Frontal bossing, and Lethargy

Diseases related with Frontal bossing and Lethargy

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

Top matches:

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

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

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

Other less relevant matches:

High match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

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

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Hypertelorism Ventriculomegaly Cryptorchidism Low-set ears Muscular hypotonia Wide nasal bridge Anteverted nares Prominent forehead Encephalopathy Midface retrusion Intrauterine growth retardation Scoliosis Inguinal hernia Malar flattening Confusion Short stature Strabismus Heterotopia Dilatation Hydrocephalus Agenesis of corpus callosum Hyperactivity Cerebral cortical atrophy Short nose Vomiting Myopia Cataract Hernia Postnatal growth retardation Long philtrum Downslanted palpebral fissures Epicanthus Failure to thrive Protruding ear Feeding difficulties Macrocephaly Mandibular prognathia Behavioral abnormality Cerebral atrophy Areflexia Hip dislocation Pachygyria Ataxia Coma Pes planus Motor delay Small for gestational age

Rare Symptoms - Less than 30% cases

Oral cleft Cardiogenic shock Depressed nasal bridge High palate Microtia Abnormality of the dentition Hyperlordosis Abnormality of the skeletal system Retinal detachment Delayed eruption of teeth Flat face Shock Severe muscular hypotonia Delayed skeletal maturation Dolichocephaly Irritability Lissencephaly Coarse facial features Skeletal dysplasia Excessive daytime sleepiness Brachycephaly Optic atrophy Hypospadias Abnormal heart morphology Proptosis Retinopathy Dandy-Walker malformation Congenital hip dislocation Polymicrogyria Hyporeflexia Posteriorly rotated ears Clinodactyly High forehead Hypoplasia of the corpus callosum Cleft lip Brachydactyly Peripheral neuropathy Joint hypermobility Deeply set eye Cleft palate Everted upper lip vermilion Thick upper lip vermilion Delayed cranial suture closure Broad hallux Redundant skin Coarse hair Cutis laxa Stereotypy Small hand Clinodactyly of the 5th finger Delayed speech and language development Microcornea Metabolic acidosis Blindness Partial agenesis of the corpus callosum Cognitive impairment Short attention span Hypertriglyceridemia Intellectual disability, severe Dysarthria Paralysis Episodic vomiting Acidosis Micrognathia Muscle weakness Visual impairment Muscular dystrophy Myopathy Respiratory distress Spasticity Myoclonus Broad thumb Postaxial hand polydactyly Congenital diaphragmatic hernia Joint contracture of the hand Postural instability Craniosynostosis Postaxial polydactyly Hirsutism Toe syndactyly Finger syndactyly Camptodactyly Telecanthus Umbilical hernia Polydactyly Syndactyly Accelerated skeletal maturation Trigonocephaly Plagiocephaly Abnormality of finger Abnormality of calvarial morphology Camptodactyly of toe Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Broad hallux phalanx High anterior hairline Postaxial foot polydactyly Cutaneous syndactyly Foot polydactyly Scaphocephaly Cutaneous finger syndactyly Abnormality of digit Large for gestational age Preaxial hand polydactyly Hyperglycemia Osteoporosis Hand polydactyly Preaxial polydactyly Intellectual disability, mild Prominent supraorbital ridges Abnormal isoelectric focusing of serum transferrin Distal sensory impairment Hemiparesis Intention tremor Status epilepticus Type II diabetes mellitus Pigmentary retinopathy Migraine Sensory impairment Polyneuropathy Sensory neuropathy Cirrhosis Sensorimotor neuropathy Nausea Peripheral axonal neuropathy Unsteady gait Hyperlipidemia Abnormality of the liver Mental deterioration Photophobia Gait ataxia Hypogonadism Rod-cone dystrophy Cholestasis Hypergonadotropic hypogonadism Oxycephaly Carious teeth Severe intrauterine growth retardation Lipodystrophy Brittle hair Duplication of the distal phalanx of hand Growth abnormality Diabetes mellitus Wide anterior fontanel Large fontanelles High myopia Hypoglycemia Downturned corners of mouth Bilateral single transverse palmar creases Feeding difficulties in infancy Narrow mouth Biliary tract abnormality Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Agitation Apathy Spastic paraparesis Paraparesis 3-4 finger syndactyly Microphthalmia 1-3 toe syndactyly Severe short stature Decreased testicular size Triangular face Everted lower lip vermilion Thick vermilion border Thick eyebrow Bulbous nose Micromelia Joint hyperflexibility Broad forehead Joint laxity Pectus excavatum Abnormality of the metaphysis Kyphosis Short neck Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Thick lower lip vermilion Narrow face Abnormality of the cerebellar vermis Slender long bone Hypoplastic pubic bone Horizontal ribs Hypoplastic ischia Enlarged thorax Abnormality of the cerebral vasculature Hypoplastic pelvis Short 5th finger Abnormality of the elbow Thin ribs Disproportionate short stature