Cardiomyopathy, and Holoprosencephaly

Diseases related with Cardiomyopathy and Holoprosencephaly

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

Top matches:

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

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

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

Related symptoms:

  • Respiratory distress
  • Agenesis of corpus callosum
  • Narrow mouth
  • Polyhydramnios
  • Low-set, posteriorly rotated ears


SOURCES: ORPHANET MENDELIAN

More info about AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

Other less relevant matches:

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Low match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Holoprosencephaly

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Situs inversus totalis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Macrocephaly Respiratory distress Hydrocephalus Atrial septal defect Transposition of the great arteries Microphthalmia Intellectual disability Cataract Polyhydramnios Cerebellar hypoplasia Pulmonic stenosis Cyclopia Anal atresia Hypotelorism Ventricular septal defect Patent ductus arteriosus Muscular hypotonia Encephalocele Short stature Ventriculomegaly Abnormal facial shape Micrognathia Scoliosis

Rare Symptoms - Less than 30% cases

Brachycephaly Ptosis Abnormality of the eye Low-set, posteriorly rotated ears Cognitive impairment Narrow mouth Talipes Thoracic hemivertebrae Postaxial hand polydactyly Sloping forehead Microglossia Anophthalmia Anencephaly Aplasia/Hypoplasia of the corpus callosum Hemivertebrae Preauricular skin tag Brachydactyly Intrauterine growth retardation Downslanted palpebral fissures Anteverted nares Respiratory insufficiency Cryptorchidism Hearing impairment Mandibular aplasia Single ventricle Median cleft lip and palate Single median maxillary incisor Microcornea Cleft lip Constipation Midface retrusion Malar flattening Anterior pituitary agenesis Depressed nasal bridge Asplenia Synotia Oligohydramnios Hypertelorism Proboscis Alobar holoprosencephaly Intestinal malrotation Hypoplasia of the maxilla Pulmonary hypoplasia Abnormal heart morphology Low-set ears Optic atrophy Dilatation Chronic constipation Semilobar holoprosencephaly Strabismus EEG abnormality Recurrent respiratory infections Respiratory tract infection Coloboma Full cheeks Generalized hypotonia Short femur Maternal diabetes Abnormality of tibia morphology Abnormal cortical bone morphology Hypoplastic ilia Diastolic heart murmur Aplasia/Hypoplasia of the lungs Occipital encephalocele Small face Short thorax Flared metaphysis Abnormality of neuronal migration Meningocele Severe short-limb dwarfism Cloverleaf skull Small foramen magnum Back pain Wide-cupped costochondral junctions Tracheoesophageal fistula Small abnormally formed scapulae Anterior sacral meningocele Hyperostosis Lethal short-limbed short stature Increased nuchal translucency Short sacroiliac notch Joint swelling Syringomyelia Lipoma Abnormality of the knee Abnormality of the skull Neurogenic bladder Urinary retention Metaphyseal irregularity Clubbing of toes Proptosis Severe short stature Lower limb undergrowth Kyphosis Frontal bossing Mottled pigmentation Aplasia of the nose Abnormality of the kidney Absent nasal septal cartilage Absence of the sacrum Rectal abscess Hypoplastic philtrum Exstrophy Dermoid cyst Skeletal dysplasia Platyspondyly Abnormality of the genitourinary system Bladder exstrophy Presacral teratoma Deviation of finger Teratoma Redundant skin Disproportionate short-limb short stature Acanthosis nigricans Short ribs Narrow chest Abnormality of the metaphysis Decreased fetal movement Limitation of joint mobility Flat face Micromelia Joint hyperflexibility Spinal deformities Abnormality of cardiovascular system morphology Type I diabetes mellitus Spina bifida occulta Heart murmur Bilateral cleft lip and palate Skin tags Bilateral cleft lip Median cleft lip Partial agenesis of the corpus callosum Neurodevelopmental delay Patent foramen ovale Large forehead Cloacal exstrophy Optic nerve hypoplasia Coarctation of aorta Growth hormone deficiency Dental malocclusion Postaxial polydactyly Abnormal cortical gyration Panhypopituitarism Adrenal hypoplasia Short hard palate Asymmetric ventricles Diabetes mellitus Rectal fistula Arthralgia