Congestive heart failure, and Coloboma

Diseases related with Congestive heart failure and Coloboma

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


Top matches:

Low match WARSAW BREAKAGE SYNDROME


A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Low match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Low match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

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Other less relevant matches:

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN 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 GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

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 COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Top 5 symptoms//phenotypes associated to Congestive heart failure and Coloboma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autism Ventricular septal defect Atrial septal defect Generalized hypotonia Ventriculomegaly Macrocephaly Intellectual disability, mild Low-set ears Short toe Ptosis Hypertelorism Iris coloboma Attention deficit hyperactivity disorder Feeding difficulties Dilatation Behavioral abnormality Optic atrophy Cognitive impairment Micrognathia Abnormal facial shape Microcephaly Short nose Short neck Growth delay Strabismus Hearing impairment Smooth philtrum Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Hydronephrosis Pes planus Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Long philtrum Bilateral sensorineural hearing impairment Intellectual disability, moderate Frontal bossing Downslanted palpebral fissures Epicanthus Myopia Brachydactyly Depressed nasal bridge Visual impairment Spasticity Cataract Telecanthus Facial asymmetry Hip dislocation Wide nasal bridge Hand polydactyly Pyloric stenosis Missing ribs Talipes Inguinal hernia Hernia Recurrent infections Immunodeficiency Anteverted nares Cryptorchidism Dolichocephaly Muscular hypotonia Scoliosis Feeding difficulties in infancy Unilateral renal agenesis Chorioretinal coloboma Abnormal palate morphology Aortic regurgitation Renal agenesis Microcornea Short stature Syndactyly Talipes equinovarus Anophthalmia Hypothyroidism Multiple renal cysts Neoplasm Single transverse palmar crease Respiratory insufficiency Arrhythmia Motor delay Aplasia/Hypoplasia of the corpus callosum Wide mouth Optic nerve coloboma Postnatal growth retardation EEG abnormality Clinodactyly Renal cyst Tachycardia Craniosynostosis Decreased antibody level in blood Intestinal malrotation Premature birth Hypoglycemia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Camptodactyly Pruritus Abnormal cardiac septum morphology Anal atresia Skin rash Finger syndactyly Leukemia Small for gestational age Neurological speech impairment Postural instability Abnormality of the curvature of the vertebral column Bruising susceptibility Pain Narrow chest Toe syndactyly Acidosis Thin upper lip vermilion Hydrocele testis Flexion contracture Failure to thrive Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Pulmonic stenosis Abnormality of the dentition Severe intrauterine growth retardation Arnold-Chiari type I malformation Retinal detachment Severe combined immunodeficiency Optic nerve hypoplasia Syringomyelia Hydrocephalus Cerebral atrophy Retrognathia Truncus arteriosus Osteopenia Cardiomyopathy Hypopigmentation of the skin High forehead Neoplasm of the skin Hypogonadism Osteoporosis Abnormality of cardiovascular system morphology Prominent forehead Recurrent respiratory infections Constipation Pectus excavatum Hypospadias Thrombocytopenia Webbed neck Duodenal atresia Growth hormone deficiency Multicystic kidney dysplasia Trigonocephaly Schizophrenia Infantile muscular hypotonia Tachypnea Azoospermia Holoprosencephaly Horseshoe kidney Heart murmur Bone marrow hypocellularity Spina bifida Ectopic anus Mitral stenosis Aortic valve stenosis Long nose Ectropion Hammertoe Nuclear cataract Wheezing Chronic constipation Retinal dysplasia Diastasis recti Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Transposition of the great arteries Flat occiput Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Broad hallux phalanx Aplasia/Hypoplasia of the earlobes Otitis media Bilateral camptodactyly Abnormality of the anus Pachygyria Abnormal form of the vertebral bodies Annular pancreas Internal hemorrhage Arteria lusoria Pancytopenia Giant platelets Coarctation of aorta Congenital thrombocytopenia Eczema Dehydration Microdontia Eyelid coloboma Toe clinodactyly Amblyopia Labial hypoplasia Leukodystrophy Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux Urethral stenosis Entropion Macular hypoplasia Lactic acidosis Sinusitis U-Shaped upper lip vermilion Short thumb Central hypothyroidism Clitoral hypoplasia Megakaryocyte dysplasia Scleral staphyloma Combined immunodeficiency Adenoma sebaceum Nevus flammeus Neoplasm of the pancreas Gingivitis Skin tags Abnormality of the respiratory system Wolff-Parkinson-White syndrome Abnormality of the pancreas Astrocytoma Gingival fibromatosis Pneumothorax Rhabdomyosarcoma Abnormality of the pleura Chylothorax Third degree atrioventricular block Hamartoma Ependymoma Shagreen patch Macrodactyly Optic nerve glioma Renal angiomyolipoma Angiofibromas Retinal hamartoma Chordoma Cortical tubers Subependymal nodules Cardiac rhabdomyoma Hypomelanotic macule Dental enamel pits Ungual fibroma Renal cell carcinoma Multiple cafe-au-lait spots Pulmonary lymphangiomyomatosis Papule High palate Abnormality of skin pigmentation Tetralogy of Fallot Sloping forehead Cupped ear Cutis marmorata 2-3 toe syndactyly Chromosome breakage Small face Premature chromatid separation Hypoplasia of the cochlea Renal insufficiency Anxiety Abnormality of the liver Specific learning disability Infantile spasms Cerebral calcification Generalized-onset seizure Subcutaneous nodule Cafe-au-lait spot Bradycardia Hypopigmented skin patches Increased intracranial pressure Atrioventricular block Precocious puberty Abnormality of neuronal migration Emphysema Prominent occiput Cortical dysplasia Macule Confetti-like hypopigmented macules Achromatic retinal patches Language impairment Deeply set eye Short 2nd toe Posterior staphyloma Cleft palate Delayed speech and language development Hypertension Malar flattening Midface retrusion Obesity Posteriorly rotated ears Hyperactivity Polydactyly Micropenis Gastroesophageal reflux Macrotia Abnormality of the pinna Lens luxation Autistic behavior Blepharophimosis Broad forehead Flat face Small hand Tapered finger Underdeveloped nasal alae Congenital diaphragmatic hernia Psychosis Pointed chin Hemivertebrae Narrow palpebral fissure Microretrognathia Bilateral ptosis Lop ear Short upper lip Subungual fibromas Prominent nose Rhabdomyoma Subependymal giant-cell astrocytoma Nystagmus Abnormality of the skeletal system Hypoplasia of the corpus callosum Intellectual disability, severe Absent speech Gait ataxia Coarse facial features Mental deterioration Corneal opacity Joint hyperflexibility Long face Highly arched eyebrow Esotropia Colpocephaly Convex nasal ridge Progressive visual loss Intellectual disability, profound Thick lower lip vermilion Dental crowding Short chin Genu varum Relative macrocephaly Aortic aneurysm Bowing of the legs Congenital nystagmus Neurogenic bladder Hypoplasia of teeth Profound global developmental delay Increased serum lactate



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