Dysarthria, and Clinodactyly of the 5th finger

Diseases related with Dysarthria and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Dysarthria and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

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

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

Other less relevant matches:

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

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 WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM 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

Medium match MASA SYNDROME

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Top 5 symptoms//phenotypes associated to Dysarthria and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hearing impairment Clinodactyly Micrognathia Atrial septal defect Neurological speech impairment Ptosis Ataxia Cognitive impairment Spasticity Hyperreflexia Cryptorchidism Abnormal facial shape Constipation Umbilical hernia High forehead High palate Abnormality of cardiovascular system morphology Low-set ears Microcephaly Nystagmus Myopia Intellectual disability, mild Abnormality of the dentition Coarctation of aorta Epicanthus Dental malocclusion Ventricular septal defect Growth delay Feeding difficulties in infancy Gait disturbance Aggressive behavior Gastroesophageal reflux Behavioral abnormality Delayed skeletal maturation Short nose Sparse hair Abnormality of refraction Wide nasal bridge Feeding difficulties Camptodactyly of finger Cubitus valgus Abnormal heart morphology Inguinal hernia Kyphoscoliosis Hydronephrosis Joint hyperflexibility Otitis media Low posterior hairline Curly hair Failure to thrive Bilateral ptosis Hypogonadotrophic hypogonadism Pectus excavatum Abnormality of the fingernails Lymphedema Coarse facial features Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pulmonic stenosis Thick vermilion border Microdontia Optic atrophy Failure to thrive in infancy Brachydactyly Macrocephaly Dysphagia Vomiting Hypertonia Irritability Narrow forehead Visual impairment Autism Kyphosis Short neck Hypertelorism Cataract

Rare Symptoms - Less than 30% cases

Multiple lentigines Bulbous nose Small hand Triangular face Broad nasal tip Cardiomegaly Hyperkeratosis pilaris Hypoplasia of penis Abnormality of the cardiovascular system Interphalangeal joint contracture of finger Vesicoureteral reflux Recurrent otitis media Down-sloping shoulders Nephrocalcinosis Myocardial infarction Abnormality of the voice Trigonocephaly Celiac disease Subvalvular aortic stenosis Short attention span Enuresis Villous atrophy Hallux valgus Speech apraxia Hyperextensibility of the finger joints Incoordination Smooth philtrum Hypermetropia Malabsorption Cutis laxa Open bite Obsessive-compulsive behavior Chronic otitis media Redundant skin Puberty and gonadal disorders Micropenis Arnold-Chiari type I malformation Babinski sign Hypoplasia of the zygomatic bone Posteriorly rotated ears Hypothyroidism Cerebral visual impairment Sensorineural hearing impairment Abnormal location of ears Anxiety Joint laxity Telecanthus Intellectual disability, moderate Open mouth Postnatal growth retardation Joint stiffness Wide mouth Craniosynostosis Hemiparesis Small for gestational age Full cheeks Sleep disturbance Depressed nasal bridge Radioulnar synostosis Thick lower lip vermilion Mitral regurgitation Decreased body weight Amblyopia Cafe-au-lait spot Aortic valve stenosis Hernia Abnormal dermatoglyphics Malar flattening Arnold-Chiari malformation Long philtrum Pleural effusion Tetralogy of Fallot Melanocytic nevus Pulmonary artery stenosis Premature skin wrinkling Abnormality of the testis Congestive heart failure Hydrocephalus Ventriculomegaly Abnormal mitral valve morphology Thickened helices Abnormality of the pulmonary artery Dysmetria Autistic behavior Mitral valve prolapse Webbed neck Increased nuchal translucency Polyhydramnios Hepatomegaly Downslanted palpebral fissures Talipes equinovarus Genu valgum Hyperlordosis Thrombocytopenia Abnormal cardiac septum morphology Scarring Patent ductus arteriosus Hypogonadism Proptosis Abnormality of the kidney Abnormal bleeding Osteopenia Adducted thumb Macrotia Absent speech Pectus carinatum Broad forehead Cerebral cortical atrophy Joint hypermobility Bruising susceptibility Encephalopathy Depressivity High, narrow palate Midface retrusion Apraxia Intrauterine growth retardation Abnormality of the clavicle Underdeveloped nasal alae Abnormality of the skeletal system Palmoplantar keratoderma Anteverted nares Paraplegia Edema Nephrolithiasis Finger clinodactyly Recurrent urinary tract infections Toe syndactyly Hypotrichosis Abnormality of the cerebral white matter Spastic paraplegia Abnormality of extrapyramidal motor function Cleft palate Hypotelorism Blepharophimosis Abnormality of dental enamel Dyslexia Hemiplegia/hemiparesis Brittle hair Abnormality of vision Muscle weakness Progressive spasticity Spastic paraparesis Fine hair High hypermetropia Paraparesis Abnormality of the nail Abnormal form of the vertebral bodies Short palpebral fissure Hyperactive deep tendon reflexes Chorea Carious teeth Hip dislocation Abnormality of the nervous system Conductive hearing impairment Motor delay Upslanted palpebral fissure Arrhythmia Deeply set eye Flexion contracture Hypertension Neoplasm Glaucoma Renal insufficiency Optic nerve dysplasia Mandibular prognathia Pain Broad columella Blindness Slow-growing hair Syndactyly Abnormality of the eye Arthritis Obesity Decreased fertility Hypodontia Supernumerary nipple Macroglossia Personality changes Sudden cardiac death Myopathy Respiratory distress Oral aversion Elevated serum creatine phosphokinase Tremor Osteoporosis Cerebellar hypoplasia Arthralgia Cleft lip Protruding ear Proteinuria Eyelid fasciculation Paralysis Attention deficit hyperactivity disorder Stroke Pes planus Corneal opacity Postural instability Abdominal pain Nausea and vomiting Abnormal electroretinogram Gynecomastia Diabetes mellitus Oral cleft Developmental regression Everted lower lip vermilion Recurrent respiratory infections Multiple plantar creases Cutaneous T-cell lymphoma Abnormality of the hypothalamus-pituitary axis Dystrophic fingernails Generalized-onset seizure Abnormality of the ulna Abnormality of the gastrointestinal tract Woolly hair Thick upper lip vermilion Abnormal hair pattern Abnormality of the optic nerve Enlarged kidney Epileptic encephalopathy Progressive cerebellar ataxia Tapered finger Delayed CNS myelination Abnormal myocardium morphology Deep palmar crease Absent eyelashes Diplopia Gait ataxia Biparietal narrowing Infantile spasms Abnormality of the sternum Cerebellar vermis atrophy Long palpebral fissure Abnormal heart valve morphology Multiple cafe-au-lait spots Generalized hyperpigmentation Abnormal eyelash morphology Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Alopecia of scalp Gastrointestinal dysmotility Abnormal aortic valve morphology Multiple palmar creases Chest pain Muscle stiffness Lumbar hyperlordosis Pes cavus Abnormality of the hairline Agenesis of corpus callosum Morphological abnormality of the gastrointestinal tract Inappropriate crying Aphasia Premature adrenarche Central sleep apnea Perseveration Abnormality of the auditory canal Delayed cranial suture closure Large fontanelles Tongue thrusting Functional abnormality of the gastrointestinal tract Severe hydrocephalus Frontal balding Excessive wrinkled skin Abnormality of hair texture Cavernous hemangioma Sparse or absent eyelashes Hand clenching Endocarditis Anterior creases of earlobe Laryngeal cleft Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Hypoplasia of the frontal lobes Generalized ichthyosis Aqueductal stenosis Shuffling gait Abnormality of retinal pigmentation Increased body weight Esotropia Pelvic kidney Right ventricular hypertrophy Obsessive-compulsive trait Nocturia Chronic constipation Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Neurodevelopmental delay Retinal arteriolar tortuosity Hyperacusis Blue irides Vocal cord paralysis