Low-set ears, and Mitral valve prolapse

Diseases related with Low-set ears and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Low-set ears and Mitral valve prolapse that can help you solving undiagnosed cases.

Top matches:

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Other less relevant matches:

Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Mitral valve prolapse

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Anteverted nares Downslanted palpebral fissures Tricuspid regurgitation Dolichocephaly Ptosis Ventricular septal defect Hearing impairment Generalized hypotonia Wide nasal bridge Posteriorly rotated ears Micrognathia Short neck Pulmonic stenosis Pectus excavatum Webbed neck Scoliosis Flexion contracture Long philtrum Pes planus Mandibular prognathia Kyphoscoliosis Triangular face Depressed nasal bridge Abnormality of cardiovascular system morphology Muscular hypotonia Abnormal facial shape Pectus carinatum Abnormality of the skeletal system Sensorineural hearing impairment Kyphosis Seizures Frontal bossing Growth delay Coarse facial features Macrocephaly Abnormality of the pinna Joint hyperflexibility Broad forehead Proptosis Low-set, posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Cutis laxa Neonatal hypotonia Bundle branch block Bilateral cryptorchidism Wide mouth Thickened skin Camptodactyly of finger Hyperplasia of the maxilla Smooth philtrum Decreased body weight Thoracolumbar kyphosis Hip dysplasia Broad nasal tip Full cheeks Umbilical hernia Abnormal heart morphology Long toe Clinodactyly of the 5th finger Prominent forehead Intellectual disability, mild Inguinal hernia Megalocornea Short philtrum Motor delay Intrauterine growth retardation Deeply set eye Dental crowding Long fingers Shield chest Dysplastic aortic valve Heart murmur Joint laxity Myopia Hernia External genital hypoplasia Thick vermilion border Abnormality of the face Curly hair Arrhythmia Brachycephaly Osteopenia Osteoporosis Cognitive impairment Epicanthus Delayed skeletal maturation Thin vermilion border Short nose Patent ductus arteriosus Hypertrophic cardiomyopathy Mitral regurgitation Beaking of vertebral bodies Interphalangeal joint contracture of finger Talipes equinovarus Hyperextensible skin Hyperkeratosis Joint stiffness Cryptorchidism Nystagmus High forehead Edema Abnormality of the cardiovascular system Optic atrophy Hepatosplenomegaly Tachycardia Aggressive behavior Hyperactivity Developmental regression Behavioral abnormality Postnatal growth retardation Dyspnea Cyanosis Hepatomegaly Macroglossia Ascites Limitation of joint mobility Fine hair Numerous nevi Neuroblastoma Subcutaneous nodule Left ventricular hypertrophy Cafe-au-lait spot Scapular winging Spina bifida occulta Melanoma Myelodysplasia Abnormality of the voice Melanocytic nevus Abnormality of the ear Decreased fertility Atrioventricular canal defect Freckling Multiple cafe-au-lait spots Severe sensorineural hearing impairment Hypoplasia of the ovary Sprengel anomaly Premature skin wrinkling Right ventricular hypertrophy Wolff-Parkinson-White syndrome Pulmonary arterial hypertension Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of the pulmonary artery Excessive wrinkled skin Multiple lentigines Abnormal endocardium morphology Abnormal pulmonary valve morphology Redundant neck skin Inspiratory stridor Recurrent otitis media Wormian bones Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Osteolysis Short chin Gynecomastia Metatarsus adductus Wide anterior fontanel Gingival overgrowth Short phalanx of finger Bowing of the long bones Dental malocclusion Delayed eruption of teeth Single transverse palmar crease Flat occiput Flared metaphysis Short palm Anterior segment developmental abnormality Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Broad alveolar ridges Vacuolated lymphocytes Buphthalmos Delayed cranial suture closure Concave nasal ridge Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Aseptic necrosis Congenital glaucoma Hirsutism Genu valgum Progressive hearing impairment Abnormality of the skull J-shaped sella turcica Abnormality of the optic disc Hypochromic anemia Myocardial infarction Increased mean corpuscular volume Communicating hydrocephalus Edema of the lower limbs Insomnia Morphological abnormality of the central nervous system Protuberant abdomen Distal arthrogryposis Protruding tongue Pericardial effusion Recurrent upper respiratory tract infections Increased intracranial pressure Tachypnea Obstructive lung disease Heparan sulfate excretion in urine Corneal opacity Brachydactyly Protruding ear Camptodactyly Skeletal dysplasia Respiratory failure Glaucoma Congestive heart failure Intellectual disability, severe Abnormality of nasopharyngeal adenoids Urinary glycosaminoglycan excretion Localized skin lesion Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Abnormality of the genital system Facial asymmetry Tetralogy of Fallot Decreased testicular size Hand clenching Hypoplasia of the musculature Wide nasal base Narrow naris Biventricular hypertrophy Hypoplastic heart Abnormal heart valve morphology Feeding difficulties Aortic valve stenosis Hyporeflexia Small for gestational age Arachnodactyly Joint hypermobility High, narrow palate High myopia Broad columella Abnormal echocardiogram Talipes calcaneovarus Abnormal cardiac ventricle morphology Iridodonesis Tricuspid valve prolapse Ascending tubular aorta aneurysm Enlarged thorax Hypoxemia Blue sclerae Aortic root aneurysm Lipoatrophy Emphysema Neonatal respiratory distress Ectopia lentis Adducted thumb Pneumothorax Entropion Increased arm span Cystic hygroma Bilateral ptosis Sparse eyebrow Absent eyebrow Arthropathy Neuropathic arthropathy Strabismus Ichthyosis Peripheral axonal neuropathy Sparse hair Polyhydramnios Craniosynostosis Leukemia Deep philtrum Pterygium Scaphocephaly Reduced subcutaneous adipose tissue Convex nasal ridge Disproportionate tall stature Right bundle branch block Laryngomalacia Aortic regurgitation Knee flexion contracture Pointed chin Peripheral neuropathy Sagittal craniosynostosis Cardiomyopathy Dysplastic pulmonary valve Atrial septal dilatation Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Crumpled ear Abnormality of the skin Specific learning disability Plagiocephaly Microcephaly Failure to thrive Cleft palate Ventriculomegaly Respiratory distress Hydrocephalus Malar flattening Agenesis of corpus callosum Upslanted palpebral fissure Thin upper lip vermilion Abnormality of the eye Hemangioma Small hand Short palpebral fissure Abnormality of vision Aplasia/Hypoplasia of the lens Secundum atrial septal defect Nevus Delayed puberty Abnormality of the kidney Hypospadias Dilatation Abnormality of nervous system morphology Ventricular extrasystoles Redundant skin Shallow orbits Anteriorly placed anus Thoracic hypoplasia Mild short stature Rocker bottom foot Patent foramen ovale Left hemiplegia Abnormality of the intervertebral disk Prominent nose Lumbar hyperlordosis Muscle weakness Cataract Spasticity Visual impairment Long face Microphthalmia Depressivity Visual loss Hyperlordosis Abnormal cardiac septum morphology Platyspondyly Congenital cataract Unsteady gait Retinal detachment Low posterior hairline Unilateral cryptorchidism Posterior subcapsular cataract Thickened helices Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormality of the antihelix Abnormal eyebrow morphology Thoracic kyphosis Amblyopia Iris hypopigmentation Subcapsular cataract Preauricular pit Hemiplegia Increased susceptibility to fractures Accelerated skeletal maturation Anterior concavity of thoracic vertebrae


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