Frontal bossing, and Cerebral cortical atrophy

Diseases related with Frontal bossing and Cerebral cortical atrophy

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


Top matches:

High 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

High 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

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


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

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Other less relevant matches:

High 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

High match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

High match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A


Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

High match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

High match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

High match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Top 5 symptoms//phenotypes associated to Frontal bossing and Cerebral cortical atrophy

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

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

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, severe Ataxia Spasticity Ventriculomegaly Micrognathia Microcephaly Wide nasal bridge Anteverted nares Mandibular prognathia Hyperactivity High palate Cognitive impairment Macrocephaly Atrial septal defect Dystonia Cerebral atrophy Encephalopathy Poor eye contact Cleft palate Heterotopia Flat face Long face Scoliosis Hypertelorism Agenesis of corpus callosum Downslanted palpebral fissures Thin upper lip vermilion Growth delay Macrotia Abnormality of metabolism/homeostasis Motor delay High forehead Epicanthus Cryptorchidism Severe muscular hypotonia Upslanted palpebral fissure Posteriorly rotated ears Dilatation Absent speech Malar flattening Feeding difficulties

Rare Symptoms - Less than 30% cases


Metopic synostosis Areflexia Large hands Megalencephaly Ptosis Paralysis Lethargy Tetraplegia Spastic tetraplegia Choreoathetosis Infantile spasms Dysphagia Cavum septum pellucidum Abnormality of cardiovascular system morphology Gastroesophageal reflux Cataract Depressed nasal bridge Hernia Cleft lip Pulmonary hypoplasia Concave nasal ridge Constipation Short nose Prominent nasal bridge Flexion contracture Visual impairment Hearing impairment Abnormal heart morphology Inguinal hernia Inspiratory stridor Delayed CNS myelination Stridor Protruding ear Coarse facial features Brachycephaly Prominent occiput Respiratory insufficiency Overgrowth Abnormality of neuronal migration Abnormal cerebellum morphology Self-injurious behavior Intellectual disability, moderate Hypoplasia of the corpus callosum Cerebellar vermis hypoplasia Neonatal hypotonia Midface retrusion Epileptic encephalopathy Involuntary movements Autism Attention deficit hyperactivity disorder Gait ataxia Focal impaired awareness seizure Nystagmus Micropenis Enlarged cisterna magna Delayed speech and language development Cerebellar hypoplasia Cerebellar atrophy Low-set ears Triangular face Neurological speech impairment Focal-onset seizure Kyphoscoliosis Pes planus Joint laxity Clinodactyly Bilateral cleft palate Coronal cleft vertebrae Hypoplasia of the epiglottis Thin vermilion border Polysplenia Multiple epiphyseal dysplasia Pregnancy exposure Severe failure to thrive Epiphyseal stippling Sparse body hair Flared metaphysis Calcific stippling of infantile cartilaginous skeleton Postnatal growth retardation Paraplegia Neoplasm Spastic paraplegia Laryngeal cleft Short lingual frenulum Camptodactyly Failure to thrive EEG abnormality Intrauterine growth retardation Vascular ring Polyhydramnios Rectal atresia Polydactyly Clinodactyly of the 5th finger Congenital contracture Anal stenosis Epiphyseal dysplasia Periventricular gray matter heterotopia Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Encopresis Oppositional defiant disorder Abnormal head movements Short stature Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Large forehead Macroorchidism Severe temper tantrums Sensorineural hearing impairment Spina bifida occulta Ichthyosis Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Congenital diaphragmatic hernia Wide nose Limitation of joint mobility Short distal phalanx of finger Polymicrogyria Dry skin Rectourethral fistula Pulmonic stenosis Congenital cataract Severe global developmental delay Severe short stature Alopecia Posterior pharyngeal cleft Abnormality of the dentition Pain Limb undergrowth Narrow forehead Nephropathy Cleft upper lip Dandy-Walker malformation Intestinal malrotation Bilateral cleft lip and palate Vesicoureteral reflux Abnormality of the respiratory system Bifid uvula High, narrow palate Iris coloboma Oral cleft Pulmonary arterial hypertension Widow's peak Smooth philtrum Anal atresia Bicornuate uterus Sagittal craniosynostosis Cough Abnormal cardiac septum