Epicanthus, and Pulmonic stenosis

Diseases related with Epicanthus and Pulmonic stenosis

In the following list you will find some of the most common rare diseases related to Epicanthus and Pulmonic stenosis that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

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:

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Top 5 symptoms//phenotypes associated to Epicanthus and Pulmonic stenosis

Symptoms // Phenotype % cases
Atrial septal defect Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Pulmonic stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Webbed neck

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Cryptorchidism Abnormal facial shape Ventricular septal defect Short neck Patent ductus arteriosus Depressed nasal bridge Delayed speech and language development Leukemia Seizures Scoliosis Polyhydramnios Posteriorly rotated ears Wide intermamillary distance Abnormal heart morphology High palate Malar flattening Curly hair Relative macrocephaly Micrognathia Feeding difficulties Growth delay Wide nasal bridge Hearing impairment Generalized hypotonia

Rare Symptoms - Less than 30% cases

Cubitus valgus Abnormal cardiac septum morphology Deep philtrum Cataract Cystic hygroma Edema Short nose Pectus excavatum of inferior sternum Abnormality of the sternum Flexion contracture Acute lymphoblastic leukemia Respiratory distress Midface retrusion Hernia Low posterior hairline Telecanthus Cleft palate Anteverted nares Epiphyseal stippling Hyperkeratosis High forehead Microcephaly Broad forehead Cardiomyopathy Upslanted palpebral fissure Cafe-au-lait spot Secundum atrial septal defect Sensorineural hearing impairment Abnormality of the pinna Juvenile myelomonocytic leukemia Broad neck Cognitive impairment Severe global developmental delay Frontal bossing Tracheoesophageal fistula Stenosis of the external auditory canal Preaxial hand polydactyly Cupped ear Pierre-Robin sequence Slender finger Glossoptosis Proximal placement of thumb Calcific stippling of infantile cartilaginous skeleton Esophageal atresia Bilateral cleft palate Progressive microcephaly Overfolded helix Bifid uvula Conductive hearing impairment Feeding difficulties in infancy Coloboma Microtia Facial asymmetry Bulbous nose Everted lower lip vermilion Hypoplasia of the maxilla Delayed myelination Trigonocephaly Choanal atresia Postnatal microcephaly Coronal cleft vertebrae Preauricular skin tag Bicuspid aortic valve Abnormality of the outer ear Atresia of the external auditory canal Radioulnar synostosis Abnormality of the antihelix Severe failure to thrive Skin tags Abnormality of the metaphysis Ichthyosis Flat face Polymicrogyria Pulmonary hypoplasia Short distal phalanx of finger Limitation of joint mobility Limb undergrowth Congenital diaphragmatic hernia Abnormality of epiphysis morphology Delayed skeletal maturation Concave nasal ridge Rhizomelia Spina bifida occulta Epiphyseal dysplasia Congenital contracture Polysplenia Flared metaphysis Sparse body hair Dry skin Congenital cataract Large earlobe Pain Abnormal renal morphology Moderate global developmental delay Mandibulofacial dysostosis Accessory oral frenulum Prominent glabella Underdeveloped tragus Morphological abnormality of the middle ear Absent tragus Spasticity Cleft lip Respiratory insufficiency Intellectual disability, severe Abnormality of the dentition Abnormality of metabolism/homeostasis Delayed CNS myelination Alopecia Severe short stature Cerebral cortical atrophy Kyphoscoliosis Multiple epiphyseal dysplasia Prolonged bleeding time Absent speech Umbilical hernia Myeloproliferative disorder Hypoplastic nasal bridge Atrial septal dilatation Dysplastic pulmonary valve Optic atrophy Ventriculomegaly Blindness Jaundice Scaphocephaly Developmental regression Coarctation of aorta Cerebral visual impairment Absence seizures Hypoplastic left heart Double outlet right ventricle Tethered cord Sagittal craniosynostosis Pterygium Hepatomegaly Intellectual disability, mild Arrhythmia Prominent forehead Mandibular prognathia Wide mouth Thick vermilion border Motor delay Myopia Sparse hair Mitral valve prolapse Growth hormone deficiency Bilateral ptosis Asymmetry of the thorax Long eyebrows Strabismus Pectus excavatum Craniosynostosis Dolichocephaly Muscular hypotonia Congestive heart failure Abnormality of cardiovascular system morphology Ventricular hypertrophy Axillary freckling Superior pectus carinatum Prominent nasolabial fold Optic nerve glioma Inguinal freckling Failure to thrive Abnormality of the cardiovascular system Left ventricular hypertrophy Multiple cafe-au-lait spots Hyperpigmentation of the skin Hyperextensible skin Systemic lupus erythematosus Pleural effusion Graves disease Chylothorax Palmoplantar cutis laxa Lisch nodules Freckling Areflexia Dental malocclusion Round face Prominent nose Decreased fetal movement Perimembranous ventricular septal defect Right aortic arch Generalized neonatal hypotonia Low-set, posteriorly rotated ears Thick lower lip vermilion Neurofibromas Sparse and thin eyebrow Sparse eyebrow Bilateral cryptorchidism Abnormality of coagulation Blue irides High anterior hairline Muscle weakness Specific learning disability Pregnancy exposure


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