Dysarthria, and Lymphedema

Diseases related with Dysarthria and Lymphedema

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

Top matches:

Medium match WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Medium 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

Other less relevant matches:

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs|ataxia, chorea, seizures, and dementia|haw river syndrome|nod|naito-oyanagi disease|myoclonic epilepsy with choreoathetosis

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

Top 5 symptoms//phenotypes associated to Dysarthria and Lymphedema

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Ptosis

Uncommon Symptoms - Between 30% and 50% cases

Long philtrum

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Generalized hypotonia Ventricular septal defect Sparse hair Atrial septal defect Delayed skeletal maturation Downslanted palpebral fissures Cryptorchidism Macrocephaly Neoplasm Webbed neck Short nose Ataxia Ventriculomegaly Cognitive impairment Myopia Dental malocclusion Anteverted nares High, narrow palate Edema Abnormality of the dentition Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Thick vermilion border Curly hair Short stature High palate Feeding difficulties Nevus Hepatomegaly Thrombocytopenia Pectus excavatum Neurological speech impairment Pulmonic stenosis Hydronephrosis Gastroesophageal reflux Delayed speech and language development Clinodactyly Umbilical hernia Behavioral abnormality Hernia Abnormal facial shape Macrotia Inguinal hernia Cerebellar atrophy High forehead Abnormality of the testis Immunodeficiency Recurrent infections Abnormal mitral valve morphology Pleural effusion Failure to thrive in infancy Hypoglycemia Arrhythmia Low-set ears Frontal bossing Decreased body weight Cerebral atrophy Camptodactyly Abnormality of the pinna Posteriorly rotated ears Abnormality of the skeletal system Cerebral cortical atrophy Optic atrophy Leukemia Cafe-au-lait spot Overgrowth Fine hair Polyhydramnios Growth delay Failure to thrive Sensorineural hearing impairment Prominent forehead Dysphagia Short neck Midface retrusion Patent ductus arteriosus Constipation Proptosis Coarse facial features Bilateral ptosis Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Feeding difficulties in infancy Pectus carinatum Joint hyperflexibility Joint hypermobility Bruising susceptibility Talipes equinovarus Cubitus valgus Depressed nasal bridge Muscle weakness Irritability Hyperhidrosis Abnormality of the optic nerve Bulbous nose Pointed chin Large for gestational age Absent speech Full cheeks Sleep disturbance Hypermetropia Tall stature Narrow palate Dolichocephaly Microcephaly Cutis laxa

Rare Symptoms - Less than 30% cases

Arnold-Chiari type I malformation Long eyelashes Short chin Generalized hyperpigmentation Ascites Woolly hair Multiple cafe-au-lait spots Abnormal bleeding Coarctation of aorta Abnormality of the sternum Flexion contracture Cellulitis Neurodevelopmental delay Low posterior hairline Thick lower lip vermilion Abnormality of the genital system Aortic aneurysm Hypoplastic toenails Intracranial hemorrhage Delayed puberty Pain Hypertonia Hyperextensibility of the finger joints Tongue thrusting Motor delay Respiratory insufficiency Pes cavus Myopathy Intellectual disability, mild Respiratory failure Intellectual disability, moderate Hypogonadism Thick upper lip vermilion Wide mouth Deep palmar crease Kyphoscoliosis Wide nose Kyphosis Delayed CNS myelination Arnold-Chiari malformation Hematuria Postnatal growth retardation Abnormal dermatoglyphics Melanocytic nevus Tapered finger Malar flattening Cerebral visual impairment Spasticity Hyperpigmentation of the skin Narrow forehead Optic nerve dysplasia Cardiomyopathy Vomiting Splenomegaly Verrucae Growth hormone deficiency Delayed gross motor development Abnormal heart morphology Premature birth Vesicoureteral reflux Astigmatism Hyperkeratosis Autism Osteopenia EEG abnormality Aggressive behavior Scarring Hemangioma Abnormal location of ears Heart murmur Premature skin wrinkling Chronic otitis media Abnormal cardiac septum morphology Prolonged bleeding time Nausea and vomiting Sparse eyebrow Redundant skin Hyperextensible skin Thickened nuchal skin fold Acute leukemia Poor suck Puberty and gonadal disorders Abnormality of refraction Redundant neck skin Relative macrocephaly Thickened helices Myeloproliferative disorder Abnormality of the pulmonary artery Multiple lentigines Intestinal lymphangiectasia Abnormal pulmonary valve morphology Hyperkeratosis pilaris Hydrocephalus Mitral valve prolapse Joint laxity Abnormality of the fingernails Overlapping toe Deeply set eye Abnormality of the nervous system Mandibular prognathia Basal ganglia calcification Palmoplantar keratoderma Abnormality of the eye Acute lymphoblastic leukemia Brittle hair Deep-set nails Abnormality of vision Abnormality of dental enamel Wide nasal bridge Abnormality of the nail Dental crowding Hypoplasia of dental enamel Abnormality of the periventricular white matter Abnormality of the cerebral white matter Large earlobe Hypotrichosis Broad forehead Hypotelorism Broad philtrum Prominent fingertip pads Fragile nails Thin nail Retinal dysplasia Brachydactyly Hoarse voice Cataract Broad thumb Accelerated skeletal maturation Visual loss Syndactyly Neonatal hypotonia Blindness Slow-growing hair Upslanted palpebral fissure Gait disturbance Lymphoma Large hands Personality changes Large forehead Recurrent skin infections Achilles tendon contracture Central hypotonia Progeroid facial appearance Involuntary movements Syringomyelia Megalencephaly Barrel-shaped chest Recurrent upper respiratory tract infections Hepatitis Neonatal hypoglycemia Renal cyst Microscopic hematuria Soft skin Prominent supraorbital ridges Obstructive sleep apnea Severe postnatal growth retardation Papilloma Poor head control Fasting hypoglycemia Abnormality of earlobe Renal dysplasia Schwannoma Nephrolithiasis Broad femoral neck Rhabdomyosarcoma Pneumothorax Concave nail Choreoathetosis Broad-based gait Hypoplasia of teeth Limited elbow movement Peripheral demyelination Asymmetric septal hypertrophy Labial hypoplasia Hypohidrosis Lack of skin elasticity Multicystic kidney dysplasia Sacral dimple Fetal distress Abnormality of the outer ear Central apnea Bronchomalacia Increased intracranial pressure Chronic diarrhea Angina pectoris Tracheomalacia Myoclonus Abnormality of the skin Sepsis Macroglossia Tetraplegia Hyperorality Fulminant hepatic failure Postural instability Hair-pulling Recurrent pyelonephritis Dilatation Dementia Tachycardia Arthrogryposis multiplex congenita Apnea Cerebellar cortical atrophy Mental deterioration Carcinoma Abnormal pyramidal sign Osteoporosis Severe short stature Renal insufficiency Generalized myoclonic seizures Neuronal loss in central nervous system Hypertension Chorea Oral aversion Multiple plantar creases Delayed myelination Eyelid fasciculation Hip dysplasia Eczema Ulnar deviation of finger Hyperglycemia Polycystic kidney dysplasia Rhabdomyolysis Neuroblastoma 2-3 toe syndactyly Weak cry Poor eye contact Keratoconus Reduced subcutaneous adipose tissue Rocker bottom foot Palpebral edema Tricuspid regurgitation Arachnoid cyst Bilateral cryptorchidism Bruxism Apraxia Pyloric stenosis Heat intolerance Laryngomalacia Infantile muscular hypotonia Concave nasal ridge Acanthosis nigricans Periorbital fullness Abnormality of the hair Episodic vomiting Hydrops fetalis Wide anterior fontanel Toenail dysplasia Atrial fibrillation Epidermal acanthosis Impaired pain sensation Hepatic failure Large face Tented upper lip vermilion Synophrys Smooth philtrum Downturned corners of mouth Retinal detachment Highly arched eyebrow Renal agenesis Dandy-Walker malformation Bilateral sensorineural hearing impairment Exotropia Progressive microcephaly Abnormal intestine morphology Widely spaced teeth Hypercoagulability Hypoalbuminemia Short philtrum Acute myeloid leukemia Myeloid leukemia Proximal placement of thumb Unilateral renal agenesis Leukocytosis Pericardial effusion Myelodysplasia Leukopenia Bone marrow hypocellularity Congenital nystagmus Pancytopenia Migraine Mild microcephaly Granulocytopenia Thin upper lip vermilion Hemolytic anemia Abnormal neutrophil count Meningioma Capillary hemangioma Lipoma Hashimoto thyroiditis Irregular hyperpigmentation Hamartoma Multiple lipomas Cutis marmorata Thyroid carcinoma Cachexia Telangiectasia Subcutaneous nodule Skeletal muscle atrophy Macronodular cirrhosis Abnormality of the auditory canal Erysipelas Intestinal polyposis Visceral angiomatosis Neoplasm of the breast Hamartomatous polyposis Subcutaneous hemorrhage Abdominal wall muscle weakness Uterine neoplasm Abnormal large intestine morphology Neoplasm of the adrenal cortex Hypoplasia of the corpus callosum Hypospadias Cerebellar hypoplasia Reduced visual acuity Protein-losing enteropathy Anomalous pulmonary venous return Deep plantar creases Hypopnea Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Facial asymmetry Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Shyness Macrocephaly at birth Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Bladder neoplasm Capillary malformation Unsteady gait Arteriovenous malformation Atrophy of the dentate nucleus Triangular mouth Thick eyebrow Melena Hematemesis Autistic behavior Enlarged cerebellum Cirrhosis Obesity Lymphadenopathy Total anomalous pulmonary venous return Vertigo Increased mean platelet volume Pallor Weight loss Recurrent respiratory infections Macrothrombocytopenia Flared nostrils Eversion of lateral third of lower eyelids Diarrhea Headache Fatigue Fever Protruding ear Hyporeflexia Anemia Increased corneal curvature Systolic heart murmur Agenesis of corpus callosum Thickened Achilles tendon Congenital neuroblastoma Hyperactivity Anxiety Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Multiple palmar creases Pruritus Inappropriate crying High hypermetropia Abnormal cortical bone morphology Short hallux Mild global developmental delay Low hanging columella Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Metaphyseal dysplasia Narrow nasal bridge Neurogenic bladder Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Hand polydactyly Preaxial polydactyly Reduced number of teeth Spastic tetraparesis Spastic paraparesis Paraparesis Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of the nose Dry hair Tetraparesis Tooth abscess Scapular winging Hypogonadotrophic hypogonadism Aortic valve stenosis Amblyopia Mitral regurgitation Tetralogy of Fallot Wide intermamillary distance Otitis media Triangular face Hepatosplenomegaly Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology 3-4 toe syndactyly Short middle phalanx of the 5th finger Hyperintensity of cerebral white matter on MRI Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Broad columella Trichorrhexis nodosa Short palpebral fissure Cerebral calcification Abnormality of the urinary system Metatarsus adductus Poor fine motor coordination Dimple chin Dilation of lateral ventricles Broad face Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Flat occiput Thoracolumbar kyphosis Radial deviation of finger Back pain Slurred speech Coxa valga Short ribs Joint contracture of the hand Pachygyria Hypertrichosis Amenorrhea Nail dysplasia Round face Talipes Platyspondyly Retrognathia Calcaneovalgus deformity Teratoma Microdontia Polydactyly Underdeveloped nasal alae Microcornea Flat face Cleft upper lip Paresthesia Paraplegia Toe syndactyly Carious teeth Spastic paraplegia Hip dislocation Finger syndactyly Camptodactyly of finger Blepharophimosis Conductive hearing impairment Glaucoma Galactorrhea Microphthalmia Hyperreflexia Visual impairment Cleft palate Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Horizontal eyebrow Vertebral wedging Short fourth metatarsal Coarse hair Radioulnar synostosis Cutaneous T-cell lymphoma Scaling skin Anal stenosis Submucous cleft hard palate Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurofibromas Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Absent eyebrow Obsessive-compulsive behavior Ectropion Deep philtrum Poor appetite Palmoplantar hyperkeratosis Optic nerve hypoplasia Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Aspiration Thickened skin Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Underdeveloped supraorbital ridges Atopic dermatitis Abnormality of the cardiovascular system Cavernous hemangioma Morphological abnormality of the gastrointestinal tract Abnormality of the hairline Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Abnormality of hair texture Alopecia of scalp Excessive wrinkled skin Abnormal aortic valve morphology Subvalvular aortic stenosis Gastrointestinal dysmotility Abnormal myocardium morphology Dystrophic fingernails Abnormal hair pattern Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Abnormal eyelash morphology Cardiomegaly Progressive visual loss Abnormality of the thorax Shield chest Reduced factor XII activity Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Unilateral ptosis Abnormality of the mandible Prolonged QRS complex Abnormality of the lymphatic system Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Elevated circulating luteinizing hormone level Aplasia/Hypoplasia of the abdominal wall musculature Prominent nasolabial fold Abnormality of the spleen Elevated circulating follicle stimulating hormone level Abnormality of the helix High anterior hairline Abnormality of the mouth Pulmonary artery stenosis Aortic root aneurysm Thoracic scoliosis Male infertility Abnormality of digit Cystic hygroma Atrioventricular canal defect Abnormality of coagulation Myopathic facies Superior pectus carinatum Amegakaryocytic thrombocytopenia Intestinal malrotation Telecanthus Abdominal distention Hepatic steatosis Retinal dystrophy Falls Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Genu valgum Nail dystrophy Erythema Respiratory tract infection Abnormality of the kidney Alopecia Neurofibrosarcoma Encephalopathy Depressivity Congestive heart failure Intellectual disability, severe Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Fetal cystic hygroma


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