Congestive heart failure, and Conductive hearing impairment

Diseases related with Congestive heart failure and Conductive hearing impairment

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


Top matches:

Medium match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16


Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Medium match ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1


Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

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Other less relevant matches:

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Low match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Low match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Low match NAGER SYNDROME


Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Conductive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Ptosis Intellectual disability Respiratory insufficiency Myocardial infarction Cryptorchidism Hypertension Failure to thrive Chest pain Intellectual disability, mild Global developmental delay Cleft palate Seizures Neoplasm Sensorineural hearing impairment Hepatomegaly Glomerulosclerosis Clinodactyly Abnormality of the skeletal system Growth delay

Rare Symptoms - Less than 30% cases


Generalized hypotonia Cardiomyopathy Skeletal dysplasia Hypertelorism Osteopenia Cognitive impairment Micrognathia Gait disturbance Feeding difficulties Cafe-au-lait spot Atrioventricular block Ventricular septal defect Short neck Paroxysmal vertigo Elevated urinary norepinephrine Elevated urinary dopamine Paraganglioma of head and neck Elevated urinary epinephrine Extraadrenal pheochromocytoma Episodic hyperhidrosis Epicanthus Abnormal heart morphology Hernia Hallux valgus Fever Aortic valve stenosis Kyphosis Alopecia Unilateral renal agenesis Respiratory failure Difficulty walking Short thumb Aspiration Facial cleft Widely spaced teeth Radioulnar synostosis Posteriorly rotated ears Hypospadias Congenital diaphragmatic hernia Abnormality of cardiovascular system morphology Delayed speech and language development Strabismus Cleft upper lip Postnatal growth retardation Cleft lip Umbilical hernia Micropenis Panic attack Patent ductus arteriosus Depressivity Hypertension associated with pheochromocytoma Positive regitine blocking test Hypertensive retinopathy Tremor Dysphonia Palpitations Hematuria Nausea Hypertrophic cardiomyopathy Proteinuria Weight loss Pectus carinatum Arrhythmia Urinary incontinence Respiratory distress Abnormality of the cardiovascular system Pneumonia Episodic paroxysmal anxiety Ankylosis Ventricular hypertrophy Hypercalcemia Pallor Mandibular prognathia Aniridia Dilatation Flushing Vocal cord paralysis Recurrent paroxysmal headache Episodic abdominal pain Wormian bones Spontaneous abortion Paraganglioma Adrenal pheochromocytoma Scapular winging Cerebral hemorrhage Sinus tachycardia Pulsatile tinnitus Cranial nerve compression Splenomegaly Gastroesophageal reflux Pulmonic stenosis Abnormality of metabolism/homeostasis Protruding ear Neonatal hypotonia Hypoglycemia Kyphoscoliosis Hyperkeratosis Proximal muscle weakness EEG abnormality Syncope Delayed puberty Triangular face Acidosis Webbed neck Overgrowth Depressed nasal ridge Dyspnea Recurrent respiratory infections Headache Elevated serum creatine phosphokinase Mitral regurgitation Areflexia Abnormality of the genital system Pectus excavatum Limb muscle weakness Myalgia Skeletal muscle atrophy Muscular hypotonia Dysphagia Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Progressive muscle weakness Emphysema Nasal speech Delayed gross motor development Myopathy Atherosclerosis Macular degeneration EMG abnormality Wolff-Parkinson-White syndrome Paralysis Muscular dystrophy Stroke Firm muscles Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Type II diabetes mellitus Pelvic girdle muscle weakness Stroke-like episode Generalized muscle weakness Macroglossia Peripheral demyelination Cardiomegaly Respiratory insufficiency due to muscle weakness Syndactyly Spina bifida occulta Urticaria Non-midline cleft lip Limited elbow extension Aplasia/Hypoplasia of the eyebrow Broad hallux Spastic diplegia Overlapping toe Radial deviation of finger Triphalangeal thumb Atresia of the external auditory canal Aplasia/Hypoplasia of the thumb Hypoplasia of the radius Abnormal palate morphology Short toe Preauricular skin tag Aganglionic megacolon Choanal atresia Split hand Hemiparesis Absent thumb Aplasia/Hypoplasia of the radius Dental malocclusion