Spasticity, and Frontal bossing

Diseases related with Spasticity and Frontal bossing

In the following list you will find some of the most common rare diseases related to Spasticity and Frontal bossing that can help you solving undiagnosed cases.


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR


NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

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 RECESSIVE; NDHMSR

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).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, 49; EIEE49

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

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Other less relevant matches:

Medium match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

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 SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Medium match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Medium match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Spasticity and Frontal bossing

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

Patients with Spasticity and Frontal bossing. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly Macrocephaly Encephalopathy Ataxia Hyperactivity Growth delay Hypertelorism Spastic tetraplegia Muscular hypotonia Nystagmus Abnormal facial shape Hypertonia Cerebral atrophy Hypoplasia of the corpus callosum Strabismus Hydrocephalus Long face Cryptorchidism Short nose Cognitive impairment Gait ataxia Long philtrum Intellectual disability, severe Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Myoclonic spasms Intention tremor Autism Deeply set eye Intellectual disability, moderate Attention deficit hyperactivity disorder Hypogonadism Thick vermilion border Gliosis Full cheeks Brain atrophy Rod-cone dystrophy Peripheral demyelination Peripheral neuropathy Lens luxation Xanthine nephrolithiasis Hypouricemia Axonal loss Molybdenum cofactor deficiency Increased urinary hypoxanthine Xanthinuria Opisthotonus Ectopia lentis Failure to thrive Anteverted nares Spastic tetraparesis Coma Irritability Short stature Tetraparesis Increased urinary taurine Micropenis Prominent forehead Macrotia Prominent nose Dysarthria Tetraplegia Severe global developmental delay Short philtrum Anxiety EEG abnormality Optic atrophy Peripheral axonal neuropathy Hyperreflexia Poor eye contact Pigmentary retinopathy Clumsiness Epileptic encephalopathy Absent speech Midface retrusion Dystonia Cataract Feeding difficulties Delayed speech and language development Dilatation Motor delay Small for gestational age Long eyelashes Tremor Hypotelorism Headache Progressive gait ataxia Depressivity Bilateral single transverse palmar creases Vomiting Hypergonadotropic hypogonadism Recurrent hypoglycemia Sensorimotor neuropathy Titubation Cholestasis Hemiparesis Photophobia Nausea Hepatomegaly Alopecia areata Central heterochromia Distal sensory impairment Sensory neuropathy Polyneuropathy Visual impairment Unsteady gait Sensory impairment Epicanthus Type II diabetes mellitus Cirrhosis Confusion Retinopathy Long eyebrows Abnormality of the liver Mental deterioration Choroideremia Status epilepticus Migraine Global brain atrophy Paraparesis Talipes equinovarus Increased CSF lactate Breech presentation Episodic ataxia Severe lactic acidosis Broad philtrum Olivopontocerebellar atrophy Hyperalaninemia Flared nostrils Decreased activity of the pyruvate dehydrogenase complex Congenital lactic acidosis Chronic lactic acidosis Basal ganglia cysts Apneic episodes precipitated by illness, fatigue, stress Scoliosis Atrial septal defect Preeclampsia Behavioral abnormality Intellectual disability, mild Hypospadias Glaucoma Gastroesophageal reflux Autistic behavior Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Specific learning disability Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Short attention span Mild microcephaly Spastic paraparesis Paralysis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Biliary tract abnormality Ptosis Wide nasal bridge Areflexia Pneumonia Agenesis of corpus callosum Respiratory failure Acidosis Abnormality of the nervous system Lethargy Mild global developmental delay Hyperammonemia Ketosis Hyperventilation Central hypotonia Infantile spasms Partial agenesis of the corpus callosum Chorioretinal atrophy Tachypnea Ophthalmoplegia Heterotopia Choreoathetosis Increased serum lactate Metabolic acidosis Lactic acidosis Abnormality of eye movement Retinal atrophy Sulfite oxidase deficiency Sensory axonal neuropathy Low-set ears Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Long nose Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Depressed nasal bridge Cerebellar vermis hypoplasia Malar flattening Proptosis Retrognathia Telecanthus Protruding ear Craniosynostosis Blepharophimosis Facial asymmetry Downturned corners of mouth Small hand Microretrognathia Scrotal hypoplasia Focal-onset seizure Increased intracranial pressure Cerebral calcification Inability to walk Involuntary movements Severe muscular hypotonia Self-injurious behavior Neurodevelopmental delay Myoclonus Coarse facial features Muscular hypotonia of the trunk Everted lower lip vermilion Dandy-Walker malformation Open mouth Triangular face Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Cerebellar hypoplasia Mandibular prognathia Thin upper lip vermilion Neonatal hypotonia Neurological speech impairment Poor speech Dysmetria Abnormal cerebellum morphology Plagiocephaly Optic nerve hypoplasia Hypogonadotrophic hypogonadism Distal muscle weakness Diffuse cerebral atrophy Muscle weakness Cerebellar atrophy Obesity Alopecia Severe short stature Hypothyroidism Hypoglycemia Pallor Sparse hair Spastic paraplegia Aldehyde oxidase deficiency Delayed puberty Paraplegia Retinal degeneration Distal amyotrophy Thick eyebrow Progressive cerebellar ataxia Growth hormone deficiency Hypoplasia of penis Sparse scalp hair Gynecomastia Horizontal nystagmus Cardiorespiratory arrest Absent urinary urothione Flat occiput Diminished ability to concentrate External ear malformation Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Dimple chin Lambdoidal craniosynostosis Craniofacial dysostosis Ectopic posterior pituitary Prominent scalp veins Round ear Pansynostosis Decreased urinary urate Posterior plagiocephaly Feeding difficulties in infancy Neuronal loss in central nervous system Progressive microcephaly Poor head control Hemiplegia Abnormal muscle tone Decreased urinary sulfate Increased urinary sulfite Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Constrictive median neuropathy



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