Downslanted palpebral fissures, and Mitral valve prolapse

Diseases related with Downslanted palpebral fissures and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Mitral valve prolapse that can help you solving undiagnosed cases.


Top matches:

High match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


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

High match NOONAN SYNDROME 3; NS3


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

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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Other less relevant matches:

High match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

High match GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

High match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

High match NEONATAL MARFAN SYNDROME


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

High match LOEYS-DIETZ SYNDROME


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

High match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

High match 6Q25 MICRODELETION 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

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Mitral valve prolapse

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Pes planus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Arachnodactyly Talipes equinovarus Dolichocephaly Intellectual disability Growth delay Pectus excavatum Patent ductus arteriosus Epicanthus Frontal bossing Aortic root aneurysm Inguinal hernia Ectopia lentis Tall stature Low-set ears Retrognathia Macrocephaly Anteverted nares Blue sclerae Ventricular septal defect Bruising susceptibility Motor delay Wide nasal bridge Abnormal heart morphology Joint hypermobility Smooth philtrum Generalized hypotonia Craniosynostosis Talipes Mitral regurgitation Midface retrusion Hernia Dilatation Neonatal hypotonia Patent foramen ovale Atrial septal defect Proptosis Ptosis Micrognathia Muscular hypotonia Pectus carinatum

Rare Symptoms - Less than 30% cases


Aortic aneurysm Camptodactyly of finger Cutis laxa Bifid uvula High myopia High, narrow palate Arthrogryposis multiplex congenita Sensorineural hearing impairment Abnormality of the sternum Aortic dissection Joint laxity Spondylolisthesis Arterial tortuosity Arterial dissection Cleft palate Hydrocephalus Intrauterine growth retardation Failure to thrive Reduced subcutaneous adipose tissue Increased arm span Malar flattening Upslanted palpebral fissure Hearing impairment Intellectual disability, mild Deeply set eye Short palpebral fissure Overgrowth Triangular face Renal cyst Abnormality of the pinna Flexion contracture Agenesis of corpus callosum Scoliosis Hyporeflexia Ventriculomegaly Feeding difficulties Microcephaly Small for gestational age Tricuspid regurgitation Emphysema Dural ectasia Abnormality of the skeletal system Renal dysplasia Wide mouth Myopia Short nose Strabismus Pulmonic stenosis Deep philtrum Brachycephaly Low-set, posteriorly rotated ears Long philtrum Coarse facial features Telecanthus Protruding ear Adducted thumb Scaphocephaly Posteriorly rotated ears Joint dislocation Subarachnoid hemorrhage Joint hyperflexibility Thoracic aortic aneurysm Pneumothorax Cardiomyopathy Oral cleft Striae distensae Abnormal bleeding Atypical scarring of skin High forehead Thin skin Cardiac arrest Dilatation of the cerebral artery Bicuspid aortic valve Hyperkeratosis Sparse hair Fragile skin Broad forehead Long fingers Bilateral ptosis Hemangioma Fine hair Decreased testicular size Heart murmur Neonatal respiratory distress Ichthyosis Peripheral axonal neuropathy Lipoatrophy Talipes calcaneovarus Megalocornea Hypoxemia Abnormal echocardiogram Long toe Enlarged thorax Ascending tubular aorta aneurysm Tricuspid valve prolapse Iridodonesis Abnormal cardiac ventricle morphology Crumpled ear Kyphoscoliosis Short neck Plagiocephaly Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Thin upper lip vermilion Abnormality of the eye Facial asymmetry Small hand Full cheeks Interphalangeal joint contracture of finger Abnormality of vision Seizures Redundant skin Rocker bottom foot Mild short stature Thoracic hypoplasia External genital hypoplasia Anteriorly placed anus Shallow orbits Ventricular extrasystoles Secundum atrial septal defect Respiratory distress Cervical spine instability Uterine rupture Atrioventricular block Peripheral neuropathy Absent eyebrow Abnormal cardiac septum morphology Long face Syncope Osteoarthritis Exotropia Joint contracture of the hand Aortic regurgitation Cerebral hemorrhage Bilateral coxa valga Decreased muscle mass Celiac disease Long palpebral fissure Soft skin Hiatus hernia Broad face Cleft soft palate Graves disease Ascending aortic dissection Sparse eyebrow Varicose veins Curly hair Muscle weakness Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Narrow palm Prominent scalp veins Myopathy Pain Dysplastic pulmonary valve Severe intrauterine growth retardation Atrial septal dilatation Respiratory insufficiency Hypoplasia of the corpus callosum Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Hydronephrosis Cystic hygroma Narrow nose Cerebral atrophy Poor speech Generalized muscle weakness Hypoplasia of the musculature Bilateral talipes equinovarus Hyperextensible skin Hypertension Delayed gross motor development Prominent forehead Gastroesophageal reflux Dental crowding Prominent nasal bridge Narrow mouth Scarring Premature birth Oligohydramnios Camptodactyly Increased body weight Myalgia Relative macrocephaly Lipodystrophy Arthralgia Hypermetropia Pterygium Bifid ureter Spina bifida occulta Astigmatism Thick vermilion border Neutropenia Macroglossia Round face Intestinal malrotation Arthropathy Spina bifida Nephroblastoma Neuropathic arthropathy Large hands Bowing of the legs Large for gestational age Enlarged kidney Long foot Facial hypotonia Retinal coloboma Long hallux Renal malrotation Coloboma Macrotia Webbed neck Delayed ability to walk Growth hormone deficiency Coarctation of aorta Leukemia Hypertrophic cardiomyopathy Pointed chin Narrow palate Flat occiput Hypoplastic left heart Inverted nipples Cognitive impairment Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Infra-orbital crease Polyhydramnios Neoplasm Abnormality of nervous system morphology



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