Brachydactyly, and Arrhythmia

Diseases related with Brachydactyly and Arrhythmia

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


Top matches:

Low match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match HEART-HAND SYNDROME, SLOVENIAN TYPE


Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

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Other less relevant matches:

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 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Low match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Low match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Low match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Low match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Arrhythmia

Symptoms // Phenotype % cases
Clinodactyly Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
Ventricular extrasystoles Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Arrhythmia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thin upper lip vermilion Syncope Broad forehead Intellectual disability Cleft palate Syndactyly Generalized hypotonia Dental crowding Apnea Micrognathia Pectus excavatum Downslanted palpebral fissures Long philtrum Muscle weakness Short toe Abnormality of the skeletal system Palpitations Thin vermilion border Depressed nasal bridge Sudden cardiac death Seizures Ventricular septal defect Short nose Short palm Atrioventricular block Short phalanx of finger

Rare Symptoms - Less than 30% cases


Short long bone Heart murmur Preauricular pit Abnormal facial shape Tetralogy of Fallot High palate Disproportionate short stature Pulmonic stenosis Kyphosis Everted lower lip vermilion Anteverted nares Limb undergrowth Frontal bossing Hyperreflexia Muscular hypotonia Narrow chest 11 pairs of ribs Obstructive sleep apnea Abnormality of the ribs Midface retrusion Atrial septal defect Short neck Rhizomelia Synophrys Conductive hearing impairment Posteriorly rotated ears Delayed skeletal maturation Dolichocephaly Short finger Abnormal cardiac septum morphology Ventricular tachycardia Abnormal atrioventricular conduction Short metacarpal Broad nasal tip Limb muscle weakness Dilated cardiomyopathy Wide nose Thick eyebrow Tachycardia Intrauterine growth retardation Joint laxity Cardiac arrest Atrial fibrillation Ventricular hypertrophy 2-3 toe syndactyly Hypertelorism Abnormality of cardiovascular system morphology Congestive heart failure Cryptorchidism Malar flattening Abnormal heart morphology Patent ductus arteriosus Proptosis Hypospadias Ptosis Wide nasal bridge Left bundle branch block Retrognathia Elevated serum creatine phosphokinase Depressivity Hernia Cognitive impairment Prolonged QT interval Prominent forehead Bulbous nose Right bundle branch block Brachycephaly Umbilical hernia Hydronephrosis Cleft lip Myotonia Oligodontia Short metatarsal Ventricular arrhythmia Craniosynostosis Prominent nasal bridge Scoliosis Toe syndactyly Short digit Reduced tendon reflexes Specific learning disability Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Muscle fiber tubular inclusions Antegonial notching of mandible Clinodactyly of the 5th toe Bidirectional ventricular ectopy Scapular winging Prominent frontal sinuses Abnormal palate morphology Bilateral single transverse palmar creases Hypoplasia of dental enamel Febrile seizures Short mandibular rami First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Growth abnormality Abnormal T-wave Torsade de pointes Hypoplasia of the maxilla Aplasia/Hypoplasia of the maxilla Small hand High, narrow palate Strabismus T-wave inversion Triangular face Abnormality of the helix Finger syndactyly Delayed epiphyseal ossification Spondylometaphyseal dysplasia Flared iliac wings Myocarditis Hypoplastic iliac wing Flat acetabular roof Hyperphosphatemia Cone-shaped epiphyses of the phalanges of the hand Metaphyseal cupping Cardiorespiratory arrest Heart block Turricephaly Metaphyseal dysplasia Cortical gyral simplification Thoracic hypoplasia Abnormality of neuronal migration Metaphyseal chondrodysplasia Porencephalic cyst Cone-shaped epiphysis Rhizomelic arm shortening Horizontal inferior border of scapula Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Abnormality of the scapula Coronal cleft vertebrae Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Metaphyseal irregularity Redundant skin Hypermetropia Bilateral cryptorchidism Shawl scrotum Natal tooth Broad palm Long palpebral fissure High hypermetropia Ectopic kidney Deep philtrum Lipoma Short chin Finger clinodactyly Omphalocele Congenital diaphragmatic hernia Round face Highly arched eyebrow Oral cleft Sprengel anomaly Widow's peak Systemic lupus erythematosus Respiratory failure Poor suck Lissencephaly Accelerated skeletal maturation Hypocalcemia Short ribs Pachygyria Platyspondyly Agenesis of corpus callosum Hyperacusis Cerebellar hypoplasia Respiratory insufficiency Talipes equinovarus Female pseudohermaphroditism Broad eyebrow Dimple chin Advanced eruption of teeth Aplasia of the 1st metacarpal Long thorax Obsessive-compulsive trait Pulmonary valve atresia Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Tetralogy of Fallot with absent pulmonary valve Easy fatigability Sleep apnea Spondylolisthesis Wolff-Parkinson-White syndrome Supraventricular tachycardia Pierre-Robin sequence Proportionate short stature Transposition of the great arteries Infantile muscular hypotonia Absence of the pulmonary valve Sandal gap Spina bifida occulta Narrow forehead Low-set, posteriorly rotated ears Osteopenia Hearing impairment Clubbing Increased body weight Perimembranous ventricular septal defect Cardiomyopathy Fatigue Vertigo Mitral valve prolapse Left ventricular hypertrophy Bradycardia Aortic regurgitation Ventricular fibrillation Sinus bradycardia Left ventricular noncompaction Sick sinus syndrome Stroke Paroxysmal atrial fibrillation Thromboembolic stroke Flexion contracture Myopathy Sinusitis Respiratory distress Hemiparesis Cyanosis Paralysis Respiratory tract infection Dyspnea Recurrent respiratory infections Anemia Abnormality of the foot Growth delay Abnormal electrophysiology of sinoatrial node origin Distal symphalangism of hands Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Upper limb muscle weakness Short 5th metacarpal Anterior open bite Mild global developmental delay Gait ataxia Childhood onset short-limb short stature Abnormality of the ilium Acromelia Global developmental delay Microcephaly Feeding difficulties Delayed speech and language development Motor delay Epicanthus Dysphagia Behavioral abnormality Recurrent infections Upslanted palpebral fissure Hyperactivity Macrotia Aplasia/hypoplasia of the extremities Tapered finger Abnormality of finger Absent radius Obsessive-compulsive behavior Abnormality of the hand Low anterior hairline Hypodontia Thick vermilion border High forehead Short distal phalanx of finger Facial asymmetry Poor speech Attention deficit hyperactivity disorder Aggressive behavior Pes planus Narrow sacroiliac notch Neonatal short-limb short stature Prominent sternum Hyperhidrosis Dental malocclusion Micromelia Joint hyperflexibility Neurological speech impairment Joint stiffness Hyperlordosis Severe short stature Abnormality of the metaphysis Obesity Hydrocephalus Ventriculomegaly Macrocephaly Dysarthria Paroxysmal supraventricular tachycardia Lumbar hyperlordosis Abnormal form of the vertebral bodies Diaphyseal thickening Chronic otitis media Large forehead Abnormality of the elbow Spinal canal stenosis Limited elbow extension Mesomelia Flared metaphysis Elbow dislocation Bowing of the long bones Abnormality of pelvic girdle bone morphology Genu varum Disproportionate short-limb short stature Acanthosis nigricans Wormian bones Clonus 11 thoracic vertebrae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Abnormality of the genital system, related diseases and genetic alterations Lymphoma and Recurrent fractures, related diseases and genetic alterations

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