Epicanthus, and Abnormal cardiac septum morphology

Diseases related with Epicanthus and Abnormal cardiac septum morphology

In the following list you will find some of the most common rare diseases related to Epicanthus and Abnormal cardiac septum morphology 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

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

Other less relevant matches:

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

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

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

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Top 5 symptoms//phenotypes associated to Epicanthus and Abnormal cardiac septum morphology

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Atrial septal defect Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Abnormal cardiac septum morphology. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Short stature Seizures Ptosis Low-set ears Macrocephaly Abnormal facial shape Microcephaly Pulmonic stenosis Sparse eyebrow Spasticity Growth delay Webbed neck Depressed nasal bridge Generalized hypotonia Strabismus Hypertrophic cardiomyopathy Short neck Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Craniosynostosis Narrow mouth Micrognathia Curly hair Scoliosis Ventriculomegaly Sparse hair Polyhydramnios Cataract Leukemia High palate Feeding difficulties Scaphocephaly Cognitive impairment Wide nasal bridge Upslanted palpebral fissure Prominent forehead Short philtrum Muscular hypotonia Congenital cataract Patent ductus arteriosus Juvenile myelomonocytic leukemia Cubitus valgus Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Cystic hygroma Pterygium Deep philtrum Mitral valve prolapse Dolichocephaly Bilateral cryptorchidism Pectus excavatum Dysplastic pulmonary valve Short nose Anteverted nares Abnormality of coagulation Prolonged bleeding time Blue irides Frontal bossing Everted lower lip vermilion Aplasia of the inferior half of the cerebellar vermis Small cerebral cortex High anterior hairline Periventricular leukomalacia Mild microcephaly Delayed ability to walk Atrial septal dilatation Sparse and thin eyebrow Low-set, posteriorly rotated ears Hydronephrosis Hypospadias Dilatation Kyphosis Hypoplasia of the corpus callosum Cleft palate Nevus Tented upper lip vermilion Nevus flammeus Cryptorchidism Generalized neonatal hypotonia Right aortic arch Dental malocclusion Hepatomegaly Perimembranous ventricular septal defect Secundum atrial septal defect Epiphyseal stippling Decreased fetal movement Prominent nose Round face Wide intermamillary distance Severe global developmental delay Broad forehead Thick lower lip vermilion High forehead Areflexia Microcornea Congestive heart failure Chromosome breakage Abnormality of digit Long philtrum Ectodermal dysplasia Hematuria Abnormality of the kidney Proteinuria Abnormality of the dentition Thickened helices Wolff-Parkinson-White syndrome Broad hallux phalanx Broad thumb Full cheeks Hypoplasia of the maxilla Pectus carinatum Microtia Malar flattening Dry hair Cerebellar vermis hypoplasia Spastic diplegia Cupped ear Brittle hair Narrow face Macroglossia Triangular face Long face Nail dystrophy Protruding ear Abnormality of the sternum Thick vermilion border Wide mouth Mandibular prognathia Arrhythmia Dandy-Walker malformation Sparse eyelashes Joint hypermobility Nephroblastoma Camptodactyly Telecanthus Thin upper lip vermilion Agenesis of corpus callosum Abnormal heart morphology Clinodactyly Delayed speech and language development Chromosomal breakage induced by crosslinking agents Embryonal neoplasm Medulloblastoma Acute monocytic leukemia Aplastic anemia Neuroblastoma Acute myeloid leukemia Bone marrow hypocellularity Trigonocephaly Hyperpigmentation of the skin Cafe-au-lait spot Short thumb Anal atresia Small for gestational age Postnatal growth retardation Abnormality of cardiovascular system morphology Anemia Failure to thrive Neoplasm Posterior fossa cyst Tubulointerstitial nephritis Hypoplastic toenails Nephritis Pectus excavatum of inferior sternum


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