Failure to thrive, and Polymicrogyria

Diseases related with Failure to thrive and Polymicrogyria

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Other less relevant matches:

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30 Is also known as coxpd30

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Feeding difficulties
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30

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

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

EEG abnormality Visual impairment Spasticity Spastic tetraparesis Feeding difficulties Growth delay Tetraparesis Severe failure to thrive Muscular hypotonia of the trunk Respiratory failure Nystagmus Abnormal pyramidal sign Depressed nasal bridge Cerebral visual impairment Hypsarrhythmia Hypoplasia of the corpus callosum Absent speech

Rare Symptoms - Less than 30% cases

Acidosis Optic atrophy Gastroesophageal reflux Toe syndactyly Rigidity Irritability Hearing impairment Retrognathia Ventriculomegaly Encephalopathy Flexion contracture Cerebral atrophy Intrauterine growth retardation Hypospadias Arthrogryposis multiplex congenita Brain atrophy Leukodystrophy Cryptorchidism Myoclonus Lactic acidosis Vomiting Spastic tetraplegia Elevated hepatic transaminase High forehead Decreased liver function Severe muscular hypotonia Lissencephaly Apnea Abnormality of the cerebral white matter Intellectual disability, severe CNS hypomyelination Arteriovenous malformation Pendular nystagmus Macrocephaly Telangiectasia of the skin Foot polydactyly Nevus flammeus Frontoparietal polymicrogyria Cerebral ischemia Frontal bossing Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Short stature Motor delay Hypermelanotic macule Cutis marmorata Psychomotor deterioration Wide mouth Primitive reflex Hydrocephalus Abnormality of cardiovascular system morphology Arrhythmia Deeply set eye Severe lactic acidosis Diffuse leukoencephalopathy Aplasia/Hypoplasia of the cerebellum Finger syndactyly Facial asymmetry Joint hyperflexibility Dysarthria Arnold-Chiari malformation Hand polydactyly Full cheeks Opisthotonus Loss of speech Edema Neoplasm Gray matter heterotopias Hypoplasia of the brainstem Short corpus callosum Cognitive impairment High palate Respiratory distress Myopathy Abnormal corpus callosum morphology Recurrent infections Polyhydramnios Developmental regression Abnormality of mitochondrial metabolism Leukoencephalopathy Wide intermamillary distance Tetraplegia Abnormality of the spinal cord Duodenal atresia Wide nasal bridge Intellectual disability, moderate Episodic fever Metabolic acidosis Cerebellar atrophy Agitation Cerebellar hypoplasia Agenesis of corpus callosum Severe short stature Craniosynostosis Cardiorespiratory arrest Poor speech Sloping forehead Pachygyria Heterotopia Unilateral renal agenesis Mild short stature Multiple joint contractures Ectopic kidney Muscular hypotonia Ankle clonus Profound global developmental delay Ventricular hypertrophy Poor eye contact Hypoventilation Central hypoventilation Abnormal muscle tone Congenital encephalopathy Abnormality of the liver Increased serum lactate Left ventricular hypertrophy Progressive microcephaly Ragged-red muscle fibers Increased CSF lactate Hyperalaninemia Strabismus Cleft palate Hypertonia Hyperactivity Intellectual disability, progressive Postnatal microcephaly Hydronephrosis Triangular face Dysphagia Blindness Inability to walk Epileptic encephalopathy Hepatomegaly Anteverted nares Renal cyst Large fontanelles Feeding difficulties in infancy Wide anterior fontanel Infantile muscular hypotonia Multiple renal cysts Large face Hyperreflexia Respiratory insufficiency Constipation Autism Autistic behavior Bilateral cryptorchidism Epicanthus Progressive flexion contractures Rapid neurologic deterioration Projectile vomiting Sudanophilic leukodystrophy Diffuse cerebral sclerosis Micrognathia Cataract Syndactyly Rotary nystagmus Posteriorly rotated ears Macrotia Low-set, posteriorly rotated ears Dry skin Cutaneous photosensitivity Bicuspid aortic valve Optic nerve hypoplasia Progressive spastic paraparesis Corpus callosum atrophy Attention deficit hyperactivity disorder Gliosis Delayed myelination Limb hypertonia Impaired smooth pursuit Dystonia Kyphoscoliosis Coarse facial features Severe global developmental delay Premature birth Decreased muscle mass Focal-onset seizure Neuronal loss in central nervous system Progressive neurologic deterioration Clonus Paraparesis Spastic paraparesis Global brain atrophy Progressive leukoencephalopathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Hepatosplenomegaly, related diseases and genetic alterations Intellectual disability, severe and Developmental regression, related diseases and genetic alterations Low-set ears and Hydronephrosis, related diseases and genetic alterations Cognitive impairment and Subcutaneous nodule, related diseases and genetic alterations