Cardiomyopathy, and Macrocephaly

Diseases related with Cardiomyopathy and Macrocephaly

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


Top matches:

Low 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

Low match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Low match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

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Other less relevant matches:

Low 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

Low match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Low 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

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Macrocephaly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Pulmonic stenosis Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Webbed neck

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Epicanthus Short neck Abnormal facial shape Posteriorly rotated ears Anteverted nares Relative macrocephaly Polyhydramnios Cognitive impairment Ventricular septal defect Curly hair Generalized hypotonia Leukemia Depressed nasal bridge Cryptorchidism Feeding difficulties Abnormal heart morphology High forehead Myopia Prominent forehead Hyperkeratosis

Rare Symptoms - Less than 30% cases


Strabismus Growth hormone deficiency Vomiting Abnormality of the sternum Hyperpigmentation of the skin Flat face Juvenile myelomonocytic leukemia Abnormal cardiac septum morphology Frontal bossing Edema Coarse facial features Patent ductus arteriosus Mandibular prognathia Dolichocephaly Muscular hypotonia Failure to thrive Seizures Scoliosis Dilatation High palate Wide nasal bridge Peripheral neuropathy Low-set, posteriorly rotated ears Sparse hair Broad forehead Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Elevated serum creatine phosphokinase Hyperactivity Bilateral ptosis Sparse eyebrow Delayed speech and language development Skeletal dysplasia Joint laxity Growth delay Motor delay Nasal speech Slow-growing hair Attention deficit hyperactivity disorder Eczema Sparse scalp hair Long eyelashes Pain Redundant skin Hydrocephalus Megalencephaly Small posterior fossa Loose anagen hair Deep palmar crease Arnold-Chiari type I malformation Hypertension Hypsarrhythmia Generalized tonic seizures Hypoplasia of the corpus callosum Periventricular leukomalacia Severe muscular hypotonia Aortic regurgitation Absence seizures Shock Focal impaired awareness seizure Stridor Turricephaly Increased CSF protein Dilation of lateral ventricles Delayed CNS myelination Cerebral visual impairment Multifocal cerebral white matter abnormalities Involuntary movements Episodic vomiting Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Hepatomegaly Anorexia Myopathy Cholestatic liver disease Hypocalcemia Tachypnea Abnormal electroretinogram Loss of consciousness Chorioretinal atrophy Multiple lipomas Rhabdomyolysis Preeclampsia Recurrent hypoglycemia Hypoketotic hypoglycemia Reduced consciousness/confusion Decreased liver function Decreased plasma carnitine Abnormal left ventricle morphology Hepatic encephalopathy Abnormal chorioretinal morphology Gastrointestinal inflammation Elevated plasma acylcarnitine levels Acute hepatic steatosis Reye syndrome-like episodes Posterior staphyloma Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Abnormality of acid-base homeostasis Sensorimotor neuropathy Abnormality of retinal pigmentation Congestive heart failure Dilated cardiomyopathy Abnormality of metabolism/homeostasis Visual loss Abdominal pain Jaundice Photophobia Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Retinopathy Nyctalopia Nausea Exotropia Hepatic failure Retinal dystrophy Hepatic steatosis Metabolic acidosis Polyneuropathy Coma Hypopigmentation of the skin Brain atrophy Peripheral demyelination Pigmentary retinopathy Focal-onset seizure Epileptic encephalopathy Wormian bones Aciduria Abnormality of coagulation Hypoplastic nasal bridge Atrial septal dilatation Dysplastic pulmonary valve Dental malocclusion Wide intermamillary distance Thick lower lip vermilion Sparse and thin eyebrow Cubitus valgus Bilateral cryptorchidism Prolonged bleeding time Sagittal craniosynostosis Blue irides High anterior hairline Pectus excavatum of inferior sternum Abnormality of the cardiovascular system Ventricular hypertrophy Low posterior hairline Left ventricular hypertrophy Hyperextensible skin Systemic lupus erythematosus Myeloproliferative disorder Scaphocephaly Acute lymphoblastic leukemia Hearing impairment Arrhythmia Wide mouth Thick vermilion border Proptosis Fine hair Hemangioma Absent eyebrow Arthropathy Neuropathic arthropathy Sensorineural hearing impairment Cystic hygroma Intellectual disability, mild Cafe-au-lait spot Broad neck Asymmetry of the thorax Long eyebrows Short nose Pectus excavatum Craniosynostosis Deep philtrum Pterygium Pleural effusion Graves disease Broad nasal tip Behavioral abnormality Increased T3/T4 ratio Microcephaly Micrognathia Muscle weakness Visual impairment Ventriculomegaly Respiratory insufficiency Respiratory distress Blindness Malar flattening Thyroid hormone receptor defect Cerebral atrophy Encephalopathy Myoclonus Brachycephaly Cerebral cortical atrophy Apnea Irritability Protruding ear Lethargy No permanent dentition Long thorax Chylothorax Delayed eruption of teeth Palmoplantar cutis laxa Anemia Talipes equinovarus Delayed skeletal maturation Constipation Hypothyroidism Intellectual disability, moderate Hip dislocation Dry skin Macroglossia Drowsiness Limb undergrowth Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Coxa vara Hypercholesterolemia Congenital hypothyroidism 3-hydroxydicarboxylic aciduria



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