clonic seizures Smooth philtrum Focal-onset seizure Hemiparesis Limb hypertonia Synophrys Specific learning disability Abnormal pyramidal sign Blindness Bicornuate uterus Hypoplastic left atrium Hyperhidrosis Headache Pain Respiratory distress Myoclonus Short chin Corpus callosum atrophy Autism EEG abnormality Incoordination Esotropia Abnormality of the eye Generalized myoclonic seizures Anophthalmia Short palpebral fissure Delayed ability to walk Hernia Muscle cramps Low frustration tolerance Cleft palate Postural instability Ventricular septal defect Nausea Microphthalmia Brachycephaly Vertigo Retrognathia Sparse hair Severe global developmental delay Pulmonary hypoplasia Wide nose Broad nasal tip Congenital diaphragmatic hernia Underfolded superior helices



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