Brachydactyly, and Bradycardia

Diseases related with Brachydactyly and Bradycardia

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


Top matches:

Medium 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

Medium match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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Other less relevant matches:

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Low match BOHRING-OPITZ SYNDROME


Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Low match ATRIAL SEPTAL DEFECT 6; ASD6


Related symptoms:

  • Atrial septal defect
  • Atrial fibrillation
  • Bradycardia


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 6; ASD6

Low match SINOATRIAL NODE DYSFUNCTION AND DEAFNESS


Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.

Related symptoms:

  • Hearing impairment
  • Syncope
  • Bradycardia
  • Vestibular dysfunction
  • Abnormal atrioventricular conduction


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINOATRIAL NODE DYSFUNCTION AND DEAFNESS

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7


Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Bradycardia

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Atrial fibrillation Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Ventricular septal defect Abnormality of the skeletal system Frontal bossing Low-set ears Flexion contracture Short stature Proptosis Strabismus Hypertelorism Muscle weakness Micrognathia Atrial septal defect Abnormality of cardiovascular system morphology Syncope

Rare Symptoms - Less than 30% cases


Microcephaly Abnormal atrioventricular conduction Nevus Prominent forehead Brachycephaly Cleft lip Retrognathia Abnormal electrophysiology of sinoatrial node origin Polydactyly Apnea Short foot Abnormal cardiac septum morphology High, narrow palate Scoliosis Low anterior hairline Pectus excavatum Wide nasal bridge Cryptorchidism Oral cleft Neoplasm Down-sloping shoulders Thoracic scoliosis Trigonocephaly Cleft upper lip Cardiomyopathy Hypertension Hydrocephalus Atrioventricular block Failure to thrive Aortic regurgitation Mitral valve prolapse Seizures Global developmental delay High palate Ventricular extrasystoles Downslanted palpebral fissures Macrocephaly Hypoplasia of the corpus callosum Arrhythmia Fatigue Abnormal vertebral morphology Short neck Ventriculomegaly Talipes equinovarus Optic atrophy Myopia Aortic valve stenosis Intrauterine growth retardation Horseshoe kidney Camptodactyly of finger Severe global developmental delay Hepatomegaly Finger clinodactyly Intellectual disability, severe Abnormality of the kidney Long philtrum Upslanted palpebral fissure Camptodactyly Muscular hypotonia of the trunk Coarctation of aorta Gastroesophageal reflux Polyhydramnios Cerebral cortical atrophy Posteriorly rotated ears Dilatation Epistaxis Retinopathy Feeding difficulties Inguinal hernia Short thumb Hernia Recurrent infections Agenesis of corpus callosum Quadricuspid aortic valve Eosinophilia Atrioventricular canal defect Truncus arteriosus Heart block Absent radius Triphalangeal thumb Oligodactyly Bowing of the legs Short humerus Absent thumb Allergy Limited elbow extension Petechiae Hypoplastic left heart Hypoplasia of the ulna Right bundle branch block Menorrhagia Bundle branch block Secundum atrial septal defect Ecchymosis Muscular hypotonia Mesoaxial polydactyly Growth delay Hypoplasia of the radius Generalized hypotonia Patellar subluxation Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Short digit Complete atrioventricular canal defect Aplasia of the ulna Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Short clavicles Interphalangeal joint contracture of finger Platyspondyly Broad alveolar ridges Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Abnormal anterior chamber morphology Hyperechogenic pancreas Thick hair Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Facial capillary hemangioma Delayed peripheral myelination Underdeveloped supraorbital ridges Thromboembolic stroke Aplasia of the middle phalanx of the hand Supraventricular arrhythmia Upper limb muscle weakness Abnormality of the foot Limb muscle weakness Dilated cardiomyopathy Myopathy Paroxysmal atrial fibrillation Vestibular dysfunction Ventricular tachycardia Tachycardia Stroke Proximal amyotrophy Neck muscle weakness Progressive muscle weakness Muscular dystrophy Proximal muscle weakness Nevus flammeus Prominent metopic ridge Narrow chest Intestinal malrotation Intellectual disability, profound High myopia Congenital diaphragmatic hernia Narrow forehead Dandy-Walker malformation Convex nasal ridge Wide intermamillary distance Limitation of joint mobility Hypertrichosis Vesicoureteral reflux Full cheeks Tapered finger Everted lower lip vermilion Hirsutism Long face Talipes Synophrys Gastrointestinal hemorrhage Heterotopia Ulnar deviation of finger Nephroblastoma Dislocated radial head Biparietal narrowing Broad palm Short thorax Supernumerary nipple Overlapping toe Hypoplasia of the brainstem Elbow dislocation Decreased body weight CNS hypomyelination Sleep apnea Hemangioma Sacral dimple Joint dislocation Narrow palate Elbow flexion contracture Short toe Abnormality of the cardiovascular system Palmar pits Asthma Lambdoidal craniosynostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Abnormality of the head Low-frequency sensorineural hearing impairment Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Unicoronal synostosis Thimble-shaped middle phalanges of hand Hypopigmentation of hair Abdominal pain Proteinuria Carcinoma EEG abnormality Coarse facial features Kyphoscoliosis Mandibular prognathia Glaucoma Visual loss Ataxia Microphthalmia Abnormality of the dentition Dysarthria Epicanthus Motor delay Spasticity Cataract Pain Esophageal atresia Tarsal synostosis Facial palsy Left ventricular noncompaction Anteverted nares Dysphagia Hyperreflexia Cognitive impairment Ptosis Sensorineural hearing impairment Sick sinus syndrome Sinus bradycardia Malar flattening Ventricular fibrillation Cardiac arrest Left ventricular hypertrophy Palpitations Ventricular hypertrophy Sudden cardiac death Vertigo Congestive heart failure Respiratory insufficiency Midface retrusion Hypermelanotic macule Acanthosis nigricans Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Cone-shaped epiphysis Increased intracranial pressure Hypopigmented skin patches Plagiocephaly Anxiety Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Dental malocclusion Hypopigmentation of the skin Short palm Craniosynostosis Autistic behavior Telecanthus Sparse hair Bruising susceptibility Vertebral wedging Calcification of falx cerebri Orbital cyst Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Abnormality of the sense of smell Curved fingers Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Histiocytoma Bifid ribs Broad face Respiratory distress Nausea Hepatosplenomegaly Abnormal heart morphology Patent ductus arteriosus Thrombocytopenia Diarrhea Vomiting Depressed nasal bridge Cardiac rhabdomyoma Anemia Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Ulcerative colitis Neoplasm of the endocrine system Coloboma Abnormality of the ribs Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Hyperpigmentation of the skin Exotropia Hemiparesis Cerebral calcification Spina bifida occulta Hypotension Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Arachnodactyly Carious teeth Hypotrichosis Papule Hemivertebrae Neoplasm of the skin Abnormality of the neck Vertebral fusion Short 4th metacarpal Skin tags Fragile nails Narrow nose Sprengel anomaly Abnormality of the sternum Colitis Agenesis of permanent teeth Relative macrocephaly Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Distal symphalangism of hands



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