Dysarthria, and Triangular face

Diseases related with Dysarthria and Triangular face

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

Top matches:

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Other less relevant matches:

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

High match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Top 5 symptoms//phenotypes associated to Dysarthria and Triangular face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Triangular face. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment High palate Downslanted palpebral fissures Hearing impairment High forehead Prominent nasal bridge Dental malocclusion Gastroesophageal reflux Hypothyroidism Cryptorchidism Microcephaly Generalized hypotonia Small for gestational age Hypogonadism Feeding difficulties Growth delay Intellectual disability, moderate Sensorineural hearing impairment Hypoplasia of the corpus callosum Postnatal growth retardation Clinodactyly Scoliosis Failure to thrive Micrognathia Muscular hypotonia High pitched voice Intrauterine growth retardation Wide nasal bridge Frontal bossing Neoplasm Intellectual disability, mild Abnormality of cardiovascular system morphology Gait disturbance Mandibular prognathia Anxiety Feeding difficulties in infancy Sparse hair Broad forehead Diabetes mellitus Babinski sign Broad nasal tip Hypermetropia Smooth philtrum Apraxia Delayed puberty Micropenis Thin upper lip vermilion Deeply set eye Neurological speech impairment Dysphagia Epicanthus Wide mouth

Rare Symptoms - Less than 30% cases

Dysmetria Insulin-resistant diabetes mellitus Ventriculomegaly EEG abnormality Hepatomegaly Depressed nasal bridge Rigidity Long face Premature ovarian insufficiency Severe short stature Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Decreased testicular size Prominent nose Polyneuropathy Sensory neuropathy Delayed skeletal maturation Short palpebral fissure Hyperreflexia Peripheral neuropathy Expressive language delay Speech apraxia Language impairment Cardiomyopathy Pigmentary retinopathy Hepatosplenomegaly Low posterior hairline Constipation Atrial septal defect Short neck Brachydactyly Kyphoscoliosis Hydronephrosis Joint hyperflexibility Thin vermilion border Unilateral renal agenesis Otitis media Coarctation of aorta Nephrocalcinosis Retinopathy Short philtrum Inguinal hernia Thrombocytopenia Midface retrusion Tremor Nystagmus Dystonia Acanthosis nigricans Insulin resistance Epidermal acanthosis Failure to thrive in infancy Trigonocephaly Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Myopia Stereotypy Abnormality of the dentition Ataxia Myopathic facies Hypoplasia of the maxilla Abnormal heart morphology Posteriorly rotated ears Dental crowding Hyperactivity Attention deficit hyperactivity disorder Synophrys Neonatal hypotonia Low-set ears Delayed myelination Astigmatism Downturned corners of mouth Short chin Enuresis Villous atrophy 11 pairs of ribs Enlarged joints Abnormality of the pulmonary artery Short attention span Abnormality of the clavicle Abnormal pulmonary valve morphology Reduced factor VIII activity Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Pulmonary lymphangiectasia Hyperextensibility of the finger joints Varicocele Broad columella Epididymal cyst Abnormal soft palate morphology Hypoplasia of lymphatic vessels Broad fingertip Unilateral ptosis Curved fingers Enlarged naris Abnormal location of ears Congenital posterior urethral valve Tethered cord Congenital pseudoarthrosis of the clavicle Prominent fingertip pads Pseudoarthrosis Persistent left superior vena cava Short clavicles Short upper lip Spinal dysraphism Stiff neck Abnormal platelet function Reduced factor XII activity Proportionate short stature Craniosynostosis Underdeveloped nasal alae Amegakaryocytic thrombocytopenia Small hand Hirsutism Bulbous nose Poor speech Malabsorption Camptodactyly of finger Joint stiffness Microdontia Telecanthus Joint laxity Aggressive behavior Arthritis Conductive hearing impairment Umbilical hernia Neurofibrosarcoma Upslanted palpebral fissure Puberty and gonadal disorders Prominent nasolabial fold Hypoplasia of penis Obsessive-compulsive behavior Nasal speech Reduced factor XI activity Celiac disease Hyperparathyroidism Preauricular pit Mesocardia Impulsivity Clubbing Abnormality of the voice Abnormality of the hand Superior pectus carinatum Abnormality of the fingernails Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Broad thumb Recurrent otitis media Hyperkeratosis pilaris Interphalangeal joint contracture of finger Generalized cerebral atrophy/hypoplasia Patent ductus arteriosus Muscle weakness Curly hair Abnormality of the mouth Pulmonary artery stenosis