Cleft palate, and Epileptic encephalopathy

Diseases related with Cleft palate and Epileptic encephalopathy

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


Top matches:

Medium match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Medium match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54


Early infantile epileptic encephalopathy-54 is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by de Kovel et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Medium match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Medium match PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION


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

Medium match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD


NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Medium match CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Cleft palate and Epileptic encephalopathy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Encephalopathy Very Common - Between 80% and 100% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cleft palate and Epileptic encephalopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Absent speech

Common Symptoms - More than 50% cases


Hypsarrhythmia

Uncommon Symptoms - Between 30% and 50% cases


Cerebral atrophy Cerebral visual impairment Infantile spasms Delayed myelination Spasticity Scoliosis Hypoplasia of the corpus callosum Myoclonus Deeply set eye EEG abnormality Ventriculomegaly Generalized-onset seizure Progressive microcephaly Visual impairment Hypertelorism Intellectual disability, severe Cerebellar atrophy Hyperreflexia Epicanthus Neonatal hypotonia Anteverted nares Depressed nasal bridge Constipation Intellectual disability, profound Strabismus Abnormality of the eye Febrile seizures Spastic tetraparesis Tetraparesis Delayed speech and language development Feeding difficulties Cognitive impairment Low-set ears Short stature Muscular hypotonia Prominent forehead Upslanted palpebral fissure Short nose Coloboma Micropenis Long philtrum Hearing impairment Micrognathia Wide nasal bridge Nystagmus Postnatal microcephaly

Rare Symptoms - Less than 30% cases


Absent septum pellucidum Abnormality of eye movement Epileptic spasms Muscular hypotonia of the trunk Inability to walk Pain Self-injurious behavior Failure to thrive Atonic seizures Generalized myoclonic seizures Cerebellar hypoplasia Stereotypy Short neck Blindness Muscle weakness Status epilepticus Tetraplegia Spastic tetraplegia CNS hypomyelination Growth delay Deep philtrum Large fontanelles Motor delay Aggressive behavior Apnea Intellectual disability, moderate Developmental regression Small hand Tapered finger Dilated fourth ventricle Decreased body weight Short foot Chorea Clinodactyly Developmental stagnation Thick vermilion border Optic disc pallor Atrial septal defect Autism Malar flattening Gait ataxia Cerebral cortical atrophy Gastroesophageal reflux Brain atrophy Open mouth Bruxism Narrow mouth Respiratory failure Sensorineural hearing impairment Obesity Ptosis Posteriorly rotated ears Narrow forehead Patent ductus arteriosus Broad forehead Expressive language delay Abnormality of the optic disc Oppositional defiant disorder Abnormality of brain morphology Aortic arch aneurysm Annular pancreas Muscle flaccidity Hypoplastic labia minora Horizontal eyebrow Abnormal external genitalia Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Talipes valgus Abnormal social behavior Cranial nerve VI palsy Noncompaction cardiomyopathy Asymmetry of the ears Abnormality of the anus Abnormality of the testis Gastric ulcer Overweight Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Abnormal lung lobation Lower limb asymmetry Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Neuroblastoma Slender long bone Telangiectasia of the skin Optic nerve coloboma Abnormality of the neck Abnormality of the mandible Abnormal renal physiology Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Colpocephaly 11 pairs of ribs Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Ebstein anomaly of the tricuspid valve Progressive cerebellar ataxia Abnormality of the femoral neck Thick eyebrow Disproportionate tall stature Global brain atrophy Focal impaired awareness seizure Involuntary movements Hypotelorism Dyskinesia Joint hypermobility Oculogyric crisis Abnormality of movement Abnormal pyramidal sign Autistic behavior Hyperactivity Facial hypotonia Neurodevelopmental delay Myopathic facies Profound global developmental delay Inappropriate crying Bilateral ptosis Loss of consciousness Thoracolumbar kyphoscoliosis Multifocal seizures Infantile encephalopathy Mood swings Hyperventilation Poor eye contact Thick lower lip vermilion Intellectual disability, mild Apraxia Sloping forehead Focal-onset seizure Sleep disturbance Short palm Severe global developmental delay Kyphoscoliosis Overlapping toe Precocious puberty Widened subarachnoid space Agenesis of the anterior commissure Atrophy/Degeneration affecting the brainstem Nonconvulsive status epilepticus Atypical absence seizures Intellectual disability, borderline Absence seizures Narrow palate Solitary renal cyst Ataxia Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Small anterior fontanelle Dysarthria Cafe-au-lait spot High forehead Broad-based gait Esotropia Unsteady gait Facial asymmetry Dolichocephaly Telecanthus Anxiety Edema Syndactyly Respiratory insufficiency Cerebellar vermis atrophy Incoordination Diplopia Abnormal heart valve morphology Dysmetria Toe syndactyly Abnormality of the immune system Abnormal blistering of the skin High hypermetropia Large for gestational age Seborrheic dermatitis Breech presentation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Central hypotonia Prominent occiput Overfolded helix Duplicated collecting system Scaling skin Redundant skin Elevated alkaline phosphatase Widely spaced teeth Multicystic kidney dysplasia Gingival overgrowth Tall stature Hemoglobinuria Micronodular cirrhosis Small nail Downslanted palpebral fissures Cardiomyopathy Hydrocephalus Ventricular septal defect Abnormality of the skeletal system Dysphagia Frontal bossing Gait disturbance Optic atrophy Triangular mouth Myopia Brachydactyly Cryptorchidism Cataract Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Inflammatory abnormality of the skin Limb undergrowth Behavioral abnormality Plagiocephaly Flexion contracture Anemia Macrogyria Oval face Overlapping fingers Abnormally large globe Optic nerve hypoplasia Hypohidrosis Macrocephaly Broad nasal tip Generalized tonic-clonic seizures Prominent nasal bridge Pallor Postnatal growth retardation Macrotia Hypertonia Hepatomegaly Pneumonia Overgrowth Downturned corners of mouth Microdontia Neuronal loss in central nervous system Webbed neck Vesicoureteral reflux Gliosis Sepsis Hemolytic anemia Wide nose Polyhydramnios Short distal phalanx of finger Hepatic failure Cirrhosis Ichthyosis Stroke Wide mouth Coarse facial features Retrognathia Myopathy Kyphosis Macule Telangiectasia Cranial nerve paralysis Abnormal intestine morphology Narrow palpebral fissure Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Heterotopia Leukoencephalopathy Pachygyria Mitral regurgitation Hypertrichosis Depressed nasal ridge Ventricular hypertrophy Interphalangeal joint contracture of finger Abnormality of the ribs Hypercholesterolemia Bicuspid aortic valve Hypoplasia of penis Clitoral hypertrophy Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Hand polydactyly Aplasia/Hypoplasia of the corpus callosum Failure to thrive in infancy Patent foramen ovale Pyloric stenosis Abnormality of vision Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Sacral dimple Coarctation of aorta Tetralogy of Fallot Midface retrusion Mandibular prognathia Abnormality of the pinna Feeding difficulties in infancy Camptodactyly Abnormality of the kidney Low-set, posteriorly rotated ears Hydronephrosis Conductive hearing impairment Hypothyroidism Abnormality of the liver Brachycephaly Hypogonadism Pes cavus Agenesis of corpus callosum Clinodactyly of the 5th finger Delayed skeletal maturation Hypospadias Abnormality of cardiovascular system morphology Joint stiffness Blepharophimosis Hip dysplasia Cleft upper lip Abnormality of the skin Intestinal malrotation Bifid uvula Renal cyst Hepatic steatosis Polymicrogyria Oral cleft Poor speech Abnormal cardiac septum morphology Synophrys Hypermetropia Abnormality of the cerebral white matter Dilated cardiomyopathy Small for gestational age Neurological speech impairment Microtia Camptodactyly of finger EEG with generalized slow activity



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 Dandy-Walker malformation, related diseases and genetic alterations Melanoma and Photophobia, related diseases and genetic alterations Depressed nasal bridge and Encephalitis, related diseases and genetic alterations Nystagmus and Blue sclerae, related diseases and genetic alterations Abnormal facial shape and Prominent nose, related diseases and genetic alterations Ataxia and Pectus carinatum, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more