Brachydactyly, and Focal seizures, afebril

Diseases related with Brachydactyly and Focal seizures, afebril

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


Top matches:

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 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

Mendelian

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

Learn more

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 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Low match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Low match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

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 CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Intellectual disability Low-set ears Hearing impairment Optic atrophy Hyperactivity Hypertelorism Feeding difficulties Microcephaly Downturned corners of mouth Abnormal facial shape Focal impaired awareness seizure Depressed nasal bridge Febrile seizures Myopia Anteverted nares Cyanosis

Rare Symptoms - Less than 30% cases


Dyskinesia Strabismus Apnea Generalized tonic-clonic seizures Normal interictal EEG Stereotypy Choreoathetosis Generalized-onset seizure Ataxia Migraine Brachycephaly Myoclonus Delayed speech and language development Open mouth Thin upper lip vermilion Cerebral atrophy Hypermetropia Delayed myelination Hemiclonic seizures Spasticity Clinodactyly Downslanted palpebral fissures Everted lower lip vermilion Iris coloboma Short philtrum Coloboma Deeply set eye Autism Short nose Fever Dystonia Behavioral abnormality Short neck Developmental regression Mandibular prognathia Frontal bossing Aggressive behavior Edema Severe global developmental delay Small for gestational age Intellectual disability, moderate Positive Romberg sign Muscular hypotonia of the trunk Bifid uvula Poor speech Inflammatory abnormality of the skin Subcutaneous nodule Autoimmunity Pes planus Scarring Short distal phalanx of finger Wide nose Intrauterine growth retardation Hypoplasia of the maxilla Vesicoureteral reflux Sloping forehead Thrombocytopenia Oligohydramnios Ventricular hypertrophy Small nail Tetraparesis Ventricular septal defect Epicanthus Wide nasal bridge Abnormality of the outer ear Gastroesophageal reflux Periorbital edema Joint laxity Recurrent viral infections Episodic fever Astigmatism Broad nasal tip Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Cerebral visual impairment Pointed chin Cone/cone-rod dystrophy Vasculitis Abnormal electroretinogram Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Hypoglycemic seizures Failure to thrive Micrognathia Cleft palate Combined immunodeficiency Ptosis Immunodeficiency Wide anterior fontanel Progressive microcephaly Abnormality of the basal ganglia Dysmetria Dysphagia Headache High myoinositol in brain by MRS Impaired distal proprioception Autonomic bladder dysfunction Abnormality of ocular smooth pursuit Intellectual disability, mild Babinski sign Cerebellar hypoplasia Vertical supranuclear gaze palsy Cerebral cortical atrophy Delayed puberty Delayed eruption of teeth Peripheral neuropathy Hypodontia Intention tremor Clumsiness Leukodystrophy Hypogonadotrophic hypogonadism Drooling Oligodontia CNS hypomyelination Postural tremor Impaired vibration sensation in the lower limbs Spastic dysarthria Upper motor neuron dysfunction Hyperreflexia Craniosynostosis Unicoronal synostosis Long palpebral fissure Bicoronal synostosis Short toe Metopic synostosis Brachyturricephaly Spastic tetraparesis Anterior plagiocephaly Cloverleaf skull Cleft soft palate Patent foramen ovale Coronal craniosynostosis Cortical gyral simplification Turricephaly Increased number of teeth Dolichocephaly Central hypotonia Short 5th finger Right ventricular hypertrophy Capillary malformation Visual field defect Abnormal hair whorl Triphalangeal thumb Trigonocephaly Wormian bones Hypotelorism Nystagmus Narrow forehead Narrow mouth Short chin Posteriorly rotated ears Hypochromic anemia Pericardial effusion Protruding tongue Distal arthrogryposis Protuberant abdomen Insomnia Abnormality of the skull Edema of the lower limbs Beaking of vertebral bodies Communicating hydrocephalus Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Hyperplasia of the maxilla Recurrent upper respiratory tract infections 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 Anisopoikilocytosis Short digit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Intervertebral space narrowing Dysplastic aortic valve Heart murmur Increased intracranial pressure Abnormality of nasopharyngeal adenoids Postnatal growth retardation Hepatomegaly Macrocephaly Abnormality of the skeletal system Kyphosis Inguinal hernia Prominent forehead Proptosis Dyspnea Kyphoscoliosis Coarse facial features Umbilical hernia Hepatosplenomegaly Joint stiffness Tachypnea Tachycardia Ascites Macroglossia Limitation of joint mobility Abnormality of the cardiovascular system Mitral valve prolapse Pulmonary arterial hypertension Recurrent otitis media Mitral regurgitation Abnormality of the face Thickened skin Progressive hearing impairment Localized skin lesion Muscle fibrillation Rod-cone dystrophy Agenesis of cerebellar vermis Epileptic encephalopathy Broad-based gait Heterotopia Absence seizures Plagiocephaly Optic nerve hypoplasia Tented upper lip vermilion Cupped ear Infantile spasms Poor eye contact Abnormality of the periventricular white matter Large earlobe Periventricular leukomalacia Generalized myoclonic seizures Abnormal corpus callosum morphology Abnormality of nervous system morphology Happy demeanor Frontal cortical atrophy Periventricular white matter hyperdensities Sensorineural hearing impairment High palate Blindness Abnormality of cardiovascular system morphology Midface retrusion Hernia Constipation Convex nasal ridge Short foot Atonic seizures Ventriculomegaly Generalized tonic-clonic seizures with focal onset Anxiety Involuntary movements Writer's cramp Paroxysmal dyskinesia Paroxysmal dystonia Paroxysmal choreoathetosis Pallor Loss of consciousness Growth delay Muscular hypotonia Motor delay Intellectual disability, severe Inability to walk Dilatation Absent speech Encephalopathy Upslanted palpebral fissure High forehead Macrotia EEG abnormality Protruding ear Autistic behavior Attention deficit hyperactivity disorder Broad forehead Toe syndactyly Thick eyebrow Lymphadenitis



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 Hypospadias, related diseases and genetic alterations Fever and Hirsutism, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more