Decreased fertility Short ribs Short thorax Mild short stature Hypoplasia of the ulna Rocker bottom foot Neonatal respiratory distress Short long bone Spina bifida occulta Scapular winging Joint dislocation Abnormality of dental enamel Pointed chin Metatarsus valgus Abnormal levels of creatine kinase in blood Flexion contracture Cleft upper lip Optic nerve hypoplasia Renal dysplasia Encephalocele Cerebellar vermis hypoplasia Intellectual disability, profound Hypoplasia of penis Specific learning disability Bifid uvula Retinal dystrophy Iris coloboma Anal atresia Congenital contracture Congenital cataract Abnormality of the cerebral white matter Corneal opacity Coloboma Hydronephrosis Glaucoma Cerebellar hypoplasia Elevated serum creatine phosphokinase Headache Skeletal muscle atrophy Atresia of the external auditory canal Congenital muscular dystrophy Hypoglycosylation of alpha-dystroglycan Buphthalmos Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Anophthalmia Abnormal cortical gyration Retinal dysplasia Bilateral cleft lip Megalocornea Retinal atrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Hypoplasia of the brainstem Depressivity Abnormality of the forearm Tremor Waddling gait Ventricular tachycardia Torticollis Microretrognathia Low anterior hairline Sparse and thin eyebrow Central hypotonia Long eyelashes Fine hair Narrow forehead Underdeveloped nasal alae Scrotal hypoplasia Highly arched eyebrow Hyperventilation High, narrow palate Tachycardia Abnormality of the foot Pectus carinatum Autistic behavior Ketosis Muscular hypotonia of the trunk Neonatal hypotonia Infantile spasms Delayed gross motor development Thin upper lip vermilion Supraventricular tachycardia Minimal subcutaneous fat Abnormality of the forehead Abnormal head movements Abnormality of the nares Capillary malformation Premature coronary artery atherosclerosis Choreoathetosis Acetabular dysplasia Unilateral cryptorchidism Torsade de pointes Clumsiness Deep philtrum Shuffling gait Excessive daytime somnolence Ventricular extrasystoles Short columella Pulmonary artery stenosis Poor eye contact Aplasia/Hypoplasia of the eyebrow Tachypnea Hyperammonemia Global brain atrophy Mild global developmental delay Macrotia Facial wrinkling Absence seizures Delayed CNS myelination Dilation of lateral ventricles Increased CSF protein Turricephaly Stridor Focal impaired awareness seizure Chronic lactic acidosis Aortic regurgitation Basal ganglia cysts Cerebral visual impairment Generalized tonic seizures Involuntary movements Hypsarrhythmia Epileptic encephalopathy Focal-onset seizure Aciduria Broad nasal tip Apneic episodes precipitated by illness, fatigue, stress Apnea Respiratory insufficiency Cardiomyopathy Periventricular leukomalacia Inspiratory stridor Mild microcephaly Broad philtrum Preeclampsia Arrhythmia Increased CSF lactate Breech presentation Recurrent infections Episodic ataxia Hypertonia Atrial septal defect Ventricular septal defect Severe lactic acidosis Olivopontocerebellar atrophy Narrow naris Hyperalaninemia Flared nostrils Decreased activity of the pyruvate dehydrogenase complex Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Subependymal cysts Congenital lactic acidosis Glutaric aciduria Infantile encephalopathy Anteverted ears Enlarged naris Hearing impairment Adrenal insufficiency Self-injurious behavior Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Impulsivity Poor suck Self-mutilation Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Hypercholesterolemia Pathologic fracture Increased body weight Hoarse voice Abnormal vertebral morphology Sinusitis Overweight Chronic constipation Ketoacidosis Hyperacusis Hepatomegaly Sleep-wake inversion Frequent temper tantrums Head-banging Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Mood changes Bruxism Recurrent aspiration pneumonia Loss of consciousness Velopharyngeal insufficiency Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Duodenal atresia Hypoplasia of dental enamel Omphalocele Sensorineural hearing impairment Abnormality of metabolism/homeostasis Gastroesophageal reflux Polyhydramnios Hypothyroidism Upslanted palpebral fissure Pes cavus Constipation Dystonia Pneumonia Respiratory failure Obesity Abnormality of cardiovascular system morphology EEG abnormality Abnormality of the nervous system Edema Ophthalmoplegia Abnormality of eye movement Lactic acidosis Tetraplegia Brain atrophy Increased serum lactate Pain Spastic tetraplegia Ptosis Conductive hearing impairment Broad-based gait Nephropathy Decreased fetal movement Abnormality of the cardiovascular system Otitis media Esotropia Full cheeks Macroglossia Adrenal hypoplasia Single transverse palmar crease Sleep disturbance Congenital adrenal hypoplasia Short palm Anxiety Falls Adrenocortical hypoplasia Paresthesia Dry skin Synophrys Increased urinary glycerol Hyperglycerolemia Abnormality of the kidney Intellectual disability, moderate Aggressive behavior Increased vertebral height


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