High palate, and Leukodystrophy

Diseases related with High palate and Leukodystrophy

In the following list you will find some of the most common rare diseases related to High palate and Leukodystrophy that can help you solving undiagnosed cases.

Top matches:

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

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

Other less relevant matches:

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Medium match ZELLWEGER SYNDROME

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

OROFACIODIGITAL SYNDROME XVII; OFD17 Is also known as ofds xvii|oral-facial-digital syndrome, type xvii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVII; OFD17

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Top 5 symptoms//phenotypes associated to High palate and Leukodystrophy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Visual impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Leukodystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hearing impairment Low-set ears Failure to thrive Short stature Prominent forehead Anteverted nares Growth delay Cerebral atrophy Ventriculomegaly Hypoplasia of the corpus callosum Abnormal facial shape Spasticity Optic atrophy Feeding difficulties Hypertelorism Hyperreflexia Epicanthus Delayed speech and language development Encephalopathy Macrocephaly Cerebellar atrophy CNS hypomyelination Respiratory insufficiency Brain atrophy Neonatal hypotonia Abnormality of the cerebral white matter Tetraplegia Cataract Cognitive impairment Ichthyosis Edema Ataxia Sensorineural hearing impairment Muscular hypotonia Acidosis Hepatomegaly Developmental regression High, narrow palate Depressed nasal bridge High forehead Wide nasal bridge

