Failure to thrive, and Strabismus

Diseases related with Failure to thrive and Strabismus

In the following list you will find some of the most common rare diseases related to Failure to thrive and Strabismus that can help you solving undiagnosed cases.

Top matches:

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Other less relevant matches:

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7 Is also known as severe c12orf65-related combined oxidative phosphorylation defect|severe c12orf65-related coxpd|coxpd7

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Top 5 symptoms//phenotypes associated to Failure to thrive and Strabismus

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hyperactivity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Strabismus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Delayed myelination Nystagmus Aggressive behavior

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Broad forehead Poor speech Growth delay Polyhydramnios Muscular hypotonia Hearing impairment Delayed gross motor development Sensorineural hearing impairment Abnormal facial shape Cognitive impairment Feeding difficulties Gastroesophageal reflux Ptosis Visual impairment Hypertelorism Ventriculomegaly Autism Prominent forehead Optic atrophy Behavioral abnormality Cerebral atrophy Macrocephaly Intrauterine growth retardation Dysarthria Ophthalmoplegia Rigidity Episodic fever Corpus callosum atrophy Cerebral hypomyelination Brain atrophy Cerebral white matter atrophy Dyspnea Respiratory failure Respiratory distress Muscle weakness Dysphagia Fever CNS hypomyelination Limb hypertonia Tetraplegia Hypsarrhythmia Cleft palate Hypertonia EEG abnormality Hydronephrosis Autistic behavior Polymicrogyria Cerebral visual impairment Abnormality of eye movement Impaired smooth pursuit Intellectual disability, severe Cerebellar atrophy Dystonia Cerebral cortical atrophy Elevated hepatic transaminase Abnormal pyramidal sign Proximal muscle weakness Hepatitis Apnea EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Hyperthyroidism Fatigable weakness Primary adrenal insufficiency Hashimoto thyroiditis Acrocyanosis Raynaud phenomenon Myositis Type 2 muscle fiber atrophy Abnormality of the thymus Abnormality of the immune system Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Weak cry Glycosuria Respiratory tract infection Ileus Paralysis Autoimmunity Arthrogryposis multiplex congenita Paresthesia Hemolytic anemia Tapered finger Generalized muscle weakness Cyanosis Psychosis Bulbar palsy Diplopia Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Systemic lupus erythematosus Poor suck Rheumatoid arthritis Ophthalmoparesis Paralytic ileus Telecanthus Increased CSF lactate Neurological speech impairment Large forehead Speech apraxia Tremor Frontal bossing Deeply set eye Hyperlordosis Microtia Long face Language impairment Generalized myoclonic seizures Focal-onset seizure Postnatal macrocephaly Small for gestational age Oligohydramnios Decreased fetal movement Aganglionic megacolon Delayed ability to walk Relative macrocephaly Neuroblastoma Obesity Coarse facial features Intellectual disability, profound Arachnoid cyst Appendicular hypotonia Delayed speech and language development Downslanted palpebral fissures Short nose Retrognathia Drooling Anxiety Intellectual disability, moderate Irritability Broad nasal tip Apraxia Open mouth Stereotypy Abnormal autonomic nervous system physiology Breathing dysregulation Facial diplegia Neurodevelopmental delay Hyperpigmented streaks Depressed nasal bridge Epicanthus Upslanted palpebral fissure Hypothyroidism Esotropia Growth hormone deficiency Ataxia Lacrimal duct atresia Skeletal muscle atrophy Areflexia Developmental regression Distal sensory impairment Polyneuropathy Increased serum lactate External ophthalmoplegia Histiocytoid cardiomyopathy Cavum septum pellucidum Central hypoventilation Muscular hypotonia of the trunk Central sleep apnea Ganglioneuroma Myopia Cardiomyopathy Microphthalmia Cerebellar hypoplasia Agenesis of corpus callosum Dilated cardiomyopathy Dilation of lateral ventricles Tachycardia Cardiac arrest Severe muscular hypotonia Ventricular tachycardia Ventricular fibrillation Pericardial effusion Sclerocornea Single fiber EMG abnormality


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