morphology Coloboma Coarctation of aorta Diastasis recti Abnormality of the kidney Recurrent upper respiratory tract infections Limb dystonia Weak cry Rocker bottom foot Tracheoesophageal fistula Prominent metopic ridge Bifid scrotum Oral-pharyngeal dysphagia Abnormality of the urinary system Laryngomalacia Recurrent urinary tract infections Anosmia Cardiac arrest Hoarse voice Aortic valve stenosis Tracheomalacia Hiatus hernia Aspiration Bilateral cleft lip Broad palm Dilated fourth ventricle Single transverse palmar crease Lissencephaly Cranial asymmetry Premature skin wrinkling Progressive spastic paraplegia Spastic diplegia Deep philtrum Infantile muscular hypotonia Aplasia/Hypoplasia of the cerebellar vermis Sacral dimple Joint contracture of the hand Unilateral cleft lip Hoarse cry Spastic gait Pachygyria Omphalocele Decreased fetal movement Abnormality of the ureter Abnormality of the cardiovascular system Delayed eruption of teeth Absent gallbladder Duodenal atresia Telecanthus Bitemporal hollowing Hydronephrosis Conductive hearing impairment Umbilical hernia Rod-cone dystrophy Patent ductus arteriosus Hypospadias Intellectual disability, mild Ventricular septal defect Midline brain calcifications Thick upper lip vermilion Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Agyria Recurrent aspiration pneumonia Ankyloglossia Deep palmar crease Craniosynostosis Gliosis Polyphagia Clumsiness Mild global developmental delay Ketosis Hyperventilation Central hypotonia Partial agenesis of the corpus callosum Global brain atrophy Hyperammonemia Tachypnea Increased serum lactate Preeclampsia Brain atrophy Coma Metabolic acidosis Lactic acidosis Abnormality of eye movement Ophthalmoplegia Small for gestational age Abnormality of the nervous system Mild microcephaly Short attention span Respiratory failure Chronic lactic acidosis Behavioral abnormality Vomiting Blindness Cardiomyopathy Respiratory distress Muscle weakness Apneic episodes precipitated by illness, fatigue, stress Basal ganglia cysts Congenital lactic acidosis Increased CSF lactate Decreased activity of the pyruvate dehydrogenase complex Flared nostrils Hyperalaninemia Olivopontocerebellar atrophy Broad philtrum Severe lactic acidosis Episodic ataxia Breech presentation Acidosis Pneumonia Skeletal dysplasia Intention tremor Infra-orbital crease Retrocerebellar cyst Abnormality of the philtrum Microphallus Long nose External genital hypoplasia Prominent supraorbital ridges Scrotal hypoplasia Hypotelorism Myopia Prominent nose Dysmetria Poor speech Short philtrum Deeply set eye Tremor Neurodevelopmental delay Inability to walk Disorganization of the anterior cerebellar vermis Hydrocephalus Long philtrum Long fingers Dysarthria Severe expressive language delay Thick corpus callosum Long neck Expressive language delay Slender build Communicating hydrocephalus Long foot Disproportionate tall stature Kyphosis Sparse eyebrow Tall stature Lumbar hyperlordosis High myopia Arachnodactyly Hyperlordosis Difficulty walking Proptosis Myoclonus Apnea Chronic otitis media Corpus callosum atrophy Autoamputation of digits Autoamputation Cerebellar cortical atrophy Spinal deformities EMG: chronic denervation signs Degeneration of the lateral corticospinal tracts Urinary retention Morphological abnormality of the pyramidal tract Lewy bodies Cerebellar gliosis Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Diabetes insipidus Epiphora Keratitis Poor suck Decreased nerve conduction velocity Hypothalamic hypothyroidism Obesity Progressive neurologic deterioration Round face Premature ovarian insufficiency Relative macrocephaly Hyperkinesis Narrow face Sinusitis Hyperpigmentation of the skin Mitral valve prolapse Otitis media Postural instability Depressivity Thick vermilion border Joint hypermobility Facial asymmetry Wide mouth Autistic behavior Aggressive behavior Anxiety Pectus excavatum Sensorimotor neuropathy Tetraparesis Irritability Increased CSF protein Glutaric aciduria Infantile encephalopathy Anteverted ears Narrow naris Generalized tonic seizures Episodic vomiting Periventricular leukomalacia Dilation of lateral ventricles Turricephaly Subependymal cysts Shock Aortic regurgitation Absence seizures Cerebral visual impairment Hypsarrhythmia Aciduria Broad nasal tip Dolichocephaly Cardiogenic shock D-2-hydroxyglutaric aciduria Abnormality of extrapyramidal motor function Developmental regression Neuronal loss in central nervous system Generalized myoclonic seizures Parkinsonism Generalized muscle weakness Neurodegeneration Unsteady gait Abnormality of the cerebral white matter Abnormal pyramidal sign Mental deterioration Multifocal cerebral white matter abnormalities Muscular hypotonia of the trunk Hypothyroidism Dementia Visual loss Optic atrophy Fever Hyperreflexia Peripheral neuropathy Absent pulmonary artery



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