Low-set ears, and Atrial septal defect

Diseases related with Low-set ears and Atrial septal defect

In the following list you will find some of the most common rare diseases related to Low-set ears and Atrial septal defect 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

Medium match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Other less relevant matches:

Medium match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK 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

Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Top 5 symptoms//phenotypes associated to Low-set ears and Atrial septal defect

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Downslanted palpebral fissures Anteverted nares Ventricular septal defect Macrocephaly Generalized hypotonia Posteriorly rotated ears Low-set, posteriorly rotated ears Webbed neck Prominent forehead Wide mouth Polyhydramnios Short neck Ptosis

Rare Symptoms - Less than 30% cases

Dolichocephaly Deep philtrum Strabismus Mitral valve prolapse Abnormal heart morphology Coarse facial features Agenesis of corpus callosum Abnormal cardiac septum morphology Anal atresia Broad forehead Situs inversus totalis Cognitive impairment Patent ductus arteriosus Myopia High palate Feeding difficulties Scoliosis Epicanthus Seizures Mandibular prognathia Thin upper lip vermilion Frontal bossing Hypertrophic cardiomyopathy Hyperlordosis Laryngeal hypoplasia Proboscis Fever Alobar holoprosencephaly Behavioral abnormality Vomiting Constipation Hyperactivity Hypoplasia of the epiglottis Autism Gastroesophageal reflux Aglossia Hydrocephalus Synotia Short columella Premature birth Tall stature Narrow palpebral fissure Round face Thick eyebrow Blepharophimosis Long palpebral fissure Maternal diabetes Overgrowth Everted upper lip vermilion Premature rupture of membranes Pain Umbilical hernia Hernia Delayed speech and language development Brachydactyly Anxiety Scaphocephaly Autistic behavior Aminoaciduria Immunodeficiency Recurrent respiratory infections Abnormality of the liver Hematuria Neutropenia Aciduria Hip dysplasia Meningitis Abnormality of the ureter Wide nasal bridge Abnormal toenail morphology Anisocytosis Megaloblastic anemia Poikilocytosis Impaired T cell function Oroticaciduria Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Splenomegaly Anemia Attention deficit hyperactivity disorder Craniosynostosis Hypermetropia Small hand Short foot Small nail Broad-based gait Obsessive-compulsive behavior Short nose Pectus excavatum Leukemia Failure to thrive Pterygium Cystic hygroma Hyperplasia of the maxilla Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Mandibular aplasia Hearing impairment Stenosis of the external auditory canal Abnormality of cardiovascular system morphology Poor suck Mild short stature Thickened helices Growth delay Flexion contracture Intrauterine growth retardation Congestive heart failure Ambiguous genitalia Narrow forehead Dextrocardia Atrioventricular canal defect Abnormal lung lobation Polysplenia Choanal stenosis Asplenia Pulmonary artery atresia Complete atrioventricular canal defect Hyperpigmentation of the skin Pectus carinatum Abdominal situs inversus Abnormality of metabolism/homeostasis Arrhythmia Thick vermilion border Abnormality of the sternum Muscular hypotonia Optic atrophy Intellectual disability, severe Blindness Brachycephaly Abnormality of the skeletal system Prominent nasal bridge Abnormality of the skin Intellectual disability, profound Clitoral hypertrophy Congenital blindness Fused labia minora Depressed nasal bridge Dysphagia Anomalous pulmonary venous return Heterotaxy Microglossia Abnormality of the eye Micrognathia Cleft palate Talipes equinovarus Respiratory distress Narrow mouth Retrognathia Conductive hearing impairment Pulmonary hypoplasia Arthropathy Hypoplasia of the maxilla Intestinal malrotation Hypotelorism Holoprosencephaly Abnormality of the outer ear Atresia of the external auditory canal Transposition of the great arteries Tracheomalacia Neuropathic arthropathy Curly hair Total anomalous pulmonary venous return Hyperkeratosis Biliary atresia Common atrium Single ventricle Left atrial isomerism Bilateral trilobed lungs Right atrial isomerism Peripheral neuropathy Cardiomyopathy Proptosis Absent eyebrow High forehead Sparse hair Peripheral axonal neuropathy Ichthyosis Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Reduced orotidine 5-prime phosphate decarboxylase activity


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