Frontal bossing, and Hyperactivity

Diseases related with Frontal bossing and Hyperactivity

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

Top matches:

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Other less relevant matches:

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

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

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Macrocephaly Cognitive impairment Motor delay Hypertelorism Autism Attention deficit hyperactivity disorder Muscular hypotonia Delayed speech and language development Ventriculomegaly Midface retrusion Broad forehead Microcephaly Spasticity Failure to thrive Optic atrophy Anxiety Mandibular prognathia Wide nasal bridge Prominent forehead

Rare Symptoms - Less than 30% cases

Behavioral abnormality Aggressive behavior Pneumonia Short philtrum Low-set ears Autistic behavior Hypotelorism Paralysis Cerebellar vermis hypoplasia Nystagmus Ptosis Macrotia Ataxia Spastic tetraplegia Encephalopathy Hypoplasia of the corpus callosum Depressed nasal bridge Long philtrum Cerebellar hypoplasia Growth delay Neonatal hypotonia Long nose Micropenis Cerebral cortical atrophy Feeding difficulties Tremor Gastroesophageal reflux Short nose Overgrowth Deeply set eye Neurological speech impairment Dilatation Malar flattening Prominent nose Postnatal macrocephaly Intellectual disability, severe Focal-onset seizure Tetraplegia Tall stature Long face Poor speech Constriction of peripheral visual field Broad ribs Abnormality of the nose Hyperostosis Craniofacial hyperostosis Anosmia Fingernail dysplasia Increased intracranial pressure Abnormal cortical bone morphology Diaphyseal thickening Abnormal cranial nerve morphology Abnormality of pelvic girdle bone morphology Hearing impairment Cutaneous syndactyly Lissencephaly Short neck Cerebellar atrophy Hernia Inguinal hernia Clinodactyly of the 5th finger Narrow mouth High forehead Wide nose Hypoplasia of penis Pointed chin Congenital hip dislocation Large for gestational age Increased bone mineral density Disproportionate tall stature Sensorineural hearing impairment Syndactyly Headache Visual loss Proptosis Facial palsy Finger syndactyly Dental malocclusion Esotropia Nail dysplasia Deviation of finger Respiratory failure Esodeviation Short attention span Hyperammonemia Global brain atrophy Partial agenesis of the corpus callosum Infantile spasms Central hypotonia Hyperventilation Ketosis Mild global developmental delay Mild microcephaly Preeclampsia Increased CSF lactate Heterotopia 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 Tachypnea Clumsiness Broad clavicles Areflexia Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Sclerotic scapulae Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Dysarthria Anteverted nares Dystonia Cerebral atrophy Agenesis of corpus callosum Choreoathetosis Acidosis Abnormality of the nervous system Small for gestational age Lethargy Ophthalmoplegia Abnormality of eye movement Lactic acidosis Metabolic acidosis Coma Brain atrophy Increased serum lactate Downslanted palpebral fissures Narrow palate High palate EEG abnormality Biparietal narrowing Severe combined immunodeficiency Increased head circumference Hyperreflexia Hydrocephalus Hypertonia Absent speech Myoclonus Coarse facial features Muscular hypotonia of the trunk Lymphopenia Severe global developmental delay Everted lower lip vermilion Dandy-Walker malformation Epileptic encephalopathy Cerebral calcification Open mouth Long eyelashes Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Combined immunodeficiency Pancytopenia Gait ataxia Hyperlordosis Abnormal heart morphology Constipation Abnormality of the pinna Protruding ear Relative macrocephaly Anteriorly placed anus Large forehead Frontal upsweep of hair Underdeveloped superior crus of antihelix Microtia Decreased antibody level in blood Generalized myoclonic seizures Delayed myelination Delayed gross motor development Neoplasm Fever Immunodeficiency Recurrent infections Obesity Hepatosplenomegaly Lymphadenopathy Cryptorchidism Thin upper lip vermilion Facial hypotonia Smooth philtrum Vertebral fusion Butterfly vertebrae Hyperplasia of the maxilla Thoracic kyphoscoliosis Abnormality of brain morphology Exaggerated median tongue furrow Short stature Epicanthus Posteriorly rotated ears Thick eyebrow Self-injurious behavior Short distal phalanx of finger Thick vermilion border Highly arched eyebrow Sleep disturbance Gingival overgrowth Widely spaced teeth Schizophrenia Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay 2-3 toe syndactyly Exotropia Intellectual disability, moderate Microphallus Dysmetria Abnormal cerebellum morphology Triangular face Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Poor eye contact Enlarged cisterna magna Abnormality of the philtrum Stereotypy Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Scoliosis Myopia Pectus carinatum Lumbar hyperlordosis Mitral regurgitation Abnormality of the genital system Dental crowding Apneic episodes precipitated by illness, fatigue, stress


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