Low-set ears, and Agenesis of corpus callosum

Diseases related with Low-set ears and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Low-set ears and Agenesis of corpus callosum that can help you solving undiagnosed cases.


Top matches:

High match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

High match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

High match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

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Other less relevant matches:

High match LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME


Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Low-set ears
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME

High match AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME


Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.

Related symptoms:

  • Respiratory distress
  • Agenesis of corpus callosum
  • Narrow mouth
  • Polyhydramnios
  • Low-set, posteriorly rotated ears


SOURCES: ORPHANET MENDELIAN

More info about AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME

High match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME


SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

High match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

High 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

High match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Low-set ears and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set, posteriorly rotated ears Intrauterine growth retardation Growth delay Polyhydramnios Strabismus

Rare Symptoms - Less than 30% cases


Deeply set eye Intellectual disability, mild Cleft palate Intellectual disability Hydrocephalus Microphthalmia Abnormality of cardiovascular system morphology Oligohydramnios Cerebellar hypoplasia Scrotal hypoplasia Micromelia Bifid uvula Microcephaly Intellectual disability, moderate Wide nasal bridge Holoprosencephaly Situs inversus totalis Ambiguous genitalia Aplasia/Hypoplasia of the corpus callosum Acidosis Ventriculomegaly Frontal bossing Brachydactyly Malar flattening Bruising susceptibility Conical tooth Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Calvarial skull defect Broad philtrum Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Flexion contracture Ventricular septal defect Atrial septal defect Congestive heart failure Abnormal heart morphology Coronal craniosynostosis Sandal gap Oral cleft Wide intermamillary distance Syndactyly Partial agenesis of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Abnormality of the skeletal system Midface retrusion Postaxial polydactyly Hypospadias Polydactyly Micropenis Cleft lip Abnormality of the pinna Cleft upper lip Agenesis of cerebellar vermis Pulmonic stenosis Abnormal cardiac septum morphology Dextrocardia Anal atresia Bilateral trilobed lungs Abnormality of the dentition Depressed nasal bridge Left atrial isomerism Nystagmus Poor coordination Hepatocellular carcinoma Heterotopia Right atrial isomerism Upslanted palpebral fissure Seizures Hyperreflexia Tremor Talipes equinovarus Behavioral abnormality Aciduria Abnormality of metabolism/homeostasis Carcinoma Alopecia Single ventricle Asthma Polysplenia Encephalocele Fine hair Underdeveloped nasal alae Telecanthus Brachycephaly Hypogonadism Atrioventricular canal defect Abnormal lung lobation Choanal stenosis Common atrium Asplenia Pulmonary artery atresia Complete atrioventricular canal defect Anomalous pulmonary venous return Low anterior hairline Heterotaxy Total anomalous pulmonary venous return Biliary atresia Abdominal situs inversus Intellectual disability, severe Long eyelashes Molar tooth sign on MRI Hip dislocation Genu valgum Brain atrophy Osteoarthritis Abnormality of epiphysis morphology Lymphedema Joint dislocation Epiphyseal dysplasia Multiple epiphyseal dysplasia Pectus carinatum Enlarged joints Retrognathia Premature birth Postaxial hand polydactyly Laryngomalacia Anophthalmia Absent septum pellucidum Submucous cleft hard palate Finger syndactyly Inguinal hernia Abnormality of the respiratory system Metabolic acidosis Edema Patent ductus arteriosus Elevated hepatic transaminase Neonatal hypotonia Feeding difficulties in infancy Small for gestational age Lethargy Lactic acidosis Increased serum lactate Clinodactyly Redundant skin Hypokinesia Redundant neck skin Motor delay Macrocephaly Short neck Obesity Pectus excavatum Anencephaly Arrhinencephaly Thick lower lip vermilion Protruding ear Narrow internal auditory canal Absent nares Synotia Global developmental delay Ataxia Hypertonia Absent speech Posteriorly rotated ears Sparse hair Mandibular aplasia Poor speech Thick eyebrow Hirsutism Everted lower lip vermilion Highly arched eyebrow Abnormal cerebellum morphology Narrow forehead Cerebellar vermis hypoplasia Aplasia/Hypoplasia involving the nose Cyclopia Unilateral cleft lip Renal hypoplasia Abnormality of the sense of smell Abnormality of the fallopian tube Tracheal atresia Gingival cleft Abnormality of the kidney Arthrogryposis multiplex congenita Renal agenesis Sloping forehead Rocker bottom foot Abnormal cranial nerve morphology Vaginal atresia Cerebral hypoplasia Respiratory distress Narrow mouth Abnormality of the eye Hypoplasia of penis Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the eyebrow Microglossia Bifid nose



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