Abnormal facial shape, and Developmental regression

Diseases related with Abnormal facial shape and Developmental regression

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1


IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

Medium match PITT-HOPKINS-LIKE SYNDROME


Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about PITT-HOPKINS-LIKE SYNDROME

Medium 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

Medium match CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME


Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Is also known as cdfe syndrome|cortical dysplasia-focal epilepsy syndrome|cdfes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Medium match KLEEFSTRA SYNDROME 2; KLEFS2


Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Medium match ALKALINE CERAMIDASE 3 DEFICIENCY


ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency|acer3-related early childhood-onset progressive leukodystrophy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALKALINE CERAMIDASE 3 DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Developmental regression

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Microcephaly Epileptic encephalopathy Coarse facial features Hyperactivity Intellectual disability, severe Delayed speech and language development Dystonia Encephalopathy Smooth philtrum Focal-onset seizure Hypoplasia of the corpus callosum Febrile seizures Cerebral atrophy Autistic behavior Short stature Ataxia Ptosis Hypertelorism

Rare Symptoms - Less than 30% cases


Strabismus Feeding difficulties Stereotypy Constipation Gastroesophageal reflux Wide mouth Scoliosis Choreoathetosis Muscular hypotonia of the trunk Delayed myelination Hyperventilation Motor delay Flexion contracture Thick eyebrow Brachycephaly Inability to walk Synophrys Mild microcephaly Bruxism Cerebellar hypoplasia Aggressive behavior Nystagmus Growth delay Neurological speech impairment Cognitive impairment Generalized-onset seizure Language impairment Dysarthria Status epilepticus Behavioral abnormality Hemiparesis Unsteady gait Autism Generalized myoclonic seizures EEG abnormality Macrotia Cerebral cortical atrophy Generalized tonic-clonic seizures Hypertonia Ventriculomegaly Developmental stagnation Epicanthus Thin upper lip vermilion Micrognathia Depressed nasal bridge Prominent nose Progressive language deterioration Flared nostrils Unilateral ptosis Relative macrocephaly Impaired social interactions Cortical dysplasia Loss of consciousness Delayed gross motor development Sloping forehead Optic disc pallor Reduced tendon reflexes Thick lower lip vermilion Chorea Everted lower lip vermilion Limb hypertonia Gliosis Upslanted palpebral fissure Midface retrusion Short nose Kyphosis Highly arched eyebrow Hydrocephalus Downslanted palpebral fissures Thick vermilion border High palate Increased CSF lactate Exotropia Dandy-Walker malformation Increased serum lactate Leukodystrophy Areflexia Cerebellar vermis hypoplasia Lethargy Duplication of thumb phalanx Irritability Low-set ears Peripheral neuropathy Kyphoscoliosis Visual loss Tremor Optic atrophy Macrocephaly Hyperreflexia Deeply set eye Hypertrichosis Short philtrum Poor speech Aphasia Esotropia Dysmetria Facial palsy Cerebellar atrophy Dysphagia Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Speech apraxia Epileptic spasms Dysphasia Corpus callosum atrophy Dysdiadochokinesis Apraxia Urinary incontinence Progressive cerebellar ataxia Polymicrogyria Attention deficit hyperactivity disorder Intellectual disability, moderate Multifocal seizures Multifocal epileptiform discharges Cerebral visual impairment Hypsarrhythmia Talipes Visual impairment Loss of speech Myoclonus Apnea Hypotelorism Abnormality of the nervous system Hyporeflexia Horizontal eyebrow Abnormality of the cerebellar vermis Unilateral cleft lip Overweight Slender finger Truncal obesity Severe muscular hypotonia Low anterior hairline Progressive microcephaly Postnatal microcephaly Round face Pulmonic stenosis Downturned corners of mouth Cleft upper lip Abnormality of the cerebral white matter Cleft lip Neonatal hypotonia Obesity Short neck Wide nasal bridge Protruding tongue Atonic seizures Self-injurious behavior Drooling Broad-based gait Neurogenic bladder



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Cerebellar vermis hypoplasia, related diseases and genetic alterations Delayed speech and language development and Renal dysplasia, related diseases and genetic alterations Lymphoma and Abnormal bleeding, related diseases and genetic alterations Skeletal muscle atrophy and Pulmonic stenosis, related diseases and genetic alterations Ptosis and Generalized seizures, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more