Frontal bossing, and Brain atrophy

Diseases related with Frontal bossing and Brain atrophy

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

Top matches:

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

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Other less relevant matches:

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

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

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

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Top 5 symptoms//phenotypes associated to Frontal bossing and Brain atrophy

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Intellectual disability Hypoplasia of the corpus callosum Cerebral atrophy Hydrocephalus Long face Triangular face Deeply set eye Prominent forehead Feeding difficulties Nystagmus Delayed speech and language development Long philtrum Motor delay Low-set ears Cerebellar hypoplasia Strabismus Cerebral cortical atrophy Microcephaly

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Spastic tetraparesis Downslanted palpebral fissures Cognitive impairment Facial palsy Poor eye contact Ataxia Encephalopathy Tetraparesis Spastic tetraplegia Peripheral demyelination Full cheeks Gliosis High palate Gait ataxia Xanthine nephrolithiasis Ectopia lentis Mandibular prognathia Macrotia Opisthotonus Absent speech Axonal loss Lens luxation Myoclonic spasms Hypouricemia Increased urinary taurine Midface retrusion Abnormal cerebellum morphology Molybdenum cofactor deficiency Increased urinary hypoxanthine Thick vermilion border Xanthinuria Growth delay Inguinal hernia Poor speech Short nose Arachnodactyly Adducted thumb Spasticity Muscle weakness Failure to thrive Malar flattening Irritability Joint dislocation Mitral regurgitation Blue sclerae Mitral valve prolapse Generalized muscle weakness EEG abnormality Bruising susceptibility Abnormal muscle tone Joint hypermobility Talipes Scarring Protruding ear Dental crowding Hyperextensible skin Delayed gross motor development Hemiplegia Poor head control Feeding difficulties in infancy Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Hypoplasia of the musculature Progressive microcephaly Neuronal loss in central nervous system Hyperreflexia Hypertonia Severe global developmental delay Absent urinary urothione Sulfite oxidase deficiency Remnants of the hyaloid vascular system Congenital muscular dystrophy Hypoplasia of the brainstem Osteopetrosis Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Retinal dysplasia Corpus callosum atrophy Peters anomaly Type II lissencephaly Agyria Short femoral neck Lissencephaly Cardiorespiratory arrest Diffuse cerebral atrophy Anemia Hepatomegaly Optic atrophy Gait disturbance Vomiting Splenomegaly Thrombocytopenia Leukopenia Short chin Optic nerve hypoplasia Large fontanelles Decreased urinary sulfate Elevated serum creatine phosphokinase Increased urinary sulfite Uncontrolled eye movements Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Decreased urinary urate Hepatosplenomegaly Aldehyde oxidase deficiency Cataract Respiratory insufficiency Microphthalmia Areflexia Telecanthus Heterotopia Glaucoma Retrognathia Microtia Increased head circumference Muscular dystrophy Polymicrogyria Retinal detachment Dandy-Walker malformation Decreased fetal movement Intellectual disability, profound Encephalocele Pachygyria Camptodactyly Lumbar hyperlordosis Myalgia Hypermethioninemia Elevated hepatic transaminase Pulmonic stenosis Hepatic steatosis Coarctation of aorta Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Narrow foot Skeletal muscle atrophy Muscular hypotonia Cryptorchidism Tremor Dilatation Hyperactivity Micropenis Autism Thin upper lip vermilion Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Atrial septal defect Sensorineural hearing impairment Neurological speech impairment Agenesis of corpus callosum Dystonia Inability to walk Epileptic encephalopathy Involuntary movements Severe muscular hypotonia Self-injurious behavior Neurodevelopmental delay Short neck Obesity Pectus excavatum Clinodactyly Polyhydramnios Hearing impairment Pectus carinatum Finger syndactyly Hip dislocation Genu valgum Osteoarthritis Abnormality of epiphysis morphology Lymphedema Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Short philtrum Dysmetria Arthralgia Communicating hydrocephalus Prominent nasal bridge Overgrowth High myopia Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Long foot Slender build Joint laxity Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Pain Talipes equinovarus Myopathy Hernia Brachycephaly Narrow mouth Hyperlordosis Difficulty walking Prominent nose Abnormality of the philtrum Focal-onset seizure Hypotelorism Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Long nose Enlarged cisterna magna Microphallus Retrocerebellar cyst Pes planus Infra-orbital crease Disorganization of the anterior cerebellar vermis Scoliosis Myopia Cerebellar atrophy Kyphosis Posteriorly rotated ears Upslanted palpebral fissure Proptosis High forehead Kyphoscoliosis Increased density of long bones


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