Arthritis Agenesis of incisor Joint stiffness Anterior pituitary hypoplasia Single naris Underdeveloped tragus Hypoplasia of the premaxilla Sacral meningocele Sacral lipoma Prominent antihelix Wide cranial sutures Oral cleft Microtia Headache Bowing of the long bones Eczema Postaxial foot polydactyly Male pseudohermaphroditism Preaxial hand polydactyly Osteoarthritis Multicystic kidney dysplasia Depressed nasal ridge Furrowed tongue Ambiguous genitalia Omphalocele Large fontanelles Dandy-Walker malformation Spina bifida Meningitis Sclerocornea Hemisacrum Urinary incontinence True hermaphroditism Short philtrum Macrotia Micropenis Polydactyly Cystic liver disease Lobar holoprosencephaly Sirenomelia Congenital hepatic fibrosis Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Pancreatic cysts Ureteral duplication Pancreatic fibrosis Failure to thrive Submucous cleft hard palate Myopia Areflexia Pectus excavatum Myopathy Intellectual disability, severe Gait disturbance Skeletal muscle atrophy Motor delay Glaucoma Visual impairment Delayed speech and language development Flexion contracture Muscle weakness Skull asymmetry Curly eyelashes Limited elbow movement Elevated serum creatine phosphokinase Rigidity Enlarged cisterna magna Arthrogryposis multiplex congenita Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Polymicrogyria Congenital cataract Hypermetropia Abnormality of the cerebral white matter Neonatal hypotonia Dolichocephaly Dilated cardiomyopathy Muscular dystrophy Hip dislocation Camptodactyly of finger Abnormality of the pinna Apnea Hemihypertrophy Prominent metopic ridge Cerebellar vermis hypoplasia Thin upper lip vermilion Poor speech Synophrys Prominent nasal bridge Sparse hair Hypertrophic cardiomyopathy Deeply set eye Gastroesophageal reflux Thick eyebrow Clinodactyly Absent speech Short neck Feeding difficulties High palate Spasticity Growth delay Smooth philtrum Hirsutism Cutis marmorata Ventricular hypertrophy Proximal placement of thumb Widely spaced teeth Aortic regurgitation Low anterior hairline Long eyelashes Decreased body weight Mitral regurgitation Mitral valve prolapse Downturned corners of mouth Narrow forehead Wide intermamillary distance Febrile seizures Esotropia Short foot Highly arched eyebrow Small hand Brain atrophy Pachygyria Narrow nasal bridge Aglossia Ciliary dyskinesia Dextrocardia Cardiomegaly Renal agenesis Dyskinesia Arrhythmia Laryngeal hypoplasia Double outlet right ventricle Hypoplasia of the epiglottis Hyperplasia of the maxilla Stenosis of the external auditory canal Tracheomalacia Atresia of the external auditory canal Abnormality of the outer ear Conductive hearing impairment Abnormal lung lobation Myelomeningocele Posteriorly rotated ears Dextrotransposition of the great arteries Diabetes insipidus Exotropia Bifid uvula Astigmatism Short nose Nystagmus Posteriorly placed anus Mitral atresia Polysplenia Pulmonary artery hypoplasia Common atrium Biliary atresia Heterotaxy Abdominal situs inversus Pulmonary artery atresia Duodenal atresia Retrognathia Talipes equinovarus Bradycardia Skeletal muscle hypertrophy Spinal rigidity Cortical dysplasia Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Mask-like facies Atrophy/Degeneration affecting the brainstem Hypoplasia of the brainstem Congenital muscular dystrophy Plagiocephaly Lissencephaly Knee flexion contracture EMG abnormality Congenital hip dislocation Weak cry Ankle contracture Absent nares Cephalocele Narrow internal auditory canal Aplasia/Hypoplasia involving the nose Abnormal cranial nerve morphology Aplasia/Hypoplasia of the eyebrow Aplasia/Hypoplasia of the cerebellum Hypoplasia of penis Hypoplasia of the pyramidal tract Hypoglycosylation of alpha-dystroglycan Retinal dysplasia Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Myocardial fibrosis Hydromyelia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Growth hormone deficiency, related diseases and genetic alterations Fever and Retinal dystrophy, related diseases and genetic alterations Wide nasal bridge and Dolichocephaly, related diseases and genetic alterations Myopathy and Hip dislocation, related diseases and genetic alterations Flexion contracture and Gait disturbance, related diseases and genetic alterations Cryptorchidism and Nephrotic syndrome, related diseases and genetic alterations