Frontal bossing, and Tachycardia

Diseases related with Frontal bossing and Tachycardia

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

Top matches:

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Medium 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

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Other less relevant matches:

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hypertelorism Atrial septal defect Arrhythmia Cryptorchidism Abnormality of cardiovascular system morphology Downslanted palpebral fissures Hydrocephalus Ventricular septal defect Anteverted nares Prominent forehead Proptosis Inguinal hernia Heart murmur Abnormal heart morphology Micrognathia Thin upper lip vermilion Hernia Short neck Wide mouth Microcephaly Growth delay Abnormality of the skeletal system Abnormal facial shape Epicanthus Wide nasal bridge Short nose Long philtrum Postnatal growth retardation Clinodactyly of the 5th finger Feeding difficulties Cerebral atrophy Premature birth Full cheeks Abnormality of the dentition Joint hyperflexibility Patent ductus arteriosus Brachydactyly Intrauterine growth retardation Ptosis Redundant skin Optic atrophy Coarse facial features Hepatomegaly High palate Finger syndactyly Strabismus Hearing impairment Scoliosis Low-set, posteriorly rotated ears Hypospadias Behavioral abnormality Joint laxity Intellectual disability, mild Mitral valve prolapse Facial asymmetry Osteopenia Rocker bottom foot Pectus excavatum

Rare Symptoms - Less than 30% cases

Cardiomyopathy Respiratory insufficiency Neoplasm Talipes equinovarus Dysarthria Severe short stature Osteoporosis Malar flattening Intellectual disability, moderate Hyperhidrosis Hypermetropia Hypertension Polyhydramnios Hypoglycemia Feeding difficulties in infancy Hypertrophic cardiomyopathy Apnea Capillary malformation Hypogonadism Triangular face Pulmonic stenosis Neurological speech impairment Dehydration Smooth philtrum Sensorineural hearing impairment Narrow chest Toe syndactyly Flexion contracture Congestive heart failure Dolichocephaly Small for gestational age Short toe Clinodactyly Constipation Agenesis of corpus callosum High forehead Retrognathia Pes planus Hydronephrosis Camptodactyly Abnormal form of the vertebral bodies Aortic valve stenosis Wide nose Infantile muscular hypotonia Postural instability Webbed neck Growth hormone deficiency Eczema Ventricular extrasystoles Short chin Acanthosis nigricans Acidosis Arnold-Chiari malformation Hand polydactyly Pyloric stenosis Abnormality of nervous system morphology Bilateral cryptorchidism Tricuspid regurgitation Obstructive sleep apnea Large forehead Labial hypoplasia Natal tooth Thick upper lip vermilion Craniosynostosis Macrotia Macroglossia Recurrent infections Midface retrusion Delayed skeletal maturation Deeply set eye Neonatal hypotonia Pectus carinatum High, narrow palate Small hand Highly arched eyebrow Long eyelashes Cutis laxa Tachypnea Deep philtrum Prominent nasal bridge Ascites Kyphosis Kyphoscoliosis Umbilical hernia Aplasia/Hypoplasia of the eyebrow Joint stiffness Edema Aplasia/Hypoplasia of the cerebellum Abnormality of the curvature of the vertebral column Flat occiput Polymicrogyria Eyelid coloboma Hypoplastic left heart Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Slender finger Abnormal eyelash morphology Bipolar affective disorder Duodenal atresia Transposition of the great arteries Cutis marmorata Atrioventricular canal defect Lipoma Partial agenesis of the corpus callosum Widow's peak Hypermelanotic macule Wheezing Sprengel anomaly Ectopic anus Congenital thrombocytopenia Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Bilateral camptodactyly Toe clinodactyly Broad palm Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism Megakaryocyte dysplasia Mitral stenosis U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Chorioretinal coloboma Shawl scrotum Abnormal thrombocyte morphology Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Hammertoe Spinal canal stenosis Ectropion Interphalangeal joint contracture of finger Iris coloboma Bruising susceptibility Anal atresia Cleft palate Talipes Respiratory distress Upslanted palpebral fissure Abnormality of the eye Abnormality of the pinna Camptodactyly of finger Short palpebral fissure Microcornea Plagiocephaly Hip dislocation Abnormality of vision Patent foramen ovale Mild short stature Thoracic hypoplasia Leukemia External genital hypoplasia Anteriorly placed anus Shallow orbits Skin rash Single transverse palmar crease Intestinal malrotation Trigonocephaly Advanced eruption of teeth Abnormality of the helix Schizophrenia Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Foot polydactyly Horseshoe kidney Bone marrow hypocellularity Spina bifida Leukodystrophy Decreased antibody level in blood Dimple chin Sinusitis Short thumb Amblyopia Pachygyria Broad eyebrow Pancytopenia Coarctation of aorta Female pseudohermaphroditism Microdontia Otitis media Telangiectasia of the skin Preauricular pit Long palpebral fissure Obesity Acromelia Ataxia Short philtrum Micromelia Lactic acidosis Metabolic acidosis Hyperlordosis Increased serum lactate Conductive hearing impairment Aciduria Oligohydramnios Cardiomegaly Sudden cardiac death Renal hypoplasia Hyperreflexia Attention deficit hyperactivity disorder Renal juxtaglomerular cell hypertrophy/hyperplasia Increased serum prostaglandin E2 Cardiac arrest Spontaneous abortion Hyperprostaglandinuria Hyperchloriduria Severe muscular hypotonia Hyperactive renin-angiotensin system Short palm Abnormality of the ilium Increased urinary potassium Wormian bones Abnormality of the elbow Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Elbow dislocation Abnormality of pelvic girdle bone morphology Genu varum Short long bone Diaphyseal thickening Disproportionate short-limb short stature Clonus Dental malocclusion Rhizomelia Dental crowding Bowing of the long bones Abnormality of the metaphysis Lumbar hyperlordosis Neonatal short-limb short stature Long thorax Aplasia/hypoplasia of the extremities Narrow sacroiliac notch Abnormality of the ribs Childhood onset short-limb short stature Limb undergrowth Fetal polyuria Hyperammonemia High hypermetropia Omphalocele Hypercalciuria Hypokalemia Ventricular arrhythmia Nephrocalcinosis Broad nasal tip Generalized muscle weakness Muscle cramps Round face Paresthesia Tetralogy of Fallot Congenital diaphragmatic hernia Diarrhea Polyuria Finger clinodactyly Vomiting Fever Pain Asymmetric growth Atrioventricular block Disproportionate short stature Visceral angiomatosis Cerebral ischemia Arteriovenous malformation Ectopic kidney Nevus flammeus Polydipsia Hyperkalemia Severe failure to thrive Cleft lip Renal potassium wasting Severe lactic acidosis Hypochloremia Hyposthenuria 3-Methylglutaconic aciduria Hypokalemic alkalosis Hypokalemic metabolic alkalosis Pseudohypoaldosteronism Brachycephaly Hypocalciuria Increased circulating renin level Impaired platelet aggregation Hyperthyroidism Oral cleft Thin vermilion border Thick eyebrow Metabolic alkalosis Tetany Chondrocalcinosis Everted lower lip vermilion Alkalosis Abnormally large globe Renal salt wasting Hypomagnesemia Hyperaldosteronism Low-to-normal blood pressure Limited elbow movement Abnormal cardiac septum morphology Torsade de pointes Nystagmus Facial wrinkling Enlarged naris Minimal subcutaneous fat Abnormality of the forehead Abnormal head movements Cardiogenic shock Abnormality of the nares Premature coronary artery atherosclerosis Everted upper lip vermilion Acetabular dysplasia Unilateral cryptorchidism Supraventricular tachycardia Delayed speech and language development Shuffling gait Excessive daytime somnolence Short columella Pulmonary artery stenosis Poor eye contact Delayed cranial suture closure Broad hallux Coarse hair Delayed gross motor development Scrotal hypoplasia Shock Ventricular tachycardia Cognitive impairment Motor delay Microretrognathia Sparse hair Hip dysplasia Abnormality of the skin Nevus Sepsis Tetraplegia Sleep disturbance Hematuria Thick vermilion border Joint hypermobility Astigmatism Delayed puberty Arthrogryposis multiplex congenita Irritability Myopia Abnormality of the nervous system Carcinoma Gastroesophageal reflux Hyperkeratosis Respiratory failure Cerebral cortical atrophy Posteriorly rotated ears Pes cavus Absent speech Renal insufficiency Myopathy Dysphagia Torticollis Low anterior hairline Apraxia Thickened skin Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Protruding tongue Pericardial effusion Recurrent upper respiratory tract infections Increased intracranial pressure Progressive hearing impairment Abnormality of the face Thoracolumbar kyphosis Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Abnormality of the cardiovascular system Cyanosis Limitation of joint mobility Developmental regression Aggressive behavior Hepatosplenomegaly Dyspnea Mandibular prognathia Hyperactivity Increased mean corpuscular volume Inspiratory stridor Sparse and thin eyebrow Localized skin lesion Stereotypy Fine hair Narrow forehead Waddling gait Underdeveloped nasal alae Abnormality of the foot Lethargy Autistic behavior Muscular hypotonia of the trunk Encephalopathy Hypertonia Abnormality of nasopharyngeal adenoids Dysplastic aortic valve Hypochromic anemia Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hyperplasia of the maxilla Overgrowth Epidermal acanthosis Coloboma Hematemesis Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Triangular mouth Melena Deep plantar creases Frontal hirsutism Thin nail Large face Papilloma Bronchomalacia Fetal distress Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Concave nail Ganglioneuroblastoma Vestibular Schwannoma Fasting hypoglycemia Congenital neuroblastoma Telecanthus Hypothyroidism Recurrent respiratory infections Thrombocytopenia Microphthalmia Immunodeficiency Syndactyly Spasticity Cataract Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Lymphangiectasis Deep-set nails Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Hypoplasia of teeth Broad philtrum Thick lower lip vermilion Abnormality of the fingernails Large for gestational age Hypoplastic toenails Hyperglycemia Pleural effusion Aortic aneurysm Failure to thrive in infancy Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Hemangioma Abnormal dermatoglyphics Abnormality of dental enamel Reduced subcutaneous adipose tissue Narrow palate Pointed chin Hoarse voice Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Decreased body weight Hypoplasia of dental enamel Atrial fibrillation Neurodevelopmental delay Keratoconus Abnormal mitral valve morphology Megalencephaly Asymmetric septal hypertrophy Deep palmar crease Redundant neck skin Abnormality of the testis Lack of skin elasticity Central apnea Verrucae Achilles tendon contracture Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Fragile nails Curly hair Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Soft skin Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Secundum atrial septal defect


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