Hypertelorism, and Bradycardia

Diseases related with Hypertelorism and Bradycardia

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

Top matches:

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

High match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Other less relevant matches:

High 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

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

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

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Bradycardia

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Prominent forehead Atrial septal defect Macrocephaly Ventricular septal defect Wide nasal bridge Seizures Ptosis Muscular hypotonia Scoliosis Syndactyly Flexion contracture High palate Abnormal facial shape Proptosis Microcephaly Depressed nasal bridge Long philtrum Short stature Cleft palate Growth delay Cryptorchidism Motor delay Talipes equinovarus Short neck Myopathy Webbed neck Micrognathia Facial palsy Strabismus Abnormal cardiac septum morphology Hearing impairment Epicanthus Arrhythmia

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Low anterior hairline Hypoplasia of the maxilla High, narrow palate Short foot Severe failure to thrive Severe intrauterine growth retardation Centrally nucleated skeletal muscle fibers Difficulty running Carious teeth Myopathic facies Trigonocephaly Congenital muscular dystrophy Mandibular prognathia Generalized muscle weakness Arthrogryposis multiplex congenita Apnea Malar flattening Brachycephaly Muscular dystrophy Myopia Recurrent infections Cognitive impairment Abnormality of cardiovascular system morphology Dilatation Brachydactyly Gastroesophageal reflux Frontal bossing Hip dislocation Abnormality of the skeletal system Hypertrophic cardiomyopathy Hypoplasia of the corpus callosum Hydrocephalus Autistic behavior Minicore myopathy Dysphagia Abnormality of the sternum Joint laxity Nevus Joint dislocation Oral cleft Respiratory insufficiency Retrognathia Clinodactyly Ventriculomegaly Congenital diaphragmatic hernia Pneumonia Cleft lip Overgrowth Convex nasal ridge Cleft upper lip Polyhydramnios Feeding difficulties Hernia Pectus excavatum Joint hypermobility Muscle weakness Biventricular hypertrophy Intrauterine growth retardation Full cheeks Failure to thrive Neoplasm Neonatal hypotonia Spina bifida Kyphoscoliosis Inguinal hernia Arachnodactyly Accessory oral frenulum Everted lower lip vermilion Hirsutism Tapered finger Atrophy of the spinal cord Long face Elbow flexion contracture Ulnar deviation of the wrist Microphthalmia Carcinoma EEG abnormality Coarse facial features Synophrys Polydactyly Glaucoma Abdominal pain Visual loss Dysarthria Facial hemangioma Spasticity Cataract Pain Talipes Ataxia Delayed peripheral myelination Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Hyperechogenic pancreas Limitation of joint mobility Vesicoureteral reflux Overlapping toe Heterotopia Telecanthus Dislocated radial head Biparietal narrowing Broad palm Short thorax Supernumerary nipple Hypoplasia of the brainstem Prominent metopic ridge Nephroblastoma Elbow dislocation CNS hypomyelination Sleep apnea Hemangioma Decreased body weight Sacral dimple Short toe Ulnar deviation of finger Hypertrichosis Deep plantar creases Abnormality of the pancreas Narrow palate Intestinal malrotation Broad alveolar ridges Abnormal anterior chamber morphology Wide intermamillary distance Thick hair Deep palmar crease Dandy-Walker malformation Underdeveloped supraorbital ridges Narrow forehead Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis High myopia Intellectual disability, profound Nevus flammeus Interphalangeal joint contracture of finger Proteinuria Melanocytic nevus Sparse hair Ovarian fibroma Type II diabetes mellitus Dehydration Macroglossia Small for gestational age Diabetes mellitus Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Glucose intolerance Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Hyperglycemia Premature atrial contractions Parietal bossing Ankle contracture Broad hallux phalanx Broad thumb Pectus carinatum Microtia Narrow mouth Mitochondrial depletion Increased endomysial connective tissue Abnormal levels of creatine kinase in blood Left ventricular noncompaction Cleft soft palate Difficulty climbing stairs Transient neonatal diabetes mellitus Calf muscle hypertrophy Radioulnar synostosis Knee flexion contracture Dilated cardiomyopathy Elevated serum creatine phosphokinase Congestive heart failure Cardiomyopathy Thick vermilion border Pulmonic stenosis Wide mouth Hypoinsulinemia Ovarian carcinoma Vertebral wedging Coloboma Short ribs Inflammation of the large intestine Wolff-Parkinson-White syndrome Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Hyperpigmentation of the skin Milia Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Hypotrichosis Papule Disproportionate tall stature Basal cell carcinoma Abnormality of the sense of smell Neoplasm of the endocrine system Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Abnormality of the neck Platyspondyly Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Narrow chest Cone-shaped epiphysis Severe global developmental delay Nemaline bodies Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Type 1 muscle fiber predominance Shoulder girdle muscle weakness Fetal akinesia sequence Functional respiratory abnormality Facial diplegia Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Cystic hygroma Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Akinesia Generalized limb muscle atrophy Type 1 muscle fiber atrophy Tented upper lip vermilion Encephalopathy Coma Toe syndactyly Hypoglycemia Thin upper lip vermilion Hypothyroidism Autism Constipation Abnormal heart morphology Patent ductus arteriosus Depressivity Internally nucleated skeletal muscle fibers Immunodeficiency Behavioral abnormality Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Pterygium Scrotal hypoplasia Syncope Soft skin Prominence of the premaxilla Multiple joint dislocation Intussusception Arterial tortuosity Narrow naris Pulmonary insufficiency Arterial stenosis Abnormality of the vasculature Aortic root aneurysm Generalized arterial tortuosity Emphysema Aortic aneurysm Cutis laxa Narrow palpebral fissure Oligohydramnios Recurrent fractures Bulbous nose Scarring Abnormality of the pinna Pulmonary artery aneurysm Pulmonary artery dilatation External ophthalmoplegia Prominent nasal bridge Narrow face Hydrops fetalis Decreased fetal movement Cyanosis Aciduria Single transverse palmar crease Pulmonary hypoplasia Ophthalmoplegia Dolichocephaly Respiratory tract infection Skeletal muscle atrophy Feeding difficulties in infancy Proximal muscle weakness Micropenis Respiratory failure Recurrent respiratory infections Areflexia Kyphosis Edema Respiratory distress Sudden cardiac death Round face Camptodactyly of finger Tarsal synostosis Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypopigmentation of hair Hypermelanotic macule Abnormality of the head Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Increased intracranial pressure Hypopigmented skin patches Acanthosis nigricans Plagiocephaly Epidermal acanthosis Anterior plagiocephaly Lambdoidal craniosynostosis Febrile seizures Optic atrophy Retinopathy Abnormality of the kidney Camptodactyly Muscular hypotonia of the trunk Cerebral cortical atrophy Upslanted palpebral fissure Posteriorly rotated ears Agenesis of corpus callosum Intellectual disability, severe Hepatomegaly Parietal foramina Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Bilateral sensorineural hearing impairment Dental malocclusion Esotropia Ventricular tachycardia 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Abnormality of dental enamel Prolonged QT interval Hypocalcemia Cardiac arrest Sinusitis Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Cardiomegaly Tetralogy of Fallot Microdontia Multiple joint contractures Mixed hearing impairment Hypopigmentation of the skin Atrioventricular dissociation Short palm Craniosynostosis Anxiety Midface retrusion Anteverted nares Hyperreflexia Hypertension Sensorineural hearing impairment Abnormal direction of ventricular apex T-wave alternans Bronchitis Abnormality of dental color Frontal balding Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Thickened helices


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