Cleft palate, and Cardiomyopathy

Diseases related with Cleft palate and Cardiomyopathy

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


Top matches:

Low match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


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

Low match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

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 COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

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 BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

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

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Abnormal facial shape Intrauterine growth retardation Global developmental delay Hearing impairment Generalized hypotonia Elevated serum creatine phosphokinase Hypertelorism Flexion contracture Motor delay Sensorineural hearing impairment Seizures Ventricular septal defect Low-set ears Fatigue Microcephaly Talipes equinovarus Intellectual disability Myopathy Cardiac arrest Ptosis Muscular dystrophy Hip dislocation

Rare Symptoms - Less than 30% cases


Hydronephrosis Prominent forehead Intellectual disability, mild Short stature Cleft lip Thin vermilion border Retrognathia Bifid uvula Delayed myelination Hypothyroidism Anteverted nares Abnormal heart morphology Hernia Hyperextensible skin Blepharophimosis Posteriorly rotated ears Umbilical hernia Osteopenia Inguinal hernia Patent ductus arteriosus Myopia Short neck Epicanthus Muscular hypotonia Specific learning disability Cryptorchidism Brachydactyly Wide nasal bridge Short nose Malignant hyperthermia Dyspnea Proteinuria Thin upper lip vermilion Minicore myopathy Malar flattening Cleft soft palate Centrally nucleated skeletal muscle fibers Myopathic facies Bulbous nose Congenital muscular dystrophy Clinodactyly of the 5th finger Webbed neck Feeding difficulties Generalized muscle weakness Arthrogryposis multiplex congenita Joint laxity Facial palsy Neonatal hypotonia Arrhythmia Congestive heart failure Atrial septal defect Cognitive impairment Difficulty climbing stairs Muscle cramps Fever Polyhydramnios Kyphoscoliosis Pes planus Skeletal muscle atrophy Talipes Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Hypospadias Periodic hypokalemic paresis Short mandibular rami Antegonial notching of mandible Bidirectional ventricular ectopy Prominent frontal sinuses Sudden cardiac death Aplasia/Hypoplasia of the maxilla Ventriculomegaly Short phalanx of finger Oligodontia Cerebellar hypoplasia Pulmonary hypoplasia Hydrops fetalis Cardiomegaly Limb undergrowth Palpitations Ascites Recurrent fractures Hypoplasia of dental enamel Short digit Flat face Platyspondyly Small for gestational age Telecanthus Micropenis Brachycephaly Syncope Periodic paralysis Clinodactyly of the 5th toe Short finger Ventricular arrhythmia Growth abnormality Abnormal palate morphology Short metatarsal Small hand High, narrow palate Ventricular tachycardia Myotonia Wide nose Short palm 2-3 toe syndactyly Right bundle branch block Prolonged QT interval Ventricular extrasystoles First degree atrioventricular block Left bundle branch block T-wave inversion Torsade de pointes Scapular winging Short metacarpal Hypoplasia of the maxilla Triangular face Bilateral single transverse palmar creases Abnormal atrioventricular conduction Abnormal T-wave Broad nasal tip Reduced tendon reflexes Delayed eruption of permanent teeth Febrile seizures Hip dysplasia Short ribs Median cleft lip and palate Intellectual disability, severe Depressed nasal bridge Delayed speech and language development Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Femoral hernia Microphthalmia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Cardiorespiratory arrest Hiatus hernia Abnormality of the dentition Narrow mouth Aortic root aneurysm Heart murmur Neonatal asphyxia Abnormal palmar dermatoglyphics Epicanthus inversus Patellar hypoplasia Hypoplasia of teeth Congenital hypothyroidism Prominent occiput Scrotal hypoplasia Postnatal growth retardation Abnormality of the outer ear Widely spaced teeth Torticollis Macular degeneration Amblyopia Recurrent otitis media Microdontia Microtia Pulmonary artery stenosis Prematurely aged appearance Wormian bones Multiple prenatal fractures Hypertension