Low-set ears, and Optic atrophy

Diseases related with Low-set ears and Optic atrophy

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

Top matches:

High 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

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

Other less relevant matches:

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Optic atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Cerebellar atrophy Spasticity Cerebellar hypoplasia Visual impairment Flexion contracture Talipes equinovarus Micrognathia Cataract Cerebral visual impairment Progressive microcephaly Abnormal facial shape Talipes Depressed nasal bridge Anteverted nares Growth delay Macrotia High palate Muscular hypotonia of the trunk Epicanthus Hearing impairment Blindness Strabismus Feeding difficulties Short stature Low-set, posteriorly rotated ears Cerebral atrophy Absent speech Narrow forehead Full cheeks Sloping forehead Hypsarrhythmia Scoliosis Frontal bossing

Rare Symptoms - Less than 30% cases

Dystonia Muscular hypotonia Severe global developmental delay Abnormality of metabolism/homeostasis Clonus High, narrow palate Edema Proptosis Brachycephaly Dandy-Walker malformation Failure to thrive Abnormal autonomic nervous system physiology Intrauterine growth retardation EEG abnormality High forehead Cryptorchidism Apnea Joint stiffness Pectus carinatum Protruding ear Downslanted palpebral fissures Ventriculomegaly Microphthalmia Encephalopathy Ataxia Delayed myelination Microcornea Broad eyebrow Abnormality of cardiovascular system morphology Cerebellar vermis hypoplasia Cleft palate Hydrocephalus Hypertelorism Postnatal growth retardation Vesicoureteral reflux Hand clenching Dysmetria Joint hypermobility Inability to walk Generalized-onset seizure Fine hair Choreoathetosis Broad-based gait Sparse eyelashes Brittle hair Sparse eyebrow Dysarthria Coloboma Ventricular septal defect Behavioral abnormality Hypospadias Abnormal heart morphology Posteriorly rotated ears Autism Gastroesophageal reflux Oligohydramnios Autistic behavior Blepharophimosis Postaxial hand polydactyly Furrowed tongue Ambiguous genitalia Neuronal loss in central nervous system Myoclonus Upslanted palpebral fissure Rigidity Dry skin Thin vermilion border Generalized myoclonic seizures Gliosis Brain atrophy Round face Epileptic encephalopathy Status epilepticus Hypertonia Bradycardia Abnormality of mitochondrial metabolism Global brain atrophy Dysphasia Muscle fibrillation Mild microcephaly Limb joint contracture Myoclonic spasms Multifocal seizures Hypoplasia of the frontal lobes Babinski sign Cystic liver disease Depressed nasal ridge Sclerocornea Encephalocele Bowing of the long bones Situs inversus totalis Multicystic kidney dysplasia Aplasia/Hypoplasia of the corpus callosum Anophthalmia Preaxial hand polydactyly Anencephaly Male pseudohermaphroditism Postaxial foot polydactyly Asplenia Lobar holoprosencephaly Kyphoscoliosis Congenital hepatic fibrosis Ureteral duplication Pancreatic cysts Accessory spleen Aplasia/Hypoplasia of the iris Abnormal chorioretinal morphology Urethral atresia Aplasia/Hypoplasia of the tongue Pancreatic fibrosis True hermaphroditism Distal muscle weakness Spastic tetraparesis Gait ataxia Abdominal distention Overlapping fingers Secundum atrial septal defect Ileus Neonatal insulin-dependent diabetes mellitus Meconium ileus Cerebellar agenesis Aplasia/Hypoplasia of the pancreas Respiratory insufficiency Leukodystrophy Reduced subcutaneous adipose tissue Tented upper lip vermilion CNS hypomyelination Peripheral edema Nystagmus Sensorineural hearing impairment Ptosis Wide nasal bridge Macrocephaly Developmental regression Severe intrauterine growth retardation Bilateral talipes equinovarus Dolichocephaly Congenital blindness Atrial septal defect Intellectual disability, severe Prominent forehead Thin upper lip vermilion Wide mouth Prominent nasal bridge Abnormality of the skin Intellectual disability, profound Clitoral hypertrophy Fused labia minora Hyperglycemia Obesity Diabetes mellitus Hypoglycemia Abnormality of the pinna Triangular face Convex nasal ridge Type II diabetes mellitus Short chin Optic nerve hypoplasia Abnormality of the liver Abnormality of movement Agenesis of corpus callosum Thoracic scoliosis Downturned corners of mouth Dyskinesia Underdeveloped nasal alae Decreased body weight Elbow flexion contracture Poor head control Hypoplasia of the brainstem Long palpebral fissure Progressive encephalopathy Long philtrum Hypoplasia of the pons Pontocerebellar atrophy Delayed speech and language development Myopia Tremor Abnormality of the dentition Kyphosis Short nose Hyporeflexia Neonatal hypotonia Central hypoventilation Retinal dystrophy Polar cataract Esotropia Abnormality of retinal pigmentation Decreased liver function Wide anterior fontanel Bilateral single transverse palmar creases Abnormal palate morphology Abnormality of neuronal migration Adrenal insufficiency Primary adrenal insufficiency Elevated long chain fatty acids Central hypotonia Skeletal muscle atrophy Cerebral cortical atrophy Abnormality of the cerebral white matter Narrow chest Tetraparesis Narrow palate Plagiocephaly Multiple joint contractures Hypoventilation Uplifted earlobe


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