Congestive heart failure, and Clinodactyly

Diseases related with Congestive heart failure and Clinodactyly

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Clinodactyly 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 TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

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Other less relevant matches:

Low match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

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 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

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 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

Low match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

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

Symptoms // Phenotype % cases
Clinodactyly of the 5th finger Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Ptosis Low-set ears Scoliosis Short stature Abnormal facial shape Strabismus Blepharophimosis Wide nasal bridge Micrognathia Cleft palate Patent ductus arteriosus Broad forehead Epicanthus Sensorineural hearing impairment Abnormality of cardiovascular system morphology Abnormal heart morphology Seizures Abnormality of the skeletal system Downslanted palpebral fissures Myopia Intellectual disability, mild Long philtrum Malar flattening Craniosynostosis Highly arched eyebrow Brachydactyly Small hand Respiratory distress Joint hyperflexibility Short neck Growth delay Short nose Syndactyly Cryptorchidism Generalized hypotonia High palate

Rare Symptoms - Less than 30% cases


Broad foot Shawl scrotum Hyperextensible skin Hypoplasia of the maxilla Talipes Delayed eruption of teeth Short foot Short palm Oral cleft Cleft upper lip Anemia Short chin Hypertension Umbilical hernia Inguinal hernia Pectus excavatum Abnormality of the dentition Cognitive impairment Postnatal growth retardation Persistence of primary teeth Supernumerary nipple Bicuspid aortic valve Finger clinodactyly Pes planus Dilatation Macrocephaly Depressivity Triangular face Pain Fever Alopecia Microcephaly Talipes equinovarus Flexion contracture Renal agenesis Intellectual disability, moderate Telecanthus Conductive hearing impairment Keratoglobus Everted lower lip vermilion Keratoconus Aortic aneurysm Cardiac arrest Myocardial infarction Short palpebral fissure Specific learning disability Long face Arachnodactyly Gait ataxia Hip dislocation Intrauterine growth retardation Respiratory failure Coarctation of aorta Facial asymmetry Preauricular pit Tetralogy of Fallot Anteverted nares Single transverse palmar crease Abnormality of skin pigmentation Bilateral sensorineural hearing impairment Depressed nasal bridge Paralysis Muscle weakness Arrhythmia Dolichocephaly Dyspnea 2-3 toe syndactyly Pulmonic stenosis Coloboma Toe syndactyly Respiratory tract infection Protruding ear Spinal rigidity Alopecia of scalp Ankylosis Hallux valgus Basal ganglia calcification Metaphyseal widening Broad neck Back pain Sarcoma Widely spaced teeth Aspiration Hamartoma Exostoses Ataxia Myositis Synostosis of joints Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Slender long bone Osteochondroma Soft tissue sarcoma Short thumb Low-grade fever Overbite Stiff neck Periodic hypokalemic paresis Abnormal heart valve morphology Broad femoral neck Short 1st metacarpal Short hallux Abnormal vertebral morphology Kyphosis Subcutaneous nodule Tapetoretinal degeneration Congenital finger flexion contractures Round ear Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Abnormality of the rib cage Limited wrist extension Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the sternum Tarsal synostosis Absent phalangeal crease Amyoplasia Limitation of joint mobility Scaphocephaly Hypotrichosis Difficulty walking Glaucoma Pneumonia Progressive cervical vertebral spine fusion Respiratory insufficiency Hyperthyroidism Clinodactyly of the 5th toe Decreased facial expression Toe clinodactyly Delayed eruption of permanent teeth Failure to thrive Neoplasm Periodic paralysis Internally rotated shoulders Exophoria Firm muscles Ectopic ossification in tendon tissue Optic atrophy Abnormality of the first metatarsal bone Vertebral segmentation defect Bidirectional ventricular ectopy Aortic regurgitation Antegonial notching of mandible Periodic hyperkalemic paralysis Short toe Dental crowding Thick lower lip vermilion Short mandibular rami Aplasia/Hypoplasia of the corpus callosum Tachycardia Bulbous nose Inability to walk Syncope Short metacarpal Renal