Rare Symptoms - Less than 30% cases

Renal cyst Jaundice Esotropia Facial palsy Absent speech Large fontanelles Rhizomelia Hand clenching EEG abnormality Epileptic encephalopathy Aplasia/Hypoplasia of the corpus callosum Ventricular septal defect Intellectual disability, severe Posteriorly rotated ears Upslanted palpebral fissure Flat face Corneal opacity Abnormality of the pinna Abnormality of the skeletal system Wide anterior fontanel Increased CSF protein Atrophy/Degeneration affecting the brainstem Precocious puberty Epiphyseal stippling Peripheral demyelination Dysmetria Cleft lip Agenesis of corpus callosum Hyporeflexia Hydrocephalus Short neck Dysphagia Ptosis Very long chain fatty acid accumulation Hyperoxaluria Pachygyria Dolichocephaly Strabismus Prominent metopic ridge Retrognathia Muscular hypotonia of the trunk Polyhydramnios Spastic tetraplegia Abnormal pyramidal sign Respiratory failure Camptodactyly Coloboma Microphthalmia Stage 5 chronic kidney disease Severe muscular hypotonia Convex nasal ridge Cryptorchidism Narrow forehead Polymicrogyria Intrauterine growth retardation Micrognathia Midface retrusion Leukoencephalopathy Thick lower lip vermilion Cerebellar vermis hypoplasia Reduced tendon reflexes Opacification of the corneal stroma Aminoaciduria Nephrocalcinosis Abnormal electroretinogram Multicystic kidney dysplasia Intellectual disability, progressive Cubitus valgus Interphalangeal joint contracture of finger Prolonged neonatal jaundice Adrenal hypoplasia Posterior embryotoxon External ear malformation Dandy-Walker malformation Primary adrenal insufficiency Underdeveloped supraorbital ridges Protruding tongue Congenital glaucoma Polycystic kidney dysplasia Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Flat occiput Rocker bottom foot Clitoral hypertrophy Decreased liver function Pyloric stenosis Global brain atrophy Narrow chest Hypoplasia of dental enamel Skeletal dysplasia Urinary glycosaminoglycan excretion Rapid neurologic deterioration Talipes equinovarus Delayed CNS myelination Renal insufficiency Malar flattening Hypospadias Patent ductus arteriosus Visual loss Areflexia Delayed skeletal maturation Widow's peak Hyperactive deep tendon reflexes Glaucoma Elevated hepatic transaminase Heterotopia Macroglossia Cholestasis Optic disc pallor Pigmentary retinopathy Aciduria Premature birth Round face Single transverse palmar crease Hydronephrosis Prominent occiput Poor eye contact Pulmonary hypoplasia Hepatic failure Malabsorption Feeding difficulties in infancy Bell-shaped thorax Abnormality of the mitochondrion Thickened nuchal skin fold Anxiety Broad forehead Apnea Telecanthus Decreased body weight Short ribs Abnormality of digit Myoclonus Facial asymmetry Short nose Small anterior fontanelle Hypoplastic vertebral bodies Infantile spasms Progressive microcephaly Intellectual disability, profound Hypsarrhythmia Renal hypoplasia Unsteady gait Febrile seizures Bilateral ptosis Polydactyly Clinodactyly Facial hypotonia Neurodevelopmental delay Myopathic facies Overlapping toe Deep philtrum Delayed myelination Cerebral visual impairment Cafe-au-lait spot Broad-based gait Open mouth Prominent nose Dental malocclusion Tetralogy of Fallot Inverted nipples Hypoplastic olfactory lobes Breech presentation Tapetoretinal degeneration Central Y-shaped metacarpal Gastroesophageal reflux Abnormal cardiac septum morphology Camptodactyly of finger Abnormality of the tongue Hepatic cysts Everted lower lip vermilion Intestinal lymphangiectasia Ulnar deviation of the hand Sepsis Profound global developmental delay Micropenis Labial hypoplasia Redundant neck skin Abnormality of the helix Brachyturricephaly Glutaric aciduria Intrahepatic biliary dysgenesis Bifid tongue Sudanophilic leukodystrophy Elevated long chain fatty acids Median cleft lip Subependymal cysts Clubbing of fingers Brushfield spots Renal cortical microcysts Short middle phalanx of the 2nd finger Albuminuria Abnormal chorioretinal morphology Partial duplication of thumb phalanx Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Short 2nd finger Widely patent fontanelles and sutures Retrocerebellar cyst Muscle fibrillation Mucopolysacchariduria Cardiomyopathy Respiratory tract infection Postnatal growth retardation Osteoporosis Rod-cone dystrophy Arrhythmia Behavioral abnormality Skeletal muscle atrophy Nyctalopia Hypertensive crisis Diffuse mesangial sclerosis Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Retinopathy Congenital cataract Lissencephaly Severe hearing impairment Motor delay Muscle weakness Scoliosis Elevated levels of phytanic acid Progressive spinal muscular atrophy Hypocholesterolemia Constriction of peripheral visual field Cirrhosis Impulsivity Spinal muscular atrophy Hepatic fibrosis Progressive muscle weakness Abnormality of epiphysis morphology Nephrolithiasis Abnormality of the face Hypoalbuminemia Hypocalcemia Dysarthria Tetraparesis Episodic fever Opisthotonus Agitation Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Spastic tetraparesis Wide intermamillary distance Pendular nystagmus Metabolic acidosis Lactic acidosis Arthrogryposis multiplex congenita Irritability Recurrent infections Myopathy Respiratory distress Loss of speech Severe lactic acidosis Postnatal microcephaly Deeply set eye Coarctation of aorta Nephrotic syndrome Oligohydramnios Sloping forehead Arachnodactyly Hip dislocation Proteinuria Narrow mouth Primitive reflex Cerebellar hypoplasia Pectus excavatum Downslanted palpebral fissures Progressive leukoencephalopathy Frontoparietal polymicrogyria Diffuse leukoencephalopathy Psychomotor deterioration Hypertension Tremor Abnormality of peripheral nerve conduction Hyperpigmented nevi Mental deterioration Hepatosplenomegaly Coarse facial features Splenomegaly Diffuse demyelination of the cerebral white matter Microcoria Recurrent singultus Skin rash Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Joint stiffness Smooth philtrum Poor coordination Abnormality of the periventricular white matter Periorbital edema CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Developmental stagnation Large forehead Dysostosis multiplex Lower limb hyperreflexia Retinal degeneration Broad hallux Coarse hair Abnormality of retinal pigmentation Broad thumb Progressive neurologic deterioration Neurodegeneration Thick eyebrow Megalencephaly Drowsiness Gait disturbance Weight loss Nausea and vomiting Neurological speech impairment Cough Hyperlordosis Osteopenia Hypothyroidism Diabetes mellitus Sleep disturbance Hyperhidrosis Dementia Constipation Depressivity Kyphosis Vomiting Frontal bossing Abnormality of eye movement Sudden cardiac death Progressive spasticity Sleep apnea Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Encephalitis Dysphonia Abnormal autonomic nervous system physiology Gliosis Muscle stiffness Clonus Diplopia Cerebral calcification Amenorrhea Hypotension Chorea Interrupted aortic arch


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Severe global developmental delay, related diseases and genetic alterations Macrocephaly and Abnormal cerebellum morphology, related diseases and genetic alterations Hydrocephalus and Otitis media, related diseases and genetic alterations