Cardiomyopathy, and Dolichocephaly

Diseases related with Cardiomyopathy and Dolichocephaly

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


Top matches:

Medium match LEOPARD SYNDROME 2; LPRD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

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

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Other less relevant matches:

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Medium match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Medium match INFANTILE REFSUM DISEASE


Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Medium match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Dolichocephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Hypertelorism Abnormal facial shape Hepatomegaly Generalized hypotonia Muscular hypotonia Visual impairment Retinopathy Scaphocephaly Growth delay Micrognathia Ventriculomegaly Wide nasal bridge Intrauterine growth retardation Behavioral abnormality Malar flattening Hypertrichosis Hepatosplenomegaly Rod-cone dystrophy Coarse facial features Apnea Diarrhea Motor delay Failure to thrive Hearing impairment Severe short stature Depressed nasal bridge Epicanthus Strabismus Cognitive impairment Anteverted nares High palate Frontal bossing

Rare Symptoms - Less than 30% cases


Growth abnormality High pitched voice Heparan sulfate excretion in urine Dysostosis multiplex Pulmonary fibrosis Congenital cataract Pigmentary retinopathy Abnormality of the cerebral white matter Congestive heart failure Respiratory tract infection Neonatal hypotonia Umbilical hernia Hydrocephalus Splenomegaly Optic atrophy Cataract Flexion contracture Skeletal muscle atrophy Decreased antibody level in blood Abnormality of the face Dilated cardiomyopathy Neoplasm Postnatal growth retardation Myocardial fibrosis Reduced tendon reflexes Infertility Cirrhosis Aortic regurgitation Triangular face Broad forehead Type II diabetes mellitus Clinodactyly of the 5th finger Elevated serum creatine phosphokinase Arrhythmia Ichthyosis Depressivity Syndactyly Scoliosis Diabetes mellitus Specific learning disability Delayed speech and language development Short nose Muscle weakness Pulmonic stenosis Thick lower lip vermilion Cafe-au-lait spot Respiratory insufficiency Brachycephaly Protruding ear Hyperactivity Microcephaly Ptosis Atrial septal defect Webbed neck Leukemia Pectus excavatum Broad nasal tip Feeding difficulties Hypertrophic cardiomyopathy Respiratory distress Mandibular prognathia Short neck Downslanted palpebral fissures Obstructive sleep apnea Mask-like facies Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Spinal rigidity Hypoplasia of the brainstem Myelopathy Congenital muscular dystrophy Cortical dysplasia Delayed eruption of teeth Papilledema Agyria Spasticity Sensorineural hearing impairment Nystagmus Ataxia Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Abnormal heart valve morphology Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Retinal dysplasia Ankle contracture Anencephaly Weak cry Transposition of the great arteries Atrophy/Degeneration affecting the brainstem Intestinal pseudo-obstruction Aplasia/Hypoplasia of the corpus callosum EEG abnormality Arthrogryposis multiplex congenita Muscular dystrophy Hip dislocation Camptodactyly of finger Abnormality of the pinna Retinoschisis Rigidity Glaucoma Tracheobronchomalacia Agenesis of corpus callosum Cerebellar hypoplasia Areflexia Dilatation Microphthalmia Myopathy Intellectual disability, severe Gait disturbance Hypermetropia Polymicrogyria Plagiocephaly Congenital hip dislocation Lissencephaly Holoprosencephaly Absent speech Retinal fold Knee flexion contracture Hemivertebrae EMG abnormality Urinary glycosaminoglycan excretion Cervical cord compression Retinal detachment Bradycardia Preauricular skin tag Pachygyria Encephalocele Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Midface retrusion Mild short stature Osteoporosis Spastic tetraplegia Pointed chin Increased body weight Postural instability Tetraplegia Insulin resistance Macroglossia Asthma Dental crowding Epidermal acanthosis Cachexia Intellectual disability, profound Tetraparesis Overgrowth Cyanosis Growth hormone deficiency Nevus Progressive neurologic deterioration Recurrent otitis media Abdominal distention Acanthosis nigricans Premature ovarian insufficiency Hypodontia Hypoplastic frontal sinuses Corneal opacity Attention deficit hyperactivity disorder Osteopenia Pes cavus Inguinal hernia Kyphosis Pericardial constriction Constrictive pericarditis J-shaped sella turcica Nephroblastoma Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Insulin-resistant