Highly arched eyebrow Acute lymphoblastic leukemia Focal-onset seizure Generalized-onset seizure Aortic root aneurysm Thoracic scoliosis Male infertility Abnormality of the lymphatic system Abnormality of digit Aplasia of lymphatic vessels Cystic hygroma Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Absent speech Prominent digit pad Melanocytic nevus Abnormality of the spleen Abnormal hair quantity Synovitis Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Abnormality of the vestibular nerve Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix Abnormality of the testis High anterior hairline Premature skin wrinkling Chylothorax Acute leukemia Thickened nuchal skin fold Cubitus valgus Pleural effusion Ptosis Pectus carinatum High, narrow palate Thick vermilion border Bruising susceptibility Intestinal lymphangiectasia Joint hypermobility Abnormal nipple morphology Pulmonic stenosis Morphological abnormality of the inner ear Hypertrophic cardiomyopathy Webbed neck Coarse facial features Aplasia of the semicircular canal Polyhydramnios Proptosis Arrhythmia Enlarged thorax Pectus excavatum Talipes equinovarus Ventricular septal defect Abnormal bleeding Wide intermamillary distance Abnormality of the thorax Prolonged QRS complex Bilateral ptosis Radioulnar synostosis Abnormality of the urinary system Coarse hair Multiple lentigines Abnormal anterior segment morphology Arnold-Chiari malformation Abnormal dermatoglyphics Scapular winging Tetralogy of Fallot Aortic valve stenosis Cafe-au-lait spot Lymphedema Amblyopia Abnormality of the mandible Abnormality of the genital system Mitral regurgitation Thick lower lip vermilion Mitral valve prolapse Decreased body weight Cataract Hypospadias Diarrhea Abnormality of movement Hypotrichosis Arthrogryposis multiplex congenita Protruding ear Camptodactyly Mental deterioration Alopecia Abnormality of metabolism/homeostasis Receptive language delay Dehydration Central sleep apnea Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Abnormality of chromosome segregation Echolalia Bipolar affective disorder Amenorrhea Bilateral sensorineural hearing impairment High hypermetropia Flat occiput Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Abnormality of extrapyramidal motor function Hyperlipidemia Purpura Hallucinations Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Fine hair Psychosis Poor eye contact Dysphasia Increased thyroid-stimulating hormone level Grasp reflex Decreased fetal movement Vesicoureteral reflux Muscular hypotonia of the trunk Prominent forehead Cerebellar hypoplasia Cerebellar atrophy Anteverted nares Pain Stuttering Poor head control Hydranencephaly Cogwheel rigidity Focal dystonia Limb dystonia Infantile spasms Lissencephaly Lower limb spasticity Flexion contracture Spasticity Abnormality of the genitourinary system Deep philtrum Open bite Abnormality of the kidney Abnormality of dental morphology Oral-pharyngeal dysphagia Patent foramen ovale Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Abnormality of the cardiovascular system Bifid uvula Autistic behavior Apnea Overfolded helix Autism Cleft palate Broad chin Overfolding of the superior helices Horizontal eyebrow Oval face Pain insensitivity Inverted nipples Delayed ability to walk Abnormal spermatogenesis Streak ovary Dilatation Hypotelorism Goiter Leukopenia Bone marrow hypocellularity Lymphopenia Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Renal hypoplasia Sloping forehead Dysdiadochokinesis Bradykinesia Limb undergrowth Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Falls Dilated cardiomyopathy Abnormal pyramidal sign Pes cavus Slurred speech Postural tremor Hernia Shuffling gait Headache Vomiting Abnormality of the skeletal system Hypertension Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Misalignment of teeth Bilateral cryptorchidism Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Obesity Recurrent infections Decreased serum insulin-like growth factor 1 Infertility Cyanosis Growth hormone deficiency Decreased antibody level in blood Nevus Abdominal distention Ascites Hypodontia Cirrhosis Dolichocephaly Type II diabetes mellitus Abnormality of the nervous system Depressivity Congestive heart failure Edema Macrocephaly Motor delay Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Overgrowth Increased body weight Immunodeficiency Weak voice Long philtrum Anemia Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Prominent superficial veins Pointed chin Myocardial fibrosis Microglossia Scaphocephaly Pericarditis Slender long bone Pulmonary fibrosis Nephroblastoma Cachexia Reduced tendon reflexes Obsessive-compulsive trait


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