hypoplasia Intellectual disability, profound Tetraparesis Abnormal palate morphology Genu varum Palpitations Colpocephaly Prominent frontal sinuses Short 2nd toe Scleral staphyloma Lop ear Lens luxation Delayed skeletal maturation Short upper lip Profound global developmental delay Relative macrocephaly Thin upper lip vermilion Hypoplasia of teeth Neurogenic bladder Joint laxity Congenital nystagmus Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Progressive visual loss Convex nasal ridge Aplasia/Hypoplasia of the phalanges of the hallux Hypoplasia of the corpus callosum High pitched voice Hyperkalemia Absent speech Prolonged QT interval Microphthalmia Intellectual disability, severe Atrial septal defect Agenesis of permanent teeth Agenesis of corpus callosum Ventriculomegaly Frontal bossing Long nose Posterior staphyloma Visual impairment Spasticity Cataract Nystagmus Loss of consciousness Myotonia Esotropia Scapular winging Hypoplasia of dental enamel Prominent nose Microcornea Iris coloboma Decreased body weight Short phalanx of finger Corneal opacity Ventricular tachycardia Hypokalemia Mental deterioration Oligodontia Ventricular arrhythmia Hydronephrosis Coarse facial features Autism Growth abnormality Short metatarsal Abnormality of the hip bone Scrotal hypoplasia Long fingers Prominent occiput Symphalangism of the 5th finger Muscular ventricular septal defect Parasomnia No permanent dentition Mesoaxial hand polydactyly Triangular mouth Short middle phalanx of the 5th finger Hand polydactyly Distal/middle symphalangism of 5th finger Coarse hair Depressed nasal ridge Premature birth Broad nasal tip Hypodontia Sleep disturbance Thick vermilion border Thick eyebrow Mesoaxial foot polydactyly Behavioral abnormality High forehead Abnormality of the cervical spine Dilated cardiomyopathy Hypertrophic cardiomyopathy Gastroesophageal reflux Macrotia Fatigue Muscular hypotonia Abnormal vertebral segmentation and fusion High anterior hairline Low-set, posteriorly rotated ears Genu recurvatum External ear malformation Megalocornea Broad palm Round face Finger syndactyly Attention deficit hyperactivity disorder Camptodactyly of finger Short philtrum Polydactyly Thin skin Hypoplasia of the cochlea Hemiparesis Ventricular hypertrophy Cyanosis Thin vermilion border Abnormal cardiac septum morphology Proptosis Recurrent respiratory infections Premature chromatid separation Increased body weight Small face Optic nerve coloboma Chromosome breakage Cutis marmorata Cupped ear Sloping forehead Smooth philtrum Wide mouth Sinusitis Easy fatigability Absence of the pulmonary valve Breathing dysregulation Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Endocarditis Abnormal nasal morphology Right ventricular failure Interrupted aortic arch Pulmonary artery atresia Clubbing Right ventricular hypertrophy Truncus arteriosus Double outlet right ventricle Hyperventilation Poor appetite Underdeveloped supraorbital ridges Polycythemia Heart murmur Hip dysplasia Coxa valga Restrictive ventilatory defect Areflexia Arthrogryposis multiplex congenita Retinopathy Joint stiffness Hyperlordosis Camptodactyly Deeply set eye Narrow mouth Prominent coccyx Hypermetropia Urethral valve Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Ophthalmoplegia Abnormality of eye movement Bilateral cleft lip Adducted thumb Macular dystrophy Decreased muscle mass Bilateral talipes equinovarus Mask-like facies Congenital contracture Bilateral ptosis Abnormal electroretinogram Bilateral single transverse palmar creases Abnormality of the foot Narrow face Joint contracture of the hand Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Webbed neck Astigmatism Short 5th finger Irregular vertebral endplates Coxa vara Aortic dissection Median cleft lip and palate Femoral hernia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Cardiorespiratory arrest Abnormal carotid artery morphology Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Telangiectasia of the skin Rocker bottom foot Pyloric stenosis Redundant skin Long palm Abnormality of the zygomatic bone Facial cleft Wormian bones Bifid scrotum Elbow dislocation Epiphyseal dysplasia Radioulnar synostosis Preaxial polydactyly Abnormality of the genitourinary system Spontaneous abortion Omphalocele Edema Congenital diaphragmatic hernia Abnormality of the pinna Abnormality of the kidney Cleft lip Muscular hypotonia of the trunk Micropenis Hypospadias Hernia Prominent U wave



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