Frontal bossing, and Dilated cardiomyopathy

Diseases related with Frontal bossing and Dilated cardiomyopathy

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


Top matches:

High match MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2


MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

High match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

High match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

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Other less relevant matches:

High match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

High match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium 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

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Medium match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


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

Top 5 symptoms//phenotypes associated to Frontal bossing and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Short stature Scoliosis Muscular hypotonia Mandibular prognathia Microcephaly Strabismus Micrognathia Generalized hypotonia Feeding difficulties Low-set ears Hypertrophic cardiomyopathy Kyphosis Hearing impairment Ventriculomegaly Abnormality of the skeletal system Optic atrophy Coarse facial features Depressed nasal bridge Wide mouth High palate Muscle weakness Hypertelorism Nystagmus Congestive heart failure Behavioral abnormality Ataxia Hepatomegaly Aciduria Hypertrichosis Absent speech Cataract Cognitive impairment Epicanthus Mitral regurgitation Macrocephaly Cerebral cortical atrophy Delayed skeletal maturation Downslanted palpebral fissures Joint stiffness Prominent forehead Hip dysplasia Protruding ear Growth delay Cryptorchidism Delayed speech and language development Visual impairment Myopia Dysphagia Hypoplasia of the corpus callosum Long philtrum Upslanted palpebral fissure Ventricular septal defect

