Cardiomyopathy, and Wide mouth

Diseases related with Cardiomyopathy and Wide mouth

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Wide mouth that can help you solving undiagnosed cases.


Top matches:

Medium match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Medium match CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3


Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

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 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

Medium 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

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Wide mouth

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cardiomyopathy and Wide mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Muscular hypotonia Hypertension Cryptorchidism Microcephaly Hearing impairment Intellectual disability Long philtrum Prominent forehead Growth delay Short neck Low-set ears Hypoplasia of the corpus callosum Retrognathia Increased serum lactate Strabismus Coarse facial features Wide nasal bridge Ataxia Umbilical hernia Acidosis Hypertonia Lactic acidosis Feeding difficulties Depressed nasal bridge Pulmonic stenosis Frontal bossing Abnormal facial shape Epicanthus Arrhythmia Thick vermilion border Flexion contracture Hepatomegaly Micrognathia

Rare Symptoms - Less than 30% cases


Severe failure to thrive Absent speech Dysphagia Respiratory insufficiency Triangular face Thick eyebrow Intrauterine growth retardation Thick lower lip vermilion Sensorineural hearing impairment Hyperactivity Hypertrichosis Ventricular septal defect Recurrent infections Ventricular hypertrophy Hyperalaninemia Congestive heart failure Oligohydramnios Short stature Hypertelorism 3-Methylglutaconic aciduria Macrocephaly Hyperammonemia Cataract Dilated cardiomyopathy Cardiomegaly Delayed speech and language development Aciduria Abnormal heart morphology Hypospadias Patent ductus arteriosus Short philtrum Nystagmus Intellectual disability, moderate Scoliosis Small for gestational age Flat face Neonatal hypotonia Premature birth Interphalangeal joint contracture of finger Cerebral cortical atrophy Camptodactyly of finger Abnormality of the kidney Encephalopathy Inguinal hernia Respiratory failure Astigmatism Cerebellar atrophy Highly arched eyebrow Myopia Ventriculomegaly Kyphosis Thrombocytopenia Upslanted palpebral fissure Autism High forehead Protruding ear Autistic behavior Smooth philtrum Long face Hip dysplasia Tremor Mitral regurgitation Preauricular skin tag Pointed chin Optic nerve hypoplasia Chronic otitis media Proximal placement of thumb Biparietal narrowing Abnormal hair pattern Increased mean corpuscular volume Colpocephaly Single median maxillary incisor Periventricular gray matter heterotopia Pulmonary arterial hypertension Anxiety Intention tremor Broad hallux phalanx Metaphyseal widening Large for gestational age Flared metaphysis Broad hallux Pericardial effusion Abnormal heart valve morphology Thin ribs Thickened calvaria Short hallux Ovoid vertebral bodies Thick upper lip vermilion Broad ribs Esodeviation Pyloric stenosis Generalized hypertrichosis Deep plantar creases Large sella turcica Curly eyelashes Concentric hypertrophic cardiomyopathy Erlenmeyer flask deformity of the femurs Congenital, generalized hypertrichosis Bilateral coxa valga Cuboid-shaped vertebral bodies Broad first metatarsal Hypoplastic ischiopubic rami Congenital hypertrophy of left ventricle Elevated alkaline phosphatase Prominent supraorbital ridges Microretrognathia Osteopenia Leukoencephalopathy Aplasia/Hypoplasia of the corpus callosum Encephalitis Flat occiput Abnormal aortic valve morphology Moderate global developmental delay Gastroparesis Abnormal pulmonary valve morphology Abnormality of the skeletal system Intellectual disability, mild Delayed skeletal maturation Osteoporosis Skeletal dysplasia Bicuspid aortic valve Finger syndactyly Platyspondyly Narrow chest Short distal phalanx of finger Low posterior hairline Abnormality of the metaphysis Long eyelashes Gingival overgrowth Lymphedema Low anterior hairline Generalized hirsutism Coxa valga Accelerated skeletal maturation Visual impairment Sleep disturbance High palate Polyneuropathy Areflexia Pneumonia Diabetes mellitus Arthritis Abnormality of the nervous system Neurological speech impairment Hypermetropia Abnormality of eye movement Dysmetria Peripheral axonal neuropathy Convex nasal ridge Peripheral neuropathy Hypotelorism Hyperuricemia Arnold-Chiari type I malformation Gout High-frequency hearing impairment Abnormal aortic morphology Hyperuricosuria Increased urinary hypoxanthine Excessive purine production Abnormality of skeletal muscles Renal insufficiency Motor delay Cleft palate Gliosis Ptosis Downslanted palpebral fissures Atrial septal defect Mandibular prognathia Webbed neck Abnormality of the sternum Midface retrusion Deeply set eye Facial asymmetry Bulbous nose Neuronal loss in central nervous system Abnormality of the palpebral fissures Left ventricular noncompaction Pectus excavatum Hyperhidrosis Hyperkeratosis Postnatal growth retardation Nevus Reduced bone mineral density Curly hair Heat intolerance Hyperkeratosis pilaris Uric acid nephrolithiasis Brachydactyly Severe lactic acidosis Ovoid thoracolumbar vertebrae Chronic diarrhea Progressive hearing impairment Drooling Recurrent upper respiratory tract infections Coarse hair Growth abnormality Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Cellular metachromasia Synophrys Abnormality of cardiovascular system morphology Camptodactyly Prominent nasal bridge Metabolic acidosis Renal hypoplasia Aortic valve stenosis Cardiac arrest Spontaneous abortion Severe muscular hypotonia Rocker bottom foot Hirsutism Joint stiffness Hydrocephalus Short chin Hernia Obesity Severe global developmental delay Thin vermilion border Macroglossia Bifid uvula Delayed myelination Dandy-Walker malformation Small nail Left ventricular hypertrophy Lissencephaly Aggressive behavior Failure to thrive in infancy Cutis marmorata Protruding tongue Periorbital fullness Skull asymmetry Dysarthria Diarrhea Behavioral abnormality Splenomegaly Difficulty walking Widened posterior fossa



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Prominent nose, related diseases and genetic alterations Macrocephaly and Arachnodactyly, related diseases and genetic alterations Macrocephaly and Hypothyroidism, related diseases and genetic alterations Lymphoma and Pancytopenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more