Abnormal facial shape, and Apraxia

Diseases related with Abnormal facial shape and Apraxia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Apraxia that can help you solving undiagnosed cases.


Top matches:

Low match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Low match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Low match 16P13.2 MICRODELETION SYNDROME


16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

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Other less relevant matches:

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Low match VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Low match ADENYLOSUCCINATE LYASE DEFICIENCY


Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Low match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Low 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

Low match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Apraxia

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

Patients with Abnormal facial shape and Apraxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Absent speech Microcephaly Autistic behavior Speech apraxia Cognitive impairment Cerebellar atrophy Anteverted nares Focal-onset seizure Generalized-onset seizure Strabismus Muscular hypotonia Low-set ears Stereotypy Postnatal microcephaly Spasticity Visual impairment Developmental regression Inability to walk Cerebral visual impairment Hypertonia Constipation Severe global developmental delay Broad forehead Aggressive behavior Delayed myelination Depressed nasal bridge Hyperactivity Dysarthria Tall stature Intellectual disability, severe EEG abnormality Intellectual disability, mild Encephalopathy Autism Nystagmus

Rare Symptoms - Less than 30% cases


Gait ataxia Poor speech Polymicrogyria Brisk reflexes Ptosis Prominent forehead Hypertelorism Hearing impairment Growth delay Abnormal cerebellum morphology Optic atrophy Hypoplasia of the corpus callosum Intellectual disability, moderate Muscular hypotonia of the trunk Macrocephaly CNS hypomyelination Developmental stagnation Cerebral hypomyelination Feeding difficulties Long philtrum Cerebral atrophy Myoclonus Thin upper lip vermilion Hypsarrhythmia Poor eye contact Self-mutilation Thick lower lip vermilion Cerebellar vermis hypoplasia Blindness Molar tooth sign on MRI Behavioral abnormality Attention deficit hyperactivity disorder Large for gestational age Epileptic spasms Oromotor apraxia Generalized myoclonic seizures Status epilepticus Epileptic encephalopathy Language impairment Febrile seizures Oculomotor apraxia Joint hypermobility Kyphoscoliosis Gastroesophageal reflux Ileus Short palm Deeply set eye Chronic constipation Thick vermilion border Small hand Short foot Tapered finger Sleep disturbance Sloping forehead Myopathic facies Respiratory failure Urethral stenosis Impaired social interactions Abnormality of the sternum Broad nasal tip Overgrowth Accelerated skeletal maturation Poor hand-eye coordination Optic nerve hypoplasia Neurofibromas Unilateral cryptorchidism High palate Abnormal pulmonary valve morphology Abnormality of creatine metabolism Duodenal ulcer Cranial asymmetry Aplasia/Hypoplasia of the optic nerve Scoliosis Athetosis Progressive microcephaly Intellectual disability, profound Clumsiness Malar flattening Midface retrusion Exotropia Abnormality of metabolism/homeostasis Pes cavus Mandibular prognathia Aganglionic megacolon Neonatal hypotonia Feeding difficulties in infancy Vomiting Irritability Choreoathetosis Hypermetropia Open mouth Ophthalmoplegia Joint hyperflexibility Long face Chorea Dystonia Narrow face Tetraparesis External ophthalmoplegia Parkinsonism Spastic tetraparesis Mask-like facies Redundant skin Loss of consciousness Infantile spasms Hyperventilation Cachexia Bruxism Gait disturbance Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Short stature Failure to thrive Motor delay Pulmonic stenosis Skeletal muscle atrophy Pectus carinatum Osteoporosis Premature adrenarche Hyperreflexia Wide nasal bridge Myopia Tremor Postaxial polydactyly Cerebellar hypoplasia Osteopenia Perseveration Dysmetria Unsteady gait Hip dysplasia Narrow forehead Polydactyly Infantile muscular hypotonia Rod-cone dystrophy Central sleep apnea Delayed cranial suture closure Telecanthus Perisylvian polymicrogyria Neurological speech impairment Progressive cerebellar ataxia Urinary incontinence Hemiparesis Dysdiadochokinesis Dysphasia Aphasia Agnosia Hallux valgus EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Elongated superior cerebellar peduncle Cryptorchidism Clinodactyly of the 5th finger Micropenis Large fontanelles Trigonocephaly Hydronephrosis Scarring Abnormality of cardiovascular system morphology Flat occiput Diffuse white matter abnormalities Temperature instability Short nose Brachycephaly Wide mouth Smooth philtrum Impulsivity Opisthotonus Delayed CNS myelination Cerebellar vermis atrophy Prominent metopic ridge Short attention span Happy demeanor Inappropriate laughter Hypointensity of cerebral white matter on MRI Downslanted palpebral fissures Neurogenic bladder Limb hypertonia Nyctalopia Ventriculomegaly Highly arched eyebrow Progressive visual loss Recurrent urinary tract infections Multicystic kidney dysplasia Cone/cone-rod dystrophy Sensorineural hearing impairment Flexion contracture Frontal bossing Central hypotonia Reduced visual acuity Coarse facial features Hepatosplenomegaly Leukodystrophy Abnormal autonomic nervous system physiology Focal impaired awareness seizure Multiple joint contractures Abnormality of the periventricular white matter Underfolded superior helices



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