Dysarthria, and Sloping forehead

Diseases related with Dysarthria and Sloping forehead

In the following list you will find some of the most common rare diseases related to Dysarthria and Sloping forehead that can help you solving undiagnosed cases.

Top matches:

Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Absent speech
  • Intellectual disability, moderate


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE; MCPH21

Related symptoms:

  • Seizures
  • Microcephaly
  • Cognitive impairment
  • Intellectual disability, severe
  • Retrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Top 5 symptoms//phenotypes associated to Dysarthria and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Sloping forehead. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Short stature Cortical gyral simplification Cerebellar hypoplasia Motor delay Pachygyria Polymicrogyria Intellectual disability, severe Intrauterine growth retardation Abnormal facial shape Spasticity Intellectual disability, moderate Hypoplasia of the corpus callosum Agenesis of corpus callosum Delayed speech and language development Severe short stature Ataxia Ventriculomegaly Hearing impairment Lissencephaly Narrow forehead Heterotopia

Rare Symptoms - Less than 30% cases

Micrognathia Hyperactivity Tetraparesis Spastic tetraparesis Unilateral renal agenesis Mild short stature Prominent nose Ectopic kidney Attention deficit hyperactivity disorder Abnormal corpus callosum morphology Strabismus Cardiomyopathy Hyperreflexia Long philtrum Retrognathia Neurological speech impairment Cognitive impairment Abnormal pyramidal sign Craniosynostosis Postnatal growth retardation Partial agenesis of the corpus callosum Intellectual disability, profound Nystagmus Cerebellar atrophy Wide nasal bridge Micropenis Cryptorchidism Cleft lip Short chin Slurred speech Goiter Leukopenia Holoprosencephaly Lobar holoprosencephaly Postural tremor Acanthosis nigricans Proptosis Highly arched eyebrow Dysdiadochokinesis High pitched voice Bilateral cryptorchidism Sensory axonal neuropathy Increased circulating gonadotropin level Long neck Truncal obesity Gastrointestinal stroma tumor Multinodular goiter Glioma Long nose Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Cerebellar vermis atrophy Abnormality of lipid metabolism Cortical dysplasia Optic atrophy Prominent glabella Progressive microcephaly Tapered finger Full cheeks Brain atrophy Hypsarrhythmia Status epilepticus Open mouth Severe muscular hypotonia Kyphoscoliosis Central hypotonia Infantile encephalopathy Pneumonia Small hand Short foot Round face Restrictive cardiomyopathy Neonatal hypotonia Myoclonus Hypoplasia of the frontal lobes Impulsivity Small cerebral cortex Thick corpus callosum Unilateral polymicrogyria Aggressive behavior Decreased fetal movement Thick lower lip vermilion Hemiparesis Maternal diabetes Encephalopathy Schizencephaly Generalized hypotonia Epicanthus Hypergonadotropic hypogonadism Edema Hypertonia Short nose Bone marrow hypocellularity Hypermetropia Lymphopenia Anemia Abnormality of the spinal cord Gray matter heterotopias Short corpus callosum Neoplasm Sensorineural hearing impairment Cataract Peripheral neuropathy Cardiorespiratory arrest Tremor Gait disturbance Immunodeficiency Recurrent infections Midface retrusion Thrombocytopenia Hernia Duodenal atresia Severe failure to thrive Clinodactyly Microphallus Ptosis Intellectual disability, mild Muscular hypotonia of the trunk Severe global developmental delay Bulbous nose Spontaneous abortion Abnormality of neuronal migration Agyria Multiple joint contractures Type I lissencephaly Subependymal nodules Failure to thrive Flexion contracture Hypospadias EEG abnormality Poor speech Obesity Inguinal hernia Insulin resistance Pigmentary retinopathy Triangular face Broad nasal tip Progressive cerebellar ataxia Renal agenesis Convex nasal ridge Decreased testicular size Limb undergrowth Bradykinesia Sensory neuropathy Hypotelorism Apraxia Epidermal acanthosis Renal hypoplasia Cutaneous photosensitivity Broad-based gait Abnormal lung morphology Polyneuropathy Falls Babinski sign Rigidity Pes cavus Hypogonadism Diabetes mellitus Hypothyroidism Mandibular prognathia High forehead Deeply set eye Sparse hair Long face Retinopathy Short philtrum Prominent nasal bridge Small for gestational age Dilated cardiomyopathy Synophrys Dysmetria Metaphyseal sclerosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and High myopia, related diseases and genetic alterations