Cleft palate, and Bradycardia

Diseases related with Cleft palate and Bradycardia

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


Top matches:

Medium match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


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

Medium 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

Medium 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

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Other less relevant matches:

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

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


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

Low match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low 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

Low match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Top 5 symptoms//phenotypes associated to Cleft palate and Bradycardia

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Seizures Syndactyly Micrognathia Scoliosis Flexion contracture Hypertelorism Apnea Muscular hypotonia Depressed nasal bridge Growth delay Neonatal hypotonia Microcephaly Strabismus Clinodactyly Proptosis Pectus excavatum Downslanted palpebral fissures Cryptorchidism Respiratory insufficiency Prominent forehead Talipes equinovarus Arachnodactyly Short stature Dilatation Hypoplasia of the corpus callosum Pain Neoplasm Wide nasal bridge Upslanted palpebral fissure Long philtrum Hydrocephalus Hypertension Failure to thrive Kyphosis Abnormal facial shape Ptosis Motor delay Hearing impairment Myopathy Short foot Frontal bossing Ventricular septal defect Abnormality of the skeletal system Facial palsy

Rare Symptoms - Less than 30% cases


Heart block Cleft upper lip Radial deviation of finger Atrial fibrillation Hypopigmentation of hair Cleft lip Retrognathia Hernia Oral cleft Myopia Aortic valve stenosis Atrioventricular block Intellectual disability, severe Ventriculomegaly Intrauterine growth retardation Down-sloping shoulders Thoracic scoliosis Cognitive impairment High, narrow palate Oligohydramnios Spina bifida Hypogonadotrophic hypogonadism Obesity Inflammation of the large intestine Midface retrusion Congestive heart failure Sprengel anomaly Narrow palpebral fissure Abnormality of the pinna Brachycephaly Clumsiness Attention deficit hyperactivity disorder Hypoglycemia Thin upper lip vermilion Fever Scarring Anteverted nares Open mouth Carious teeth Abnormality of the dentition Tapered finger Low anterior hairline Full cheeks Nevus Febrile seizures Convex nasal ridge Hypopigmentation of the skin Narrow forehead Congenital diaphragmatic hernia Short palm Elbow flexion contracture Macrocephaly Gastrointestinal hemorrhage Joint dislocation Sleep apnea Trigonocephaly Ataxia Spasticity Epicanthus Brachydactyly Abnormality of the cardiovascular system Inguinal hernia Abnormal cardiac septum morphology Scrotal hypoplasia Decreased fetal movement Vomiting Proximal muscle weakness Atrial septal defect Polyhydramnios Abnormality of cardiovascular system morphology Micropenis Joint laxity Respiratory tract infection Shoulder girdle muscle weakness Respiratory failure Muscular dystrophy Recurrent respiratory infections Congenital muscular dystrophy Type 1 muscle fiber atrophy Areflexia Muscle weakness Skeletal muscle atrophy Polydactyly Short neck Respiratory distress Edema Kyphoscoliosis Dolichocephaly Scapular winging Palpitations Temperature instability Central adrenal insufficiency Back pain Ventricular arrhythmia Hypoplastic labia minora EMG: myopathic abnormalities Narrow palm Myocardial infarction Respiratory insufficiency due to muscle weakness Frequent falls Psychotic episodes Progressive muscle weakness Hypertriglyceridemia Reduced tendon reflexes Triangular mouth Knee flexion contracture Waddling gait Syncope Myotonia Disseminated intravascular coagulation Vocal cord paralysis Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Distal lower limb amyotrophy Limb-girdle muscle weakness Proximal amyotrophy Progressive proximal muscle weakness Lipodystrophy Ankle contracture Rimmed vacuoles Spinal rigidity Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Falls Spinal muscular atrophy Clitoral hypoplasia Frontal upsweep of hair Limb-girdle muscular dystrophy Erysipelas Sudden cardiac death Rigidity Vertigo Impulsivity Aortic root aneurysm Emphysema Aortic aneurysm Cutis laxa Overgrowth Recurrent fractures Bulbous nose Joint hypermobility Ganglioneuroblastoma Pontocerebellar atrophy Inverted nipples Laryngomalacia Abnormality of the vasculature Hyperbilirubinemia Paraparesis Postnatal microcephaly Apraxia Delayed myelination Inability to walk Generalized tonic-clonic seizures Poor gross motor coordination Protruding ear Hypothyroidism Absent speech Blotching pigmentation of the skin Soft skin Arterial stenosis Ichthyosis Elevated serum creatine phosphokinase Lower limb muscle weakness Limb muscle weakness Dilated cardiomyopathy Joint stiffness Hyperlordosis Hypertrophic cardiomyopathy Limb-girdle muscle atrophy Difficulty walking Dyspnea Hypopnea Pes cavus Arrhythmia Pulmonary insufficiency Almond-shaped palpebral fissure Cardiomyopathy Gait disturbance Pulmonary artery dilatation Generalized arterial tortuosity Pulmonary artery aneurysm Prominence of the premaxilla Multiple joint dislocation Intussusception Arterial tortuosity Biventricular hypertrophy Narrow naris Proximal muscle weakness in upper limbs Proximal upper limb amyotrophy Left anterior fascicular block Capitate-hamate fusion Hypogonadism Osteoporosis Hyporeflexia Short nose Intellectual disability, mild Behavioral abnormality Delayed speech and language development Nystagmus Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Synostosis of carpals/tarsals Diabetes mellitus Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Infantile muscular hypotonia Poor suck Nasal speech Failure to thrive in infancy Precocious puberty Anterior plagiocephaly Hyperinsulinemia Emotional lability Bicuspid aortic valve Hyperactivity Oxycephaly Downturned corners of mouth Psychosis