Cleft palate, and Febrile seizures

Diseases related with Cleft palate and Febrile seizures

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


Top matches:

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

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Other less relevant matches:

Low match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Low match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Low 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

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17


Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Low 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

Low match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Top 5 symptoms//phenotypes associated to Cleft palate and Febrile seizures

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

Patients with Cleft palate and Febrile seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Growth delay Hypoplasia of the corpus callosum Wide nasal bridge Intellectual disability, severe Hypertelorism Delayed speech and language development Brachycephaly Short philtrum Ventriculomegaly Micrognathia Low-set ears Deeply set eye Downturned corners of mouth Muscular hypotonia Scoliosis High forehead Motor delay Coloboma Posteriorly rotated ears Abnormality of the cerebral white matter Thin upper lip vermilion Brachydactyly Clinodactyly of the 5th finger Hyperreflexia Clinodactyly Epicanthus Ptosis Short neck Smooth philtrum Bulbous nose Spasticity Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Telecanthus Narrow mouth Synophrys Behavioral abnormality Talipes equinovarus Inguinal hernia Abnormal heart morphology Pectus excavatum Hypospadias Hernia Abnormality of cardiovascular system morphology Long philtrum Microphthalmia Autism Frontal bossing Broad eyebrow Sparse hair Poor speech EEG abnormality Thick eyebrow Hirsutism Dilatation Anteverted nares Brain atrophy Feeding difficulties Esotropia Median cleft palate Narrow forehead Flexion contracture External ear malformation Open mouth Long eyelashes Broad hallux phalanx Low anterior hairline Overlapping toe Absence seizures Widely spaced teeth Wide intermamillary distance Full cheeks Strabismus Short palpebral fissure Prominent nasal bridge Happy demeanor Oligodontia Thin vermilion border Bruxism Short palm Wide nose Tetraplegia Small hand Progressive microcephaly Spastic tetraplegia Neonatal hypotonia Postnatal microcephaly Intellectual disability, profound Cognitive impairment Hypoplasia of dental enamel Drooling Epileptic encephalopathy Fine hair Joint laxity Hearing impairment Encephalopathy Excessive salivation Postnatal growth retardation Broad forehead Aggressive behavior Anxiety Atypical absence seizures Abnormality of the periventricular white matter Cryptorchidism Hyperactivity Depressivity Cleft upper lip Syndactyly Malar flattening Narrow jaw Pulmonic stenosis Obesity Fever Falls Iris coloboma Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Toe clinodactyly Neurological speech impairment Pes valgus Overbite Generalized osteoporosis Cleft lip Abnormality of the kidney Finger syndactyly Truncal obesity Atrial septal defect Pain Failure to thrive Nystagmus Vomiting Horizontal eyebrow Abnormality of the cerebellar vermis Unilateral cleft lip Mild microcephaly Overweight Diarrhea Slender finger Severe muscular hypotonia Developmental regression Short nose Patent ductus arteriosus Constipation Hypotelorism Agenesis of corpus callosum Round face Cerebral cortical atrophy Mandibular prognathia Macrotia Hydronephrosis Abnormal cardiac septum morphology Camptodactyly of finger Pectus carinatum Ventricular septal defect Aganglionic megacolon Everted lower lip vermilion Atonic seizures Dysplastic corpus callosum Incoordination Finger clinodactyly Hypertriglyceridemia Generalized myoclonic seizures Nonconvulsive status epilepticus Intellectual disability, borderline Narrow palate Cerebral atrophy Status epilepticus Delayed myelination Myoclonus Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Cerebellar atrophy Hypsarrhythmia Uplifted earlobe Wide mouth Acetabular dysplasia Facial hypotonia Genu recurvatum Protruding tongue Waddling gait Inability to walk Paraplegia Spastic paraplegia Pes planus CNS hypomyelination Coarse facial