Low-set ears, and Ventriculomegaly

Diseases related with Low-set ears and Ventriculomegaly

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

Top matches:

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

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Other less relevant matches:

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY 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).Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H, for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Is also known as fa2|facb|fanconi pancytopenia, type 2

Related symptoms:

  • Growth delay
  • Neoplasm
  • Low-set ears
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB

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

Medium match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Top 5 symptoms//phenotypes associated to Low-set ears and Ventriculomegaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly 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 Ventriculomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Wide nasal bridge Ataxia Generalized hypotonia Growth delay Tapered finger Chorea

Rare Symptoms - Less than 30% cases

Polydactyly Intellectual disability, profound Delayed speech and language development Visual impairment Motor delay Agenesis of corpus callosum Syndactyly Encephalopathy Gait ataxia Epileptic encephalopathy Narrow forehead Cerebral visual impairment Micrognathia Cleft palate Intrauterine growth retardation Brain atrophy Cognitive impairment Edema Hyperreflexia Cerebellar atrophy Cerebral atrophy Dystonia Delayed myelination Status epilepticus Progressive microcephaly Brachydactyly Hydrocephalus Postaxial polydactyly Deeply set eye Micropenis High palate Cerebellar vermis atrophy Feeding difficulties Cerebellar hypoplasia Spasticity Hypoplasia of the corpus callosum Feeding difficulties in infancy Scoliosis Short stature Poor speech Absent speech Cleft upper lip Ulnar deviation of the hand or of fingers of the hand Rod-cone dystrophy Recurrent infections Abnormality of the nervous system Dyspnea Cleft lip Myoclonus Downslanted palpebral fissures Abnormality of the pinna Hypertonia Intellectual disability, severe Dysphagia Cerebellar vermis hypoplasia Thick vermilion border Oral cleft Microphallus Ulnar deviation of the hand Shield chest Micromelia Hirsutism Depressed nasal tip Adrenal hypoplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Sandal gap Ambiguous genitalia Wide intermamillary distance Frontal bossing Barrel-shaped chest Muscular hypotonia of the trunk Macrocephaly Synophrys Joint hypermobility Hypospadias Epileptic spasms Developmental stagnation Spastic ataxia Abnormality of skin morphology Hearing impairment Inability to walk Aggressive behavior Pes planus Strabismus Encephalocele Deep philtrum Molar tooth sign on MRI Muscle fibrillation Infantile spasms Developmental regression Bruxism Dyskinesia Generalized myoclonic seizures Hypsarrhythmia Low frustration tolerance Tetraparesis Choreoathetosis Spastic tetraparesis Everted lower lip vermilion Lissencephaly Delayed ability to walk Involuntary movements Enlarged cisterna magna Hyperkinesis EEG abnormality Global brain atrophy Polymicrogyria Agitation Midface retrusion Dysarthria Slender long bone Taurodontia Hypoplasia of the pons Laryngeal stridor Macrodontia of permanent maxillary central incisor Ptosis Clinodactyly Sparse eyebrow Toe syndactyly Dysmetria Small hand Progressive cerebellar ataxia Generalized-onset seizure Diplopia Incoordination Stridor Laryngomalacia Cataract Metabolic acidosis Patent ductus arteriosus Acidosis Elevated hepatic transaminase Neonatal hypotonia Small for gestational age Lethargy Lactic acidosis Increased serum lactate Sparse and thin eyebrow Redundant skin Hypokinesia Redundant neck skin Short neck Sparse hair Dental malocclusion Fine hair Dilated fourth ventricle Flexion contracture Malar flattening External genital hypoplasia Anal atresia Renal agenesis Renal dysplasia Abnormal vertebral morphology Bone marrow hypocellularity Tracheoesophageal fistula Absent thumb Anemia Absent radius Esophageal atresia Abnormal lung lobation Chromosome breakage Abnormality of chromosome stability Cryptorchidism Abnormality of the skeletal system Thrombocytopenia Neoplasm Talipes equinovarus Pneumonia Microphthalmia Arthrogryposis multiplex congenita Congenital cataract Decreased fetal movement Cutaneous photosensitivity Rocker bottom foot Depressed nasal bridge Posteriorly rotated ears Rhabdomyolysis Low-set, posteriorly rotated ears Neurodegeneration Focal-onset seizure Sloping forehead Hypotelorism CNS hypomyelination Cortical gyral simplification Infra-orbital crease


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