Abnormal facial shape, and Tetraparesis

Diseases related with Abnormal facial shape and Tetraparesis

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


Top matches:

Medium match FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Medium match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

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Other less relevant matches:

Medium match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Medium match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Medium match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Medium 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

Medium match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Medium match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Medium 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

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

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

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Delayed speech and language development Hyperreflexia Cerebellar atrophy Cerebral atrophy Severe global developmental delay Hypoplasia of the corpus callosum Absent speech Dystonia Coarse facial features Growth delay Hypsarrhythmia Encephalopathy Long philtrum Hypertelorism Myoclonus EEG abnormality Abnormal pyramidal sign Neuronal loss in central nervous system Feeding difficulties Gait ataxia Hyperactivity Nystagmus Intellectual disability, severe Abnormality of the skeletal system Inability to walk

Rare Symptoms - Less than 30% cases


Deeply set eye Intellectual disability, moderate Epileptic encephalopathy Rigidity CNS hypomyelination Micrognathia Wide nasal bridge Muscular hypotonia Aggressive behavior Gliosis Polymicrogyria Brain atrophy Muscular hypotonia of the trunk Visual impairment Failure to thrive Progressive microcephaly Spastic tetraplegia Flexion contracture Short nose Ventriculomegaly Global brain atrophy Febrile seizures Hypertonia Chorea Macrocephaly Cryptorchidism Status epilepticus Ataxia Frontal bossing Hydrocephalus Progressive psychomotor deterioration Myopathy Generalized lipodystrophy Oculogyric crisis Respiratory insufficiency Tremor Insulin resistance Hepatomegaly Caudate atrophy Hypertension Poor motor coordination Hypoplastic left atrium Reduced intraabdominal adipose tissue Bicornuate uterus Cognitive impairment Respiratory failure Generalized hirsutism Hepatic steatosis Acanthosis nigricans Hypertriglyceridemia Lipodystrophy Hyperinsulinemia Feeding difficulties in infancy Sleep disturbance Cirrhosis Progressive encephalopathy Brisk reflexes Reduced subcutaneous adipose tissue Respiratory tract infection Developmental regression Limb dystonia Mental deterioration Loss of speech Hypotelorism Poor head control Long face Constipation Decreased urinary urate Disproportionate tall stature Self-injurious behavior Focal impaired awareness seizure Absent urinary urothione Aldehyde oxidase deficiency Scoliosis Pain High palate Blindness Autism Atonic seizures Abnormality of the eye Autistic behavior Abnormality of eye movement Abnormality of movement Cerebral visual impairment Joint hypermobility Thick eyebrow Dyskinesia Involuntary movements Tetraplegia Infantile spasms Bruxism Thick vermilion border Abnormal muscle tone Full cheeks Peripheral demyelination Generalized-onset seizure Hemiplegia Ectopia lentis Opisthotonus Axonal loss Lens luxation Myoclonic spasms Hypouricemia Increased urinary taurine Increased urinary thiosulfate Molybdenum cofactor deficiency Increased urinary hypoxanthine Short chin Xanthinuria Profound global developmental delay Sulfite oxidase deficiency Xanthine nephrolithiasis Decreased urinary sulfate Increased urinary sulfite Reduced xanthine dehydrogenase activity Anophthalmia Spastic paraparesis Short palpebral fissure Poor eye contact Hyperostosis Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Optic atrophy Coloboma Hypermetropia Iris coloboma Delayed ability to walk Small nail Intrauterine growth retardation Cerebellar hypoplasia Sloping forehead Decreased fetal movement Thick lower lip vermilion Hemiparesis Heterotopia Pachygyria Lissencephaly Increased intracranial pressure Overgrowth Cortical gyral simplification Vacuolated lymphocytes Dysarthria Abnormality of metabolism/homeostasis Generalized tonic-clonic seizures Progressive cerebellar ataxia Clumsiness Exotropia Athetosis Thickened calvaria Visceromegaly Oligosacchariduria Nail dysplasia Aspartylglucosaminuria Hearing impairment Gait disturbance Syndactyly Midface retrusion Mandibular prognathia Facial palsy Facial asymmetry Dental malocclusion Impulsivity Maternal diabetes Congenital diaphragmatic hernia Cleft palate Corpus callosum atrophy Rotary nystagmus Progressive spastic paraparesis Progressive flexion contractures Rapid neurologic deterioration Projectile vomiting Sudanophilic leukodystrophy Diffuse cerebral sclerosis Depressed nasal bridge Ankle clonus Ventricular septal defect Microphthalmia Hernia Brachycephaly Retrognathia Sparse hair Pulmonary hypoplasia Wide nose Broad nasal tip Severe failure to thrive Decreased muscle mass Abnormal corpus callosum morphology Highly arched eyebrow Schizencephaly Short stature Cataract Ptosis Macrotia Thin upper lip vermilion Neonatal hypotonia Congenital cataract Smooth philtrum Rhizomelia Paraparesis Progressive spastic quadriplegia Vomiting Kyphoscoliosis Arthrogryposis multiplex congenita Premature birth Focal-onset seizure Progressive neurologic deterioration Leukodystrophy Clonus Inappropriate crying



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