diabetes mellitus Pericarditis Slender long bone Ascites Astigmatism Acidosis Large fontanelles Leukodystrophy Hepatic fibrosis Widely spaced teeth Progressive muscle weakness Rhizomelia Abnormality of epiphysis morphology Nephrolithiasis Corneal dystrophy Convex nasal ridge Impulsivity Esotropia Renal cyst Sleep apnea Nyctalopia Incoordination Facial palsy Neurodegeneration Jaundice High forehead Spinal muscular atrophy Constriction of peripheral visual field Split hand Hoarse voice Delayed puberty Small for gestational age Abnormality of retinal pigmentation Abnormality of the nervous system Hypogonadism Edema Hypoplasia of the corpus callosum Dysarthria Elbow flexion contracture Severe hearing impairment Exercise intolerance Elevated levels of phytanic acid Very long chain fatty acid accumulation Progressive spinal muscular atrophy Intellectual disability, progressive Spastic tetraparesis Hyperoxaluria Hypocholesterolemia Epiphyseal stippling Intellectual disability, moderate Lymphoma Myopia Subependymal cysts Hirsutism Synophrys Joint stiffness Kyphoscoliosis Hernia Dysphagia Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Cardiogenic shock Sleep disturbance Glutaric aciduria Infantile encephalopathy Anteverted ears Narrow naris Inspiratory stridor Generalized tonic seizures Episodic vomiting Periventricular leukomalacia Everted lower lip vermilion Coarse hair Dilation of lateral ventricles Clinodactyly Short palm Bulbous nose Thin vermilion border Limb muscle weakness Toe syndactyly Joint laxity Thin upper lip vermilion Retrognathia Brachydactyly Recurrent upper respiratory tract infections Cleft palate Cellular metachromasia Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Asymmetric septal hypertrophy Motor deterioration Loss of speech Restlessness Delayed CNS myelination Increased CSF protein High, narrow palate Mitral valve prolapse Atrial septal dilatation Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Cystic hygroma Pterygium Deep philtrum Craniosynostosis Blindness Polyhydramnios Posteriorly rotated ears Patent ductus arteriosus Ventricular septal defect Multiple lentigines Curly hair Abnormality of the sternum Cubitus valgus Dry skin Dysplastic pulmonary valve Vomiting Turricephaly Epileptic encephalopathy Stridor Focal impaired awareness seizure Shock Severe muscular hypotonia Absence seizures Cerebral visual impairment Involuntary movements Hypsarrhythmia Focal-onset seizure Cerebral atrophy Aciduria Flat face Lethargy Irritability Skeletal dysplasia Cerebral cortical atrophy Prominent forehead Myoclonus Encephalopathy Wide nose Small hand Facial telangiectasia in butterfly midface distribution Cutaneous photosensitivity Reduced number of teeth Hypopigmented skin patches Sacral dimple Azoospermia Narrow face Sinusitis Telangiectasia Bronchiectasis Otitis media Squamous cell carcinoma Abnormality of the skin Prominent nose Finger syndactyly Skin rash Erythema Polydactyly Hyperhidrosis Recurrent respiratory infections Pneumonia Hand polydactyly Telangiectasia of the skin Recurrent infections Abnormality of the nose Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females Abnormality of chromosome stability IgM deficiency Chronic obstructive pulmonary disease Myeloid leukemia Chronic lung disease Hypoplastic pelvis Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma IgA deficiency Acute myeloid leukemia Delayed skeletal maturation Immunodeficiency Hypoplasia of the maxilla Ventricular tachycardia Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Short metatarsal Ventricular arrhythmia Oligodontia Abnormal palate morphology Scapular winging Ventricular extrasystoles Bilateral single transverse palmar creases Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Palpitations Febrile seizures Short metacarpal Syncope Sudden cardiac death Short finger Left bundle branch block Intellectual disability, mild Effort-induced polymorphic ventricular tachycardias Abnormality of the dentition Anemia Cryptorchidism Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Periodic hypokalemic paresis T-wave inversion Short mandibular rami Short digit Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes Dermatan sulfate excretion in urine



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Dental crowding, related diseases and genetic alterations Macrocephaly and Broad forehead, related diseases and genetic alterations Tremor and Encephalitis, related diseases and genetic alterations Myopathy and Abnormal cardiac septum morphology, related diseases and genetic alterations

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