Feeding difficulties, and Apraxia

Diseases related with Feeding difficulties and Apraxia

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Apraxia that can help you solving undiagnosed cases.


Top matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

Medium match CLASSIC GALACTOSEMIA


Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

CLASSIC GALACTOSEMIA Is also known as galt deficiency|galactose-1-phosphate uridyltransferase deficiency|galactosemia type 1

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Failure to thrive
  • Cataract
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC GALACTOSEMIA

Medium match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

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Other less relevant matches:

Medium match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION


PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

Medium match ADENYLOSUCCINATE LYASE DEFICIENCY


Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Low match DNM1L-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT


Encephalopathy due to defective mitochondrial and peroxisomal fission-1 is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016). Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal FissionSee also EMPF2 (OMIM ), caused by mutation in the MFF gene (OMIM ) on chromosome 2q36.

DNM1L-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as empf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNM1L-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B


Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Low match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Apraxia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Apraxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Hyperreflexia Absent speech Oculomotor apraxia Cerebral atrophy Hypertonia Apnea Postnatal microcephaly Ataxia Nystagmus Delayed myelination Growth delay Hypoplasia of the corpus callosum Respiratory failure Anteverted nares Muscular hypotonia of the trunk Feeding difficulties in infancy Developmental regression Low-set ears Gait disturbance Flexion contracture Muscular hypotonia Tremor

Rare Symptoms - Less than 30% cases


Delayed speech and language development Skeletal muscle atrophy Abnormal facial shape Horizontal nystagmus Cerebellar atrophy Hyperactivity Long philtrum Choreoathetosis Encephalopathy Myoclonus Attention deficit hyperactivity disorder Thin upper lip vermilion Areflexia Aganglionic megacolon Long face Motor delay Cognitive impairment Ptosis Athetosis Dysmetria Neonatal hypotonia Difficulty walking Respiratory insufficiency Aggressive behavior Muscle weakness Clumsiness Generalized tonic-clonic seizures Hydrocephalus Self-mutilation Brisk reflexes Impulsivity Stereotypy Inability to walk Severe global developmental delay Pneumonia Open mouth Intention tremor Poor head control Speech apraxia Hypoglycemia Constipation Ophthalmoplegia Aspiration Dysarthria Optic atrophy Duodenal ulcer Vomiting Language impairment Mask-like facies Myopathic facies Chronic constipation Ileus Impaired social interactions Urethral stenosis Midface retrusion Cachexia Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Visual impairment Cerebellar hypoplasia Hip dislocation Spastic paraplegia Abnormality of the foot Redundant skin External ophthalmoplegia Abnormality of metabolism/homeostasis Dystonia Pes cavus Mandibular prognathia Intellectual disability, moderate Irritability Autistic behavior Malar flattening Broad forehead Hypermetropia Joint hyperflexibility Narrow face Abnormality of the cerebral white matter Joint hypermobility Parkinsonism Chorea Behavioral abnormality Talipes Tall stature Exotropia Paraplegia Babinski sign Distal amyotrophy Cerebellar vermis hypoplasia Abnormal anterior horn cell morphology Retrocerebellar cyst Scoliosis Abnormality of cardiovascular system morphology Prominent nasal bridge Oral cleft Polymicrogyria Iris coloboma Highly arched eyebrow Abnormal form of the vertebral bodies Motor neuron atrophy Encephalocele Situs inversus totalis Aplasia/Hypoplasia of the corpus callosum Hand polydactyly Abnormality of neuronal migration Biparietal narrowing Foot polydactyly Abnormality of the hypothalamus-pituitary axis Abnormal pattern of respiration Talipes valgus Atrophy of the spinal cord Retinal dystrophy Spinal muscular atrophy Intellectual disability, severe Gliosis Brain atrophy Progressive muscle weakness Progressive microcephaly Fasciculations Cone/cone-rod dystrophy Adducted thumb Congenital contracture Hypoplasia of the brainstem Tongue atrophy Global brain atrophy Gaze-evoked nystagmus Weak cry Axonal loss Abnormal lower motor neuron morphology Hypoplasia of the pons Tongue fasciculations Degeneration of anterior horn cells Cerebellar cyst Abnormal cerebellum morphology Profound global developmental delay Abnormality of eye movement Hypsarrhythmia Autism Hepatomegaly Anemia Wide mouth Impairment of galactose metabolism Smooth philtrum Speech articulation difficulties Generalized-onset seizure Decreased fertility in females Dysphagia CNS hypomyelination Abnormality of the ovary Flat occiput Opisthotonus Poor eye contact Cerebellar vermis atrophy Prominent metopic ridge Epileptic spasms Sepsis Gait ataxia Brachycephaly Cerebral hypomyelination Malnutrition Recurrent aspiration pneumonia Intellectual disability, profound Bulbar signs Trismus Hydrops fetalis Leukodystrophy Protuberant abdomen Leukoencephalopathy Progressive spasticity Respiratory distress Aspiration pneumonia Developmental stagnation Progressive neurologic deterioration Esotropia Rigidity Hepatosplenomegaly Short nose Thrombocytopenia Splenomegaly Short attention span Happy demeanor Clonus Decreased fetal movement Deeply set eye Mental deterioration Abnormal pyramidal sign Cataract Lactic acidosis Increased serum lactate Epileptic encephalopathy Peripheral demyelination Status epilepticus Acidosis Broad thumb Pointed chin Drooling Ragged-red muscle fibers Abnormality of mitochondrial metabolism Dysphasia Diffuse cerebral atrophy Edema Short stature Osteoporosis Weight loss Inappropriate laughter Abnormality of movement Hypointensity of cerebral white matter on MRI High palate Depressed nasal bridge Abnormal bleeding Upslanted palpebral fissure Hypothyroidism Protruding ear Hepatic failure Nausea and vomiting Jaundice Lethargy Bradycardia Paraparesis Hyperbilirubinemia Laryngomalacia Inverted nipples Pontocerebellar atrophy Ganglioneuroblastoma Pain Episodic tachypnea



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