Low-set ears, and Hypertonia

Diseases related with Low-set ears and Hypertonia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

Other less relevant matches:

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

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

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% 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
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Encephalopathy Posteriorly rotated ears Ataxia Muscular hypotonia of the trunk Delayed speech and language development Hypoplasia of the corpus callosum Spasticity Progressive microcephaly Absent speech Narrow forehead Growth delay Hypsarrhythmia Intellectual disability, profound Scoliosis Epileptic encephalopathy Brain atrophy Abnormal facial shape Intellectual disability, severe High palate Failure to thrive

Rare Symptoms - Less than 30% cases

Chorea Postnatal microcephaly Tapered finger Cerebellar hypoplasia Hypertelorism Babinski sign Cognitive impairment Dysarthria Short stature CNS hypomyelination Highly arched eyebrow Spastic tetraplegia Sparse hair Infantile spasms Long eyelashes Febrile seizures Tetraplegia Thick eyebrow Spastic paraplegia Poor speech Hyperkinesis Midface retrusion Lissencephaly Spastic tetraparesis Intrauterine growth retardation Choreoathetosis Tetraparesis Upper eyelid edema Status epilepticus Generalized myoclonic seizures Dyskinesia Developmental regression Abnormality of the nervous system Pancytopenia Dyspnea Micropenis Myoclonus Dystonia Ventriculomegaly Dysphagia Epicanthus Oral leukoplakia Constipation Alopecia Nail dystrophy Carious teeth Bone marrow hypocellularity Abnormality of skin pigmentation Fine hair Abdominal distention Global brain atrophy Aggressive behavior Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Talipes equinovarus Pes cavus Hyperactivity Mandibular prognathia EEG abnormality Joint laxity Volvulus Dolichocephaly Synophrys Talipes Unsteady gait Long face Bulbous nose Prominent nose Decreased muscle mass Intestinal pseudo-obstruction Arthropathy Muscle fibrillation Patent ductus arteriosus Epileptic spasms Developmental stagnation Spastic ataxia Abnormality of skin morphology Peripheral neuropathy Downslanted palpebral fissures Vomiting Thrombocytopenia Hydronephrosis Multiple lipomas Feeding difficulties in infancy Smooth philtrum Congenital microcephaly Intestinal malrotation Aganglionic megacolon Pyloric stenosis Intestinal obstruction Spastic diplegia Nonprogressive cerebellar ataxia Cerebellar vermis atrophy Limb hypertonia Muscular hypotonia Broad-based gait Severe muscular hypotonia Drooling Progressive spasticity Abnormal CNS myelination Nasogastric tube feeding in infancy Cardiomyopathy Generalized tonic-clonic seizures Edema Acidosis Retrognathia Hypertrophic cardiomyopathy Dilated cardiomyopathy Lactic acidosis Metabolic acidosis Hypotelorism Difficulty walking Delayed myelination Cataract Cerebellar atrophy Cerebral atrophy Coloboma Atrophy/Degeneration affecting the brainstem Small anterior fontanelle Nystagmus High forehead Tremor Jaundice Paraparesis Nephrocalcinosis Spastic paraparesis Prolonged neonatal jaundice Inverted nipples Neurogenic bladder Ascites Increased serum lactate Palpebral edema Protruding ear Incoordination Dilated fourth ventricle Strabismus Anteverted nares Agenesis of corpus callosum Low-set, posteriorly rotated ears Hirsutism Diplopia Everted lower lip vermilion Abnormal cerebellum morphology Cerebellar vermis hypoplasia Thick lower lip vermilion Low anterior hairline Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Cerebral visual impairment Generalized-onset seizure Leukoencephalopathy Visual impairment Redundant neck skin Generalized edema Abnormality of the renal tubule Abnormality of the amniotic fluid Chronic metabolic acidosis Ptosis Motor delay Progressive cerebellar ataxia Wide nasal bridge Syndactyly Clinodactyly Gait ataxia Toe syndactyly Dysmetria Small hand Delayed ability to walk


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