Epicanthus, and Patent ductus arteriosus

Diseases related with Epicanthus and Patent ductus arteriosus

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


Top matches:

Medium match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Medium 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

Medium match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A


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 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Medium match NOONAN SYNDROME 8; NS8


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

Medium 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

Medium match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium 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

Medium match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Top 5 symptoms//phenotypes associated to Epicanthus and Patent ductus arteriosus

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Epicanthus and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing Generalized hypotonia Low-set ears Scoliosis Atrial septal defect Global developmental delay Ventricular septal defect Downslanted palpebral fissures Macrocephaly Intellectual disability Seizures Webbed neck Pulmonic stenosis Cryptorchidism Abnormal heart morphology Anteverted nares Polyhydramnios Upslanted palpebral fissure Wide nasal bridge Microcephaly Abnormality of the pinna Retrognathia Coarctation of aorta Cleft palate

Rare Symptoms - Less than 30% cases


Triangular face Short neck Hepatomegaly Growth delay Double outlet right ventricle Hypoplastic left heart Umbilical hernia Hernia Neonatal hypotonia Hyperextensible skin Cardiomyopathy Pointed chin Dental malocclusion Depressed nasal bridge Myopia Brachydactyly Low hanging columella Cleft lip Blue sclerae Short palpebral fissure Hyperkeratosis Mesomelia Telecanthus Pes planus Respiratory insufficiency Talipes equinovarus Ventriculomegaly Abnormal cardiac septum morphology Respiratory distress Horseshoe kidney Scaphocephaly Leukemia Cystic hygroma Mitral valve prolapse Polydactyly Hypertrophic cardiomyopathy Postaxial polydactyly Renal cyst Cognitive impairment Short nose Feeding difficulties Hydrocephalus Flexion contracture Deep philtrum Agenesis of permanent teeth Thoracic dysplasia Vaginal atresia Complete atrioventricular canal defect Tricuspid regurgitation Median cleft lip Cleft upper lip Anteriorly placed anus Short clavicles Pulmonary artery atresia Gingival overgrowth Hypoplastic right heart Spinal canal stenosis Sensorineural hearing impairment Muscle weakness Muscular hypotonia Motor delay Skeletal muscle atrophy Patent foramen ovale Broad thumb Short phalanx of finger Hypoplasia of the epiglottis Long nose Mild microcephaly High anterior hairline Perimembranous ventricular septal defect Velopharyngeal insufficiency Endometriosis Left-to-right shunt Muscular ventricular septal defect Thin lower lip vermilion Micrognathia Hydrometrocolpos Horizontal ribs Kyphosis Long philtrum Midface retrusion Clinodactyly Proptosis Downturned corners of mouth Bilateral postaxial polydactyly Myopathy Accessory oral frenulum Long eyelashes Gait disturbance Osteopenia Inguinal hernia Small nail Follicular hyperkeratosis Cleft soft palate Overlapping toe Keloids High-frequency sensorineural hearing impairment Cutaneous syndactyly Arterial rupture Abnormal eye morphology Short ribs Aortic rupture Atrophic scars Postaxial hand polydactyly Limb undergrowth Splenomegaly Syndactyly Nail dysplasia Skeletal dysplasia Hepatosplenomegaly Narrow chest Hypodontia Oral cleft Soft skin Difficulty climbing stairs Increased number of teeth Microcornea Elevated serum creatine phosphokinase Kyphoscoliosis Scarring Muscular dystrophy Abnormality of the foot Hamartoma Metaphyseal dysplasia Joint hypermobility Atrioventricular canal defect Bruising susceptibility Cone-shaped epiphysis Disproportionate tall stature Waddling gait Sloping forehead Hypotelorism Severe muscular hypotonia Cutis laxa Poor head control Easy fatigability Poor suck Increased susceptibility to fractures Congenital muscular dystrophy Bladder diverticulum Wide mouth Unilateral renal agenesis Peripheral demyelination Developmental regression Wide intermamillary distance Cerebral visual impairment Absence seizures Tethered cord Cerebral atrophy Elevated hepatic transaminase Hepatic failure Sepsis Prominent nose Decreased fetal movement Blindness Decreased body weight Wide anterior fontanel Hyperbilirubinemia Cholelithiasis Central hypotonia Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness CNS demyelination Jaundice Optic atrophy Elevated long chain fatty acids Strabismus Hypospadias Micropenis Encephalocele Heterotopia Exotropia Narrow palpebral fissure Sacral dimple Molar tooth sign on MRI Occipital encephalocele Anencephaly High palate Dysplastic pulmonary valve Pectus excavatum Posteriorly rotated ears Craniosynostosis Dolichocephaly Pterygium Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Cranial asymmetry Abnormality of the hairline Premature ovarian insufficiency Infra-orbital crease Renal dysplasia Narrow palate Flat occiput Delayed ability to walk Inverted nipples Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Abnormality of the dentition Smooth philtrum Intellectual disability, mild High forehead Deeply set eye Camptodactyly Blepharophimosis Broad forehead Carious teeth Anal atresia Renal agenesis Recurrent urinary tract infections Growth hormone deficiency Talipes Abnormality of the male genitalia Pleural effusion Failure to thrive Delayed speech and language development Edema Abnormality of the cardiovascular system Ventricular hypertrophy Low posterior hairline Left ventricular hypertrophy Hyperpigmentation of the skin Relative macrocephaly Systemic lupus erythematosus Abnormality of the sternum Poor speech Curly hair Acute lymphoblastic leukemia Graves disease Chylothorax Palmoplantar cutis laxa Hypoplasia of the corpus callosum Agenesis of corpus callosum Coarse facial features Hydronephrosis Hypermetropia Partial atrioventricular canal defect



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Anxiety, related diseases and genetic alterations High palate and Nephrotic syndrome, related diseases and genetic alterations Ptosis and Corneal opacity, related diseases and genetic alterations Obesity and Abnormality of the nervous system, related diseases and genetic alterations Seizures and Proteinuria, related diseases and genetic alterations Nystagmus and Scarring, related diseases and genetic alterations Depressed nasal bridge and Apnea, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more