Type II diabetes mellitus Primary amenorrhea Amenorrhea Specific learning disability Hip dysplasia Insulin resistance Growth hormone deficiency Esotropia Increased body weight Sepsis Sleep disturbance Small hand Polymicrogyria Weight loss Spontaneous abortion Infertility Genu valgum Delayed puberty Hypermetropia Pruritus Leukemia Stroke Abnormality of the nervous system Photophobia Osteopenia Narrow mouth Autism Large hands Glucose intolerance Peroneal muscle weakness Malar flattening Oligomenorrhea Epidermal acanthosis Bilateral sensorineural hearing impairment Acrocyanosis Dental malocclusion Hypoplasia of the fovea Chromosome breakage Ocular albinism Hypothermia Generalized hypopigmentation Craniosynostosis Autistic behavior Anxiety Dysphagia Central hypotonia Hyperreflexia Cor pulmonale Abdominal obesity Poor fine motor coordination Sensorineural hearing impairment Absent muscle fiber emerin Restricted neck movement due to contractures Anteverted ears Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Cutaneous photosensitivity Scapuloperoneal amyotrophy Ventricular escape rhythm Overweight Abnormality of lipid metabolism Albinism Esophageal atresia Skeletal muscle hypertrophy Adrenal insufficiency Aqueductal stenosis Decreased muscle mass Alacrima Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Truncal obesity External genital hypoplasia Coronal craniosynostosis Polyphagia Carpal synostosis Narrow nasal bridge Myeloid leukemia Plagiocephaly Impaired pain sensation Striae distensae Tarsal synostosis Hypermelanotic macule Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Cone-shaped epiphysis Increased intracranial pressure Pulmonary embolism Hypoventilation Hypopigmented skin patches Acanthosis nigricans Iris hypopigmentation Limited hip extension Neoplasm of the skin Corneal scarring Short humerus Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Truncus arteriosus Short clavicles Absent radius Oligodactyly Atrioventricular canal defect Partial duplication of thumb phalanx Absent thumb Limited elbow extension Petechiae Hypoplastic left heart Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Triphalangeal thumb Hypoplasia of the radius Eosinophilia Aortic regurgitation Abnormality of the carpal bones Aplasia of the ulna Horseshoe kidney Camptodactyly Limitation of joint mobility Vesicoureteral reflux Everted lower lip vermilion Hirsutism Long face Talipes Synophrys Narrow chest Platyspondyly Severe global developmental delay Camptodactyly of finger Retinopathy Abnormality of the kidney Muscular hypotonia of the trunk Short digit Gastroesophageal reflux Cerebral cortical atrophy Posteriorly rotated ears Agenesis of corpus callosum Recurrent infections Optic atrophy Hepatomegaly Quadricuspid aortic valve Patellar subluxation Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Finger clinodactyly Abnormal vertebral morphology Wide intermamillary distance Tented upper lip vermilion Facial diplegia Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Difficulty running Centrally nucleated skeletal muscle fibers Cystic hygroma Myopathic facies Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Akinesia Pterygium External ophthalmoplegia Nemaline bodies Narrow face Hydrops fetalis Cyanosis Aciduria Webbed neck Generalized muscle weakness Single transverse palmar crease Pulmonary hypoplasia Ophthalmoplegia Arthrogryposis multiplex congenita Prominent nasal bridge Feeding difficulties in infancy Pneumonia Fetal akinesia sequence Type 1 muscle fiber predominance Short thumb Type 1 and type 2 muscle fiber minicore regions Epistaxis Coarctation of aorta Mitral valve prolapse Asthma Bruising susceptibility Nausea Hepatosplenomegaly Abnormal heart morphology Patent ductus arteriosus Thrombocytopenia Diarrhea Fatigue Anemia Abnormal muscle morphology Exercise-induced myalgia Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Intestinal malrotation Dandy-Walker malformation Hand clenching Long fingers Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Fragile nails Narrow nose Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Basal cell carcinoma Medulloblastoma Milia Disproportionate tall stature Melanocytic nevus Nephritis Glomerulonephritis Relative macrocephaly Spina bifida occulta Hemivertebrae Muscle stiffness Short ribs Hyperpigmentation of the skin Exotropia Hemiparesis Astrocytoma Ectopic calcification Cerebral calcification Bifid ribs Short chin Sensory neuropathy Tachycardia Hyperhidrosis Peripheral neuropathy Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Curved fingers Supernumerary ribs Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Abnormality of the ribs Hypotension High myopia Supernumerary nipple Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Nevus flammeus Underdeveloped supraorbital ridges Prominent metopic ridge Ulnar deviation of finger Dislocated radial head Biparietal narrowing Broad palm Short thorax Overlapping toe Deep palmar crease Hypoplasia of the brainstem Nephroblastoma Elbow dislocation CNS hypomyelination Hemangioma Sacral dimple Narrow palate Short toe Decreased body weight Heterotopia Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound Abnormality of the pancreas Thick hair Palmoplantar keratoderma Abdominal pain Postaxial polydactyly Iris coloboma Hypotrichosis Papule Coloboma Sparse hair Telecanthus Proteinuria Carcinoma EEG abnormality Coarse facial features Mandibular prognathia Glaucoma Visual loss Abnormal anterior chamber morphology Microphthalmia Dysarthria Cataract Delayed peripheral myelination Hyperechogenic pancreas Facial capillary hemangioma 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 Broad alveolar ridges Acromicria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Open mouth, related diseases and genetic alterations Lymphoma and Ventriculomegaly, related diseases and genetic alterations High palate and Toe syndactyly, related diseases and genetic alterations Ptosis and Febrile seizures, related diseases and genetic alterations

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