Cleft palate, and Focal seizures, afebril

Diseases related with Cleft palate and Focal seizures, afebril

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


Top matches:

Low match TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME


TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3


Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3|bfnis|convulsions, benign familial infantile, 3|seizures, benign familial neonatal-infantile

Related symptoms:

  • Seizures
  • Fever
  • Apnea
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Low match INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

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Other less relevant matches:

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2


Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Low match FOCAL FACIAL DERMAL DYSPLASIA TYPE IV


Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM


Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Low match CLEFT PALATE, ISOLATED; CPI


Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

CLEFT PALATE, ISOLATED; CPI Is also known as cp|cleft palate

Related symptoms:

  • Seizures
  • Micrognathia
  • Cleft palate
  • Cleft lip
  • Oral cleft


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEFT PALATE, ISOLATED; CPI

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Top 5 symptoms//phenotypes associated to Cleft palate and Focal seizures, afebril

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Cyanosis

Rare Symptoms - Less than 30% cases


Cleft upper lip Low-set ears Febrile seizures Ataxia Apnea Normal interictal EEG Cognitive impairment Dyskinesia Mandibular prognathia Migraine Kyphoscoliosis Generalized-onset seizure Choreoathetosis Depressed nasal bridge Macrocephaly Generalized hypotonia Myopia Dystonia Bifid uvula Cleft lip Focal impaired awareness seizure Developmental regression Optic atrophy Intellectual disability, profound Narrow mouth Difficulty walking Myoclonus Intellectual disability, moderate Pectus excavatum Abnormality of the pinna Short philtrum Prominent nasal bridge Synophrys Absent speech Osteoporosis Camptodactyly Pectus carinatum Brachycephaly Dysarthria Talipes equinovarus Anisopoikilocytosis Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Hypochromic anemia Hyperplasia of the maxilla Abnormality of the optic disc J-shaped sella turcica Obstructive lung disease Morphological abnormality of the central nervous system Heparan sulfate excretion in urine Urinary glycosaminoglycan excretion Short digit Gait disturbance Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Intervertebral space narrowing Dysplastic aortic valve Localized skin lesion Abnormality of nasopharyngeal adenoids Hypertelorism Abnormal facial shape Muscular hypotonia Cryptorchidism Ptosis High palate Delayed speech and language development Abnormality of movement Facial asymmetry Webbed neck Smooth philtrum Confusion Long palm Asymmetry of the ears Micrognathia Oral cleft Gingival overgrowth Non-midline cleft lip Facial cleft Cleft soft palate Overbite Anterior open-bite malocclusion Headache Encephalocele Narrow palm Spina bifida Spina bifida occulta Calvarial skull defect Aplasia cutis congenita of scalp Parietal foramina Symmetrical, oval parietal bone defects Long philtrum Syndactyly Pes planus Thin vermilion border Flat occiput Submucous cleft hard palate Focal motor seizures Long hallux Arachnodactyly Tall stature Unsteady gait Bulbous nose High, narrow palate Recurrent fractures Postural instability Generalized myoclonic seizures Abnormality of the skull Wide intermamillary distance High myopia Thick lower lip vermilion Broad-based gait Dental crowding Small earlobe Hyperpigmentation of the skin Narrow face Spontaneous abortion Nasal speech Sparse eyebrow Decreased muscle mass Disproportionate tall stature Long fingers Slender finger Epileptic spasms Slender build Hyperextensibility of the finger joints Edema of the lower limbs Pulmonary arterial hypertension Insomnia Involuntary movements Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Impaired distal proprioception High myoinositol in brain by MRS Fever Muscle fibrillation Atonic seizures Generalized tonic-clonic seizures with focal onset Anxiety Stereotypy Abnormality of the basal ganglia Writer's cramp Paroxysmal dyskinesia Paroxysmal dystonia Paroxysmal choreoathetosis Pallor Generalized tonic-clonic seizures Loss of consciousness Microcephaly Hydrocephalus Sparse hair Scarring Positive Romberg sign Upper motor neuron dysfunction Nevus Delayed puberty Nystagmus Spasticity Peripheral neuropathy Hyperreflexia Dysphagia Hypoplasia of the corpus callosum Intellectual disability, mild Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Deeply set eye Dysmetria Spastic dysarthria Delayed eruption of teeth Hypodontia Intention tremor Clumsiness Leukodystrophy Hypogonadotrophic hypogonadism Drooling Oligodontia CNS hypomyelination Postural tremor Impaired vibration sensation in the lower limbs Carious teeth Abnormal blistering of the skin Protuberant abdomen Mitral valve prolapse Umbilical hernia Hepatosplenomegaly Aggressive behavior Postnatal growth retardation Joint stiffness Tachycardia Ascites Macroglossia Limitation of joint mobility Abnormality of the cardiovascular system Recurrent otitis media Dyspnea Mitral regurgitation Abnormality of the face Thickened skin Progressive hearing impairment Tachypnea Increased intracranial pressure Recurrent upper respiratory tract infections Heart murmur Pericardial effusion Protruding tongue Distal arthrogryposis Coarse facial features Proptosis Hemiparesis Abnormal mast cell morphology Short chin Cutis laxa Hemangioma Dermal atrophy Intracranial hemorrhage Cupped ear Skin vesicle Aplasia cutis congenita Unilateral cleft lip Abnormality of the cheek Fragmented elastic fibers in the dermis Abnormality of buccal mucosa Hyperactivity Abnormality of epidermal morphology Hearing impairment Hepatomegaly Frontal bossing Abnormality of the skeletal system Short neck Edema Behavioral abnormality Kyphosis Inguinal hernia Prominent forehead Abnormally large globe



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Abnormal heart morphology, related diseases and genetic alterations Hyperreflexia and Gait ataxia, related diseases and genetic alterations Obesity and Polyhydramnios, related diseases and genetic alterations Strabismus and Macrocephaly, related diseases and genetic alterations

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