Strabismus Decreased fibular diameter Fractured radius Multiple rib fractures Beaded ribs Large fleshy ears Unilateral cleft lip Respiratory distress Short femur Decreased skull ossification Single umbilical artery Thoracic hypoplasia Flared metaphysis Pleural effusion Adducted thumb Disproportionate short-limb short stature Macrocephaly Dilatation Keratoconus Thin skin Telangiectasia of the skin Rocker bottom foot Aortic aneurysm Pyloric stenosis Redundant skin Coxa vara Coxa valga Myocardial infarction Respiratory failure Short palpebral fissure Toe syndactyly Long face Arachnodactyly Joint hyperflexibility Craniosynostosis Gastroesophageal reflux Macrotia Limb muscle weakness Unilateral renal dysplasia Dolichocephaly Cerebral venous thrombosis Abnormality of the foot Scarring Hyperkeratosis Gait disturbance Abnormal protein glycosylation Type II transferrin isoform profile Increased muscle glycogen content Bruising susceptibility Exercise-induced muscle fatigue Increased intramyocellular lipid droplets Reduced antithrombin III activity Decreased serum insulin-like growth factor 1 Chronic hepatitis Type I transferrin isoform profile Small face Joint hypermobility Microcornea Pierre-Robin sequence Increased susceptibility to fractures Keloids Bladder diverticulum Follicular hyperkeratosis Soft skin Atrophic scars Disproportionate tall stature Poor suck Waddling gait Easy fatigability Poor head control Cutis laxa Severe muscular hypotonia Blue sclerae Hypotelorism Sloping forehead Hyperinsulinemic hypoglycemia Rhabdomyolysis Arterial rupture Increased endomysial connective tissue Congenital hip dislocation Decreased fetal movement Proximal muscle weakness Areflexia Respiratory insufficiency Mitochondrial depletion Abnormal levels of creatine kinase in blood Ophthalmoparesis Left ventricular noncompaction Ankle contracture Difficulty running Calf muscle hypertrophy Radioulnar synostosis Knee flexion contracture Abnormal cardiac septum morphology Limb-girdle muscular dystrophy Spinal rigidity Abnormality of the coagulation cascade Delayed puberty Exercise intolerance Hypogonadotrophic hypogonadism Hepatitis Chest pain Hepatic steatosis Tachycardia Abnormality of the liver Nemaline bodies Elevated hepatic transaminase Hypoglycemia Hypogonadism Stooped posture Generalized limb muscle atrophy Skeletal myopathy Type 1 muscle fiber predominance High-frequency sensorineural hearing impairment Abnormal eye morphology Broad forehead Failure to thrive Obesity Absent speech Long philtrum Hypertonia Hydrocephalus Hypoplasia of the corpus callosum Parathyroid hypoplasia Wide mouth Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Coarse facial features Severe global developmental delay Uterus didelphys Protruding tongue Clinodactyly Depressivity Syndactyly Skull asymmetry Periorbital fullness Severe failure to thrive Cutis marmorata Macroglossia Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Small nail Ventricular hypertrophy Dandy-Walker malformation Distal renal tubular acidosis Hypocalcemic seizures Aortic rupture Stroke Renal dysplasia Nephrotic syndrome Bilateral sensorineural hearing impairment Ectodermal dysplasia Vesicoureteral reflux Hematuria Abnormality of the kidney Hypocalcemia Myalgia Acidosis Diabetes mellitus Rod-cone dystrophy Renal insufficiency Pain Nystagmus Horizontal nystagmus Multicystic kidney dysplasia Aplasia of the uterus Progressive sensorineural hearing impairment Ovarian cyst Vaginal atresia Tetany Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Unilateral renal agenesis Nephrocalcinosis Psoriasiform dermatitis Polycystic kidney dysplasia Polycystic ovaries Abnormality of the urinary system Chronic kidney disease Hyperkinesis Ischemic stroke Multiple bladder diverticula



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Nephrotic syndrome, related diseases and genetic alterations Hepatomegaly and Apraxia, related diseases and genetic alterations Lymphoma and Pectus carinatum, related diseases and genetic alterations Brachydactyly and Intellectual disability, mild, related diseases and genetic alterations Myopathy and Hypopigmentation of the skin, related diseases and genetic alterations Dysarthria and Splenomegaly, related diseases and genetic alterations

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