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:
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
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
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Other less relevant matches:
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
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
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
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
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
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
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
|
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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
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