Foot oligodactyly Sparse lower eyelashes Lower eyelid coloboma Absent toe Short distal phalanx of the thumb Laryngeal hypoplasia Hemifacial hypoplasia Hypoplasia of the epiglottis Velopharyngeal insufficiency Mandibulofacial dysostosis Absent radius Abnormality of the cervical spine Abnormal nasal morphology Gastroschisis Phocomelia Aqueductal stenosis Bicornuate uterus Abnormality of the lower limb Trismus Hypoplasia of the zygomatic bone Tetralogy of Fallot Premature birth Mutism Hyposmia Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Abnormal mitral valve morphology Angina pectoris Numerous nevi Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Bilateral cryptorchidism Cubitus valgus Pterygium Hypoplasia of the ovary Coronary artery aneurysm Hypoplasia of the maxilla Low-set, posteriorly rotated ears Polymicrogyria Toe syndactyly Hip dislocation Prominent nasal bridge Microtia Wide mouth Joint stiffness Camptodactyly Retrognathia Aplasia of the ovary Agenesis of corpus callosum Midface retrusion Ridged cranial sutures Malar flattening Hydrocephalus Talipes equinovarus Downslanted palpebral fissures Brachydactyly Microcephaly Muscle weakness Ectopic ossification in ligament tissue Abnormality of the Eustachian tube Episodic hypertension Abnormality of the pinna Abnormality of the kidney Intellectual disability, moderate Muscular hypotonia of the trunk Telecanthus Edema Abnormal facial shape Renal artery stenosis Blepharophimosis Albuminuria Pheochromocytoma Neoplasm of the endocrine system Raynaud phenomenon Hemangioma Tachycardia Congenital cataract Retinopathy Craniosynostosis Talipes Hyperhidrosis Bifid scrotum Diastasis recti Short 5th finger Bilateral cleft lip Broad foot Irregular vertebral endplates Shawl scrotum Supernumerary nipple Elbow dislocation Oral cleft Epiphyseal dysplasia Preaxial polydactyly Abnormality of the genitourinary system Scrotal hypoplasia Omphalocele Renal agenesis Highly arched eyebrow Small hand Carcinoma Arachnoid hemangiomatosis Bilateral conductive hearing impairment Agenesis of permanent teeth Papule Beaded ribs Fractures of the long bones Dentinogenesis imperfecta Vertebral compression fractures Soft skin Thin ribs Prolonged bleeding time Cyanosis Reduced number of teeth Blue sclerae Recurrent fractures Bruising susceptibility Joint hypermobility Micromelia Small for gestational age Constipation Genu valgum Left ventricular hypertrophy Retinal capillary hemangioma Coronary artery stenosis Elevated calcitonin Renal cell carcinoma Periarticular calcification Coronary artery calcification Generalized arterial calcification Arterial calcification Vascular calcification Angioid streaks of the fundus Growth abnormality Arteriosclerosis Otosclerosis Arterial stenosis Endocardial fibroelastosis Hypophosphatemic rickets Pericardial effusion Hypophosphatemia Rickets Bilateral cleft lip and palate Skin dimples Abnormality of nasopharyngeal adenoids Otitis media Short finger Bowel incontinence Multiple joint contractures Prominent supraorbital ridges Hoarse voice Thickened skin Osteoarthritis Abnormality of the skin Rhinitis Prominent nose Full cheeks Hirsutism Hepatosplenomegaly Coarse facial features Inguinal hernia Frontal bossing Macrocephaly Abnormal heart valve morphology Protuberant abdomen Aplasia/Hypoplasia of the phalanges of the hallux Heparan sulfate excretion in urine Restricted chest movement Incisional hernia Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Obstructive lung disease Papilledema Thenar muscle atrophy Expressive language delay Flared nostrils Mucopolysacchariduria Wrist flexion contracture Thoracolumbar kyphosis Clubbing of fingers Abnormality of the skull Wide nasal bridge Abnormality of the first metatarsal bone Epicanthus inversus Hypotrichosis Metaphyseal widening Back pain Sarcoma Finger clinodactyly Abnormal vertebral morphology Subcutaneous nodule Limitation of joint mobility Respiratory tract infection Hamartoma Glaucoma Clinodactyly of the 5th finger Flexion contracture Anemia Prominent coccyx Urethral valve Caudal appendage Penoscrotal hypospadias Spinal rigidity Basal ganglia calcification Progressive cervical vertebral spine fusion Soft tissue sarcoma Ectopic ossification in tendon tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Low-grade fever Alopecia of scalp Overbite Stiff neck Broad femoral neck Short 1st metacarpal Short hallux Myositis Broad neck Exostoses Hypoplasia of first ribs



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