Rare Symptoms - Less than 30% cases


Absence seizures Abnormal diaphysis morphology Camptodactyly Thickened ribs Thick lower lip vermilion Flexion contracture Abnormality of cardiovascular system morphology Decreased body weight Respiratory insufficiency Wide anterior fontanel Cerebral atrophy Sensorineural hearing impairment Malar flattening Dysostosis multiplex Gastroesophageal reflux Synophrys Abnormal heart valve morphology Aplasia/Hypoplasia of the corpus callosum Highly arched eyebrow Generalized hirsutism Wide nasal bridge Hypospadias Optic nerve hypoplasia Abnormal form of the vertebral bodies Periventricular leukomalacia Thick eyebrow Severe muscular hypotonia Delayed closure of the anterior fontanelle Neurological speech impairment Pectus carinatum Feeding difficulties in infancy Brachycephaly Patent ductus arteriosus Deeply set eye Peripheral neuropathy Pectus excavatum Hyperactivity Delayed CNS myelination Dilation of lateral ventricles Hydrocephalus Gait disturbance Aggressive behavior Pointed chin Brachydactyly Coarse hair Atrial septal defect Short neck Pulmonic stenosis Blindness Autism Hypsarrhythmia Splenomegaly Inguinal hernia Short nose Skeletal muscle atrophy Posteriorly rotated ears Colpocephaly Macrotia Skeletal dysplasia Increased serum lactate High forehead Dolichocephaly Epileptic encephalopathy Self-injurious behavior Depressed nasal ridge Cardiomegaly Abnormality of the skin Thick vermilion border Long face Broad nasal tip Failure to thrive Camptodactyly of finger Spinal canal stenosis Anteriorly placed anus Spasticity Hyperlordosis Biliary tract abnormality Cavum septum pellucidum Horizontal eyebrow Talipes valgus Abnormality of chromosome stability Muscle flaccidity Annular pancreas Hypoplastic labia minora Abnormality of the mandible Expressive language delay Aortic arch aneurysm Abnormality of brain morphology Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Abnormal corpus callosum morphology Impaired social interactions Abnormal social behavior Lambdoidal craniosynostosis Cranial nerve VI palsy Abnormality of the optic disc Abnormality of the anus Abnormality of female external genitalia Gastric ulcer Abnormal external genitalia Abnormality of the testis Abnormal left ventricle morphology Dysphasia Neuroblastoma Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system Infantile spasms High hypermetropia Macule Polyphagia Hypermelanotic macule Delayed cranial suture closure Submucous cleft hard palate Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Hand polydactyly Failure to thrive in infancy Patent foramen ovale Pyloric stenosis Abnormality of vision Delayed gross motor development Congenital hypothyroidism Aortic root aneurysm Abnormal renal physiology Optic nerve coloboma Thickened helices Rib fusion Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Volvulus Hypoplastic female external genitalia 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Abnormality of the gastrointestinal tract Foot polydactyly Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Abnormal lung lobation Abnormality of the hairline Hypoplastic nasal bridge Bifid ribs Drooling Muscular hypotonia of the trunk Gait ataxia Cerebellar atrophy Cellular metachromasia Ovoid thoracolumbar vertebrae Heparan sulfate excretion in urine Asymmetric septal hypertrophy Growth abnormality Recurrent upper respiratory tract infections Progressive hearing impairment Delayed puberty Chronic diarrhea Sleep disturbance Hirsutism Difficulty walking Diarrhea Dysarthria Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Subependymal cysts Cardiogenic shock Congenital cataract Abnormality of the foot Infantile encephalopathy Metabolic acidosis Severe lactic acidosis Severe failure to thrive Rocker bottom foot Hyperammonemia Spontaneous abortion Cardiac arrest Aortic valve stenosis Renal hypoplasia Oligohydramnios Lactic acidosis Peripheral axonal neuropathy Prominent nasal bridge Short philtrum Retrognathia Acidosis Abnormal heart morphology Hypertension Abnormality of mitochondrial metabolism Esotropia Inability to walk Distal amyotrophy Glutaric aciduria Anteverted ears Ebstein anomaly of the tricuspid valve Ptosis Scaphocephaly Cystic hygroma Pterygium Deep philtrum Mitral valve prolapse Webbed neck Leukemia Craniosynostosis Polyhydramnios Agenesis of the anterior commissure Myeloproliferative disorder Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Sagittal craniosynostosis Scrotal hypoplasia Narrow naris Involuntary movements Inspiratory stridor Generalized tonic seizures Episodic vomiting Increased CSF protein Turricephaly Stridor Focal impaired awareness seizure Shock Aortic regurgitation Cerebral visual impairment Focal-onset seizure Juvenile myelomonocytic leukemia Flat face Lethargy Irritability Apnea Myoclonus Encephalopathy Vomiting Respiratory distress Dysplastic pulmonary valve Atrial septal dilatation Infantile muscular hypotonia Hypermetropia Sacral dimple Severe global developmental delay Hypodontia Delayed eruption of teeth Single transverse palmar crease Tapered finger Everted lower lip vermilion Wide nose Short distal phalanx of finger Joint hypermobility Joint hyperflexibility Mental deterioration Tetraplegia Telecanthus Pes planus Kyphoscoliosis Cafe-au-lait spot Reduced subcutaneous adipose tissue Intellectual disability, mild Hypertonia Intellectual disability, severe Malar rash Hypoplasia of the maxilla Short metacarpal Decreased beta-galactosidase activity Schizophrenia Loss of consciousness Emphysema Abnormality of neuronal migration Cutis marmorata Large hands Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Prominent supraorbital ridges Redundant skin Sleep apnea Dental malocclusion Widely spaced teeth Cutis laxa Narrow palate Coxa valga Abnormality of the hair Abnormality of retinal pigmentation Open mouth Cerebellar vermis hypoplasia Psychosis Abnormality of ganglioside metabolism Cerebral degeneration Progressive spasticity Autistic behavior Thrombocytopenia Weight loss Dementia Severe short stature Recurrent respiratory infections Dystonia Tremor Intellectual disability, moderate Hyperreflexia Smooth philtrum Hepatosplenomegaly Astigmatism Periventricular gray matter heterotopia Single median maxillary incisor Increased mean corpuscular volume Abnormal hair pattern Biparietal narrowing Proximal placement of thumb Chronic otitis media Preauricular skin tag Arthralgia Developmental regression Abnormality of the scrotum Beaking of vertebral bodies Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Generalized dystonia Corneal opacity Bundle branch block Encephalitis Abnormality of the urinary system Gingival overgrowth Abnormality of epiphysis morphology Abnormality of the metaphysis Macroglossia Abdominal distention Neurodegeneration Abnormality of movement Broad hallux Abnormality of digit Bicuspid aortic valve Small for gestational age Renal cyst Short foot Hepatic steatosis Polymicrogyria Oral cleft Cleft upper lip Poor speech Triangular face Abnormality of the cerebral white matter Microtia Brain atrophy Abnormal cardiac septum morphology Coloboma Blepharophimosis Abnormality of the liver Abnormality of the pinna Abnormality of the eye Abnormality of the kidney Low-set, posteriorly rotated ears Hydronephrosis Bifid uvula Delayed myelination Conductive hearing impairment Large fontanelles Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis Narrow palpebral fissure Short phalanx of finger Stereotypy Telangiectasia Heterotopia Intestinal malrotation Pachygyria Tetraparesis Ventricular hypertrophy Interphalangeal joint contracture of finger Abnormality of the ribs Coarctation of aorta Optic disc pallor Hypoplasia of penis Tetralogy of Fallot Abnormal blistering of the skin Neonatal hypotonia EEG abnormality Broad palm Myelopathy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Premature loss of primary teeth Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Abnormal aortic valve morphology Stooped posture Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Soft skin Severe sensorineural hearing impairment Atonic seizures Thickened calvaria Cataplexy Pseudoepiphyses of the metacarpals Hypothyroidism Obesity Narrow mouth Micropenis Hypogonadism Intrauterine growth retardation Pes cavus Agenesis of corpus callosum Constipation Clinodactyly of the 5th finger Clinodactyly Recurrent infections Retinoschisis Midface retrusion Myopathy Skin rash Cleft palate Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis 3-Methylglutaconic aciduria



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