Cardiomyopathy, and Coloboma

Diseases related with Cardiomyopathy and Coloboma

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


Top matches:

Low match CORNELIA DE LANGE SYNDROME 2; CDLS2


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

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Low match DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3


Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Pain
  • Coloboma
  • Pruritus
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10


Related symptoms:

  • Seizures
  • Global developmental delay
  • Atrial septal defect
  • Microphthalmia
  • Coloboma


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10

Low match MICROPHTHALMIA, ISOLATED 8; MCOP8


Related symptoms:

  • Atrial septal defect
  • Microphthalmia
  • Autism
  • Coloboma
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 8; MCOP8

Low match CATARACT 21, MULTIPLE TYPES; CTRCT21


Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4|cataract, pulverulent, juvenile-onset|cca4|cataract 21, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia
  • Autism


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Coloboma

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Micrognathia Short stature Growth delay Microcephaly Cataract Synophrys Scoliosis Gastroesophageal reflux Failure to thrive Sensorineural hearing impairment Autism Hearing impairment Iris coloboma Feeding difficulties High palate Ventricular septal defect Wide nasal bridge Mitral regurgitation Hernia Clinodactyly of the 5th finger Mitral valve prolapse Delayed speech and language development Mandibular prognathia Low anterior hairline Long eyelashes Hiatus hernia Retrognathia Anophthalmia Small for gestational age Highly arched eyebrow Hydrocephalus Microcornea Hypertelorism Generalized hypotonia Small hand Nystagmus Cleft palate Ptosis Behavioral abnormality Intrauterine growth retardation Downslanted palpebral fissures Retinal detachment Anteverted nares Abnormality of the skeletal system Optic atrophy Clinodactyly Myopia Brachycephaly Thin upper lip vermilion Hypospadias Prominent nasal bridge Strabismus Depressed nasal bridge Thick eyebrow Hypertrophic cardiomyopathy Respiratory tract infection Cryptorchidism

Rare Symptoms - Less than 30% cases


Delayed skeletal maturation Abnormality of the gastrointestinal tract Congenital diaphragmatic hernia Bifid uvula Prominent forehead Failure to thrive in infancy Intellectual disability, progressive Abnormality of retinal pigmentation Astigmatism Dysphasia Tricuspid regurgitation Narrow mouth Long philtrum Sacral dimple Patent foramen ovale Clitoral hypertrophy Postnatal growth retardation Optic nerve coloboma Abnormality of the anus Malar flattening Kyphosis Obesity Macrocephaly Hypertrichosis Visual impairment Muscular hypotonia Orbital cyst Chorioretinal dysplasia Hypothyroidism Neonatal hypotonia Feeding difficulties in infancy Neurological speech impairment High, narrow palate Weak cry Periventricular leukomalacia Colpocephaly Abnormality of the testis Ocular albinism Neoplasm Low-set ears Volvulus Anteriorly placed anus Absent septum pellucidum Pigmentary retinopathy Dilated cardiomyopathy Hypopigmentation of the skin Short foot Self-injurious behavior Curly eyelashes Pyloric stenosis Retinal dystrophy Cutis marmorata Proximal placement of thumb Widely spaced teeth Decreased body weight Ventricular hypertrophy Narrow forehead Renal cyst Otitis media Downturned corners of mouth Blindness Hirsutism Smooth philtrum Poor speech Deeply set eye EEG abnormality High myopia Absent speech Dilatation Short neck Ventriculomegaly Brachydactyly Cognitive impairment Respiratory distress Cleft upper lip Syndactyly Thrombocytopenia Hypogonadism Glaucoma Short metatarsal Micropenis Autistic behavior Single transverse palmar crease Abnormal cardiac septum morphology Agenesis of corpus callosum Abnormality of the pinna Camptodactyly Tapered finger Aggressive behavior Abnormality of skin pigmentation Conductive hearing impairment Abnormality of cardiovascular system morphology Severe short stature Blepharophimosis Abnormal heart morphology Midface retrusion Pulmonic stenosis Visual loss Abnormality of the liver Abnormality of the kidney Abnormality of the eye Joint stiffness Hypoplasia of penis Hepatic steatosis Delayed myelination Tetralogy of Fallot Camptodactyly of finger Microtia Brain atrophy Optic disc pallor Polymicrogyria Oral cleft Hydronephrosis Pes cavus Hip dysplasia Cerebral cortical atrophy Epileptic encephalopathy Hypermetropia Upslanted palpebral fissure Posteriorly rotated ears Low-set, posteriorly rotated ears Abnormal blistering of the skin Abnormality of the cerebral white matter Abnormality of the skin Intestinal malrotation Constipation Patent ductus arteriosus Cerebral atrophy Myopathy Hypoplasia of the corpus callosum Poor appetite Dysphagia Short middle phalanx of finger Aspiration pneumonia Abnormality of the ribs Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Clubbing Hypoplastic labia majora Deep philtrum Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Aspiration Recurrent urinary tract infections Esophagitis Thick upper lip vermilion Frontal bossing Left-to-right shunt Gait disturbance Epicanthus Muscle weakness Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Hypertropia Recurrent hypoglycemia Esophageal stenosis Hypoplastic male external genitalia Absent hand Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Coarctation of aorta Submucous cleft hard palate Hypsarrhythmia Gastric ulcer Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Abnormality of the mandible Noncompaction cardiomyopathy Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Thickened helices Rib fusion Delayed closure of the anterior fontanelle Cranial nerve VI palsy Asymmetry of the ears Left ventricular noncompaction Solitary renal cyst Cerulean cataract Macular hypoplasia Congenital cataract Entropion Optic nerve hypoplasia Microcoria Chorioretinal coloboma Neoplasm of the skin Pruritus Pain Agenesis of the anterior commissure Abnormality of the renal pelvis Oppositional defiant disorder Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Abnormality of the spleen Redundant neck skin Interphalangeal joint contracture of finger Abnormal intestine morphology Congenital sensorineural hearing impairment Hand polydactyly Abnormality of vision Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Spastic tetraparesis Metatarsus adductus Narrow palpebral fissure Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Heterotopia Pachygyria Depressed nasal ridge Tetraparesis Hemiplegia/hemiparesis Delayed cranial suture closure Delayed CNS myelination Abnormal lung lobation Dilation of lateral ventricles 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Missing ribs Short 5th finger Coronal craniosynostosis Abnormal eyebrow morphology Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Foot polydactyly Hypermelanotic macule Spinal canal stenosis Aortic root aneurysm Congenital hypothyroidism Neuroblastoma Slender long bone Telangiectasia of the skin Abnormality of the immune system Abnormal heart valve morphology Infantile spasms High hypermetropia Macule Polyphagia Choanal atresia Macular edema Low posterior hairline Arteria lusoria Edema Motor delay Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Abnormal vitreous humor morphology Abnormality of the fallopian tube Functional motor deficit Pectus excavatum Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Supraventricular tachycardia Recurrent infections Cerebellar hypoplasia Retinal dysplasia Nyctalopia Joint hypermobility Retinal degeneration Arachnodactyly Joint hyperflexibility Genu valgum Delayed puberty Severe global developmental delay Finger syndactyly Short philtrum Stroke Retinopathy Rod-cone dystrophy Wide mouth Paralysis Protruding ear Intellectual disability, moderate Joint laxity Arthritis Pes planus Kyphoscoliosis Macrotia Reduced visual acuity Diabetes mellitus Echolalia Abnormal eyelid morphology Neutropenia Limited elbow movement Nail dystrophy Corneal opacity Skin rash Erythema Dyspnea Respiratory failure Arrhythmia Abnormality of metabolism/homeostasis Skull asymmetry Semilobar holoprosencephaly Hemihypertrophy Tachycardia Enlarged cisterna magna Prominent metopic ridge Aortic regurgitation Holoprosencephaly Wide intermamillary distance Febrile seizures Esotropia Full cheeks Sparse hair Recurrent respiratory infections Spasticity Anal atresia Wide nose Sclerocornea Albinism Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Aplasia/Hypoplasia of the skin Abnormality of the ear Congenital glaucoma Hypoplasia of the uterus Aphasia Preauricular pit Specific learning disability Ventricular fibrillation Dermal atrophy Mutism Hypopigmented skin patches Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Amblyopia Status epilepticus Ambiguous genitalia Thick vermilion border Hypoplasia of the maxilla Renal hypoplasia Macrodontia of permanent maxillary central incisor Vomiting Intellectual disability, severe Talipes equinovarus Fever Hypertension Anemia Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Prominent eyelashes Hypertonia Thick corpus callosum High-pitched cry Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Abnormality of the dentition Headache Bull's eye maculopathy Vertigo Blue sclerae Microdontia Webbed neck Vesicoureteral reflux Sepsis Triangular face Delayed eruption of teeth Sleep disturbance Pulmonary hypoplasia Thin vermilion border Micromelia Inguinal hernia Toe syndactyly Hip dislocation Craniosynostosis Pallor Telecanthus Proteinuria Hypoglycemia Proptosis Hyperactivity Hyperhidrosis Pneumonia Granulocytopenia Macrodontia Short metacarpal Progressive microcephaly Intracranial hemorrhage Radioulnar synostosis Precocious puberty Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Preauricular skin tag Gingival overgrowth Cubitus valgus Exotropia Tall stature Clumsiness Open mouth Lumbar hyperlordosis Decreased fetal movement Progressive visual loss Convex nasal ridge Aciduria Growth hormone deficiency Prominent nose Rheumatoid arthritis Constriction of peripheral visual field Iris atrophy Vocal cord paralysis Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Microglossia Abnormality of dental morphology Gingivitis Posterior subcapsular cataract Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Celiac disease Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Cortical pulverulent cataract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Postaxial polydactyly, related diseases and genetic alterations Neuroblastoma and Sparse and thin eyebrow, related diseases and genetic alterations Congestive heart failure and Hemolytic anemia, related diseases and genetic alterations Obesity and Long philtrum, related diseases and genetic alterations

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