Cleft palate, and Left ventricular hypertrophy

Diseases related with Cleft palate and Left ventricular hypertrophy

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


Top matches:

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium 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

Medium match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

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Other less relevant matches:

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Medium match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low match AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9


AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Low match MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX


X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Low match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Top 5 symptoms//phenotypes associated to Cleft palate and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Ventricular hypertrophy Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Motor delay Hypertelorism Depressed nasal bridge Intellectual disability Short stature Hypertrophic cardiomyopathy Cardiomyopathy Generalized hypotonia Hearing impairment Congestive heart failure Seizures Micrognathia Low-set ears Hernia Growth delay Ventricular septal defect Short neck Ptosis Feeding difficulties Dilatation Muscle weakness Flexion contracture Abnormality of the skeletal system Talipes equinovarus Abnormal heart morphology Wide nasal bridge Patent ductus arteriosus Retrognathia Inguinal hernia Joint laxity Sensorineural hearing impairment Severe global developmental delay Arachnodactyly Myopathy Mitral valve prolapse

Rare Symptoms - Less than 30% cases


Rod-cone dystrophy Pectus excavatum Cerebellar vermis hypoplasia Distal muscle weakness Proximal muscle weakness Epicanthus Hypertension Generalized muscle weakness Progressive muscle weakness Severe failure to thrive Gowers sign Frontal bossing Cataract Neonatal hypotonia Muscular hypotonia Hip dislocation Pectus carinatum Abnormal cardiac septum morphology Cardiomegaly Kyphoscoliosis Narrow mouth Cerebral cortical atrophy Glaucoma Brachycephaly Blue sclerae Respiratory distress Atrial septal defect Acidosis Edema Patent foramen ovale Cutis laxa Hydrops fetalis Rhizomelia Narrow forehead Microdontia Narrow chest Skeletal muscle atrophy Elevated hepatic transaminase Respiratory insufficiency Difficulty running Difficulty climbing stairs Midface retrusion Aortic dissection Pulmonic stenosis Pes planus Brachydactyly Decreased antibody level in blood Failure to thrive Microcephaly Bicuspid aortic valve Sepsis Hydrocephalus Aortic aneurysm Feeding difficulties in infancy Dilated cardiomyopathy Thoracic aortic aneurysm Delayed myelination Centrally nucleated skeletal muscle fibers Agenesis of corpus callosum Cleft lip Mitral regurgitation Cerebellar hypoplasia Umbilical hernia Osteoporosis Coarse facial features Pneumonia Atrial fibrillation Long philtrum Bifid uvula Hypertonia Adducted thumb Genu varum Focal-onset seizure Eosinophilia Intestinal malrotation Leukemia Finger syndactyly Malar flattening Abnormality of the kidney Hepatosplenomegaly Clinodactyly of the 5th finger Thrombocytopenia Hemangioma Intellectual disability, severe Anemia Tetralogy of Fallot Combined immunodeficiency Coarctation of aorta Spina bifida Aplasia/Hypoplasia of the corpus callosum Horseshoe kidney Coxa valga Strabismus Infantile muscular hypotonia Poor suck Increased body weight Recurrent bacterial infections Congenital sensorineural hearing impairment Albinism Short phalanx of finger Broad thumb Neurodevelopmental delay Macular atrophy Bronchitis Abnormal cortical gyration Abnormal immunoglobulin level Acute bronchitis Recurrent fungal infections Granulocytopenia Severe sensorineural hearing impairment Abnormal posturing IgG deficiency Aspiration pneumonia Depressed nasal tip Leukopenia Ocular albinism Renal tubular dysfunction Abnormality of the mandible Hypopigmentation of the fundus Cellular immunodeficiency Intracranial hemorrhage Fair hair Hypoplasia of the pons Chronic mucocutaneous candidiasis Hypoplasia of the thymus Recurrent viral infections Pontocerebellar atrophy Hypopigmentation of hair White matter neuronal heterotopia Abnormality of immune system physiology Severe T-cell immunodeficiency Penile hypospadias Renal tubular acidosis Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Optic neuropathy Decreased proportion of CD4-positive T cells Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Hypoplasia of the radius Intermittent thrombocytopenia Focal impaired awareness seizure Limb-girdle muscle weakness Areflexia Kyphosis Intellectual disability, mild Dysarthria Delayed speech and language development Cognitive impairment Limited extraocular movements Autophagic vacuoles Proximal muscle weakness in lower limbs Progressive proximal muscle weakness Dyspnea Hypoventilation Right bundle branch block Bundle branch block Myotonia Lower limb muscle weakness Limb muscle weakness Lethargy Muscular dystrophy Myalgia Elevated serum creatine phosphokinase Pes cavus Difficulty walking Left ventricular noncompaction Congenital contracture Axial muscle weakness Type 1 muscle fiber predominance Facial diplegia Hip contracture Abnormal heart valve morphology Exertional dyspnea Long fingers Generalized amyotrophy Ophthalmoparesis Bilateral ptosis Facial palsy Dysphonia EMG: myopathic abnormalities External ophthalmoplegia Respiratory insufficiency due to muscle weakness Scapular winging Waddling gait Long face Ophthalmoplegia Protruding ear Hyperlordosis Multiple pterygia Right ventricular hypertrophy Absent radius Seborrheic dermatitis Generalized tonic-clonic seizures with focal onset Lateral clavicle hook Phocomelia Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Fused cervical vertebrae Patellar aplasia Aplasia/Hypoplasia of the ulna Allergy Delayed CNS myelination Aplastic anemia Duodenal atresia Chromosome breakage Cardiorespiratory arrest Patellar dislocation Carpal synostosis Nevus flammeus Megalocornea Cervical ribs Abnormality of the shoulder Tricuspid regurgitation Shoulder muscle hypoplasia Pterygium Ventricular arrhythmia Cardiac arrest Arrhythmia Depressivity Paroxysmal atrial fibrillation Stroke Cow milk allergy Axial malrotation of the kidney Tetraphocomelia Meckel diverticulum Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Lymphopenia Renal malrotation Bilateral radial aplasia Aspiration Bilateral elbow dislocations Progressive microcephaly Craniosynostosis Ectodermal dysplasia Full cheeks Renal cyst Everted lower lip vermilion Stage 5 chronic kidney disease Smooth philtrum Dolichocephaly Blepharophimosis Sparse hair Abnormality of the pinna Postaxial hand polydactyly Telecanthus Proteinuria High forehead Polyhydramnios Polydactyly Upslanted palpebral fissure Clinodactyly Syndactyly Renal insufficiency Limb undergrowth Cholestasis Abnormality of the dentition Nephronophthisis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Cystic hygroma Mesomelia Hepatic fibrosis Sparse eyebrow Preaxial polydactyly Chronic kidney disease Widely spaced teeth Plagiocephaly Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Short ribs Splenomegaly Hepatomegaly Horizontal ribs Abnormality of the sternum Osteochondritis Dissecans Low back pain Spondylolisthesis Soft skin Dilatation of the cerebral artery Subarachnoid hemorrhage Striae distensae Abnormal joint morphology Slender finger Disproportionate tall stature Arterial tortuosity Back pain Aortic regurgitation Osteoarthritis Dental malocclusion Migraine Bruising susceptibility Camptodactyly Headache Pain Hip osteoarthritis Dural ectasia Skull asymmetry Thin vermilion border Periorbital fullness Protruding tongue Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Small nail Dandy-Walker malformation Macroglossia Wide mouth Abdominal aortic aneurysm Obesity Absent speech Hypoplasia of the corpus callosum Intrauterine growth retardation Cryptorchidism Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Protrusio acetabuli Portal fibrosis Metopic synostosis Decreased liver function Nystagmus Hypospadias Recurrent infections Immunodeficiency Cerebellar atrophy Ventriculomegaly Optic atrophy Hyperreflexia Peripheral neuropathy Spasticity Metacarpophalangeal joint hyperextensibility Respiratory failure Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Recurrent respiratory infections EEG abnormality Lumbar scoliosis Sleep disturbance Abnormality of retinal pigmentation Decreased body weight Heterotopia Open mouth Progressive neurologic deterioration Hypotelorism Triangular face Hypopigmentation of the skin Neutropenia High, narrow palate Muscular hypotonia of the trunk Thick vermilion border Wide nose Pulmonary hypoplasia Polymicrogyria Cleft upper lip Congenital cataract Joint stiffness Respiratory tract infection Postnatal growth retardation Knee dislocation Abnormality of the abdominal wall Fused teeth Talipes Abnormal lung morphology Low posterior hairline Congenital diaphragmatic hernia Webbed neck Esotropia Short metacarpal Recurrent fractures Thick eyebrow Flat face Genu valgum Lymphedema Abnormality of the foot Hypermetropia Microtia Osteopenia Proptosis Prominent forehead Delayed skeletal maturation Downslanted palpebral fissures Fever Amblyopia Meningitis Endocardial fibroelastosis Restrictive ventilatory defect Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Congenital glaucoma Elbow flexion contracture Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Hyperextensible skin Sandal gap Accelerated skeletal maturation Microretrognathia Joint dislocation EMG: decremental response of compound muscle action potential to repetitive nerve stimulation



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