Failure to thrive, and Ptosis

Diseases related with Failure to thrive and Ptosis

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

Top matches:

Medium match FAZIO-LONDE DISEASE

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).

FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about FAZIO-LONDE DISEASE

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type|epidermolysis bullosa simplex, kÖbner type|generalized epidermolysis bullosa simplex, non-dowling-meara type|ebs, generalized intermediate|epidermolysis bullosa simplex, koebner type

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

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

Other less relevant matches:

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

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Ptosis
  • Feeding difficulties
  • Motor delay


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET

Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Medium match NEUROBLASTOMA

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Ophthalmoplegia Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Proximal muscle weakness Global developmental delay Fatigable weakness Ophthalmoparesis Increased serum lactate External ophthalmoplegia Seizures Feeding difficulties Ataxia Dysphagia Generalized muscle weakness Respiratory insufficiency Hearing impairment Progressive muscle weakness

Rare Symptoms - Less than 30% cases

Weight loss Myopathy Visual impairment Elevated serum creatine phosphokinase Optic atrophy Developmental regression Ragged-red muscle fibers Polyneuropathy Spasticity Acidosis Neonatal hypotonia Fever Lactic acidosis Respiratory insufficiency due to muscle weakness Easy fatigability Strabismus Hepatomegaly Elevated hepatic transaminase Scoliosis Nystagmus Hyperreflexia Paralysis Bulbar palsy Facial diplegia Sensorineural hearing impairment Gastrointestinal dysmotility Abnormality of the liver Nausea Progressive neurologic deterioration Aminoaciduria Opsoclonus Cachexia Myalgia Proximal tubulopathy Adrenal calcification Growth delay Unsteady gait Cardiomyopathy Congestive heart failure Immunodeficiency Recurrent infections Hepatosplenomegaly Abdominal mass Elevated urinary catecholamines Nausea and vomiting Malignant hyperthermia Motor delay Gait disturbance Recurrent respiratory infections Scapular winging EMG: myopathic abnormalities Myopathic facies Multiple joint contractures Rhabdomyolysis Type 1 muscle fiber predominance Elevated urinary dopamine Minicore myopathy Infantile axial hypotonia Rectus femoris muscle atrophy Elevated urinary homovanillic acid Intellectual disability Peripheral neuropathy Vomiting Gait ataxia Lymphadenopathy Dilated cardiomyopathy Eczema Diarrhea Pain Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Dysplastic corpus callosum Decreased activity of mitochondrial complex III Ganglioneuroma Paraganglioma Skin nodule Decreased activity of mitochondrial complex IV Neoplasm Spinal cord compression Neoplasm of the nervous system Neuroblastoma Neurofibromas Anemia Abnormality of the thorax Bone pain Cafe-au-lait spot Abdominal pain Hypertension Myoclonus Leukoencephalopathy Spastic tetraparesis Psoriasiform dermatitis Horner syndrome Leukocytosis Progressive proximal muscle weakness Severe failure to thrive Recurrent pharyngitis Pyelonephritis Gastrointestinal inflammation Pharyngitis Cleft palate Ganglioneuroblastoma Hypoplasia of the corpus callosum Muscle stiffness Dystonia Absent speech Hypospadias Irritability Abnormality of the cerebral white matter Hepatic steatosis Bradykinesia Spinocerebellar atrophy Cholestasis Tetraparesis Chorea Supranuclear ophthalmoplegia Arthrogryposis multiplex congenita Paralytic ileus Respiratory distress Respiratory failure Dyspnea Polyhydramnios Rigidity Apnea Respiratory tract infection Autoimmunity Paresthesia Increased CSF lactate Hemolytic anemia Tapered finger Cyanosis Hepatitis Psychosis Diplopia Aspiration Systemic lupus erythematosus Poor suck Rheumatoid arthritis Ileus Distal sensory impairment Abnormality of the immune system Generalized hyperreflexia Facial palsy Bilateral ptosis Stridor Oral-pharyngeal dysphagia Amyotrophic lateral sclerosis Axial muscle weakness Diaphragmatic paralysis Inspiratory stridor Diaphragmatic weakness Progressive inspiratory stridor Skeletal muscle atrophy Hyperhidrosis Palmoplantar keratoderma Abnormal blistering of the skin Abnormality of the nail Abnormality of dental enamel Milia Oral leukoplakia Abnormal pattern of respiration Subcutaneous hemorrhage Generalized hyperkeratosis Glycosuria Weak cry Limb tremor Abnormality of extrapyramidal motor function Spastic paraplegia Paraplegia Dysmetria Retinal degeneration Dyskinesia Progressive cerebellar ataxia Progressive visual loss Neuronal loss in central nervous system Pigmentary retinopathy Macular degeneration Retinopathy Schizophrenia Incoordination Blurred vision Macular dystrophy Bipolar affective disorder Slow saccadic eye movements Head tremor Spinocerebellar tract degeneration Olivopontocerebellar atrophy Orofacial dyskinesia Abnormal pyramidal sign Mental deterioration Hyperthyroidism Decreased miniature endplate potentials Primary adrenal insufficiency Hashimoto thyroiditis Acrocyanosis Raynaud phenomenon Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Sudden episodic apnea Reduced visual acuity 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 Single fiber EMG abnormality Tremor Blindness Visual loss Babinski sign Dementia Elevated urinary vanillylmandelic acid


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