features Babinski sign Dystonia Hypertonia Dysarthria Small anterior fontanelle Atrophy/Degeneration affecting the brainstem Infantile spasms Generalized muscle hypertrophy Deep plantar creases Tapered finger Sparse scalp hair Poor suck Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Pointed chin Abnormality of the genital system Recurrent otitis media Coarctation of aorta Sparse eyebrow Sloping forehead Dehydration Tetralogy of Fallot Focal-onset seizure Otitis media Vesicoureteral reflux Abdominal distention Delayed eruption of teeth Pyloric stenosis Aplasia/Hypoplasia of the cerebellum Subglottic stenosis Low hanging columella Prominent nasal tip Esodeviation Broad columella Large earlobe Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Abnormal eyebrow morphology Bifid scrotum Pulmonary artery stenosis Drowsiness Submucous cleft hard palate Supernumerary nipple Ectopic kidney Hallux valgus Rocker bottom foot Cupped ear Cleft soft palate Elevated serum creatine phosphokinase Conical tooth Bidirectional ventricular ectopy Intellectual disability, mild Congestive heart failure Edema Depressed nasal bridge Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Antegonial notching of mandible Umbilical hernia Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Short digit Clinodactyly of the 5th toe First degree atrioventricular block Upslanted palpebral fissure Low-set, posteriorly rotated ears Periodic paralysis Dandy-Walker malformation Scrotal hypoplasia Cutis laxa Generalized hirsutism Thickened skin Abnormality of the face Hypertrichosis Abnormality of the skin Abnormality of the pinna Nevus Microcornea Flat face Severe global developmental delay Microtia Retinopathy Blepharophimosis Delayed eruption of permanent teeth Abnormal T-wave Overfolded helix Broad nasal tip Palpitations Specific learning disability Arrhythmia Short metacarpal Syncope Sudden cardiac death Triangular face Cardiac arrest Hypoplasia of the maxilla High, narrow palate Limb muscle weakness Toe syndactyly Dolichocephaly Dilated cardiomyopathy Retrognathia Short phalanx of finger Bilateral single transverse palmar creases Abnormal atrioventricular conduction Right bundle branch block Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Short finger Prolonged QT interval 2-3 toe syndactyly Scapular winging Myotonia Short metatarsal Growth abnormality Ventricular arrhythmia Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Optic nerve hypoplasia Tricuspid regurgitation Short columella Arachnodactyly Nail dysplasia Dental malocclusion Prominent nose Ectodermal dysplasia Sleep disturbance Long face Talipes Decreased testicular size Joint hyperflexibility Facial asymmetry Abnormality of the foot Attention deficit hyperactivity disorder Camptodactyly Osteopenia Hyperhidrosis Convex nasal ridge Hemiparesis Midface retrusion Bilateral talipes equinovarus Self-mutilation Narrow nose Restlessness Abnormality of digit Long nose Myopathic facies Abnormality of dental morphology Thin skin Dermal atrophy Relative macrocephaly Tented upper lip vermilion Microretrognathia Dental crowding Broad thumb Broad-based gait Osteoporosis Abnormality of the dentition Long fingers Upper limb asymmetry Gastroesophageal reflux Recurrent respiratory infections Intrauterine growth retardation Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Periorbital fullness Respiratory tract infection Lower limb asymmetry Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Hypertrophic cardiomyopathy Highly arched eyebrow Macrocephaly Prominent metopic ridge Skull asymmetry Curly eyelashes Semilobar holoprosencephaly Limited elbow movement Hemihypertrophy Enlarged cisterna magna Cutis marmorata Short foot Proximal placement of thumb Aortic regurgitation Holoprosencephaly Decreased body weight Mitral regurgitation Ventricular hypertrophy Mitral valve prolapse Everted upper lip vermilion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Short distal phalanx of finger, related diseases and genetic alterations Myopathy and Decreased fetal movement, related diseases and genetic alterations Pain and Hypertrichosis, related diseases and genetic alterations Immunodeficiency and Clinodactyly, related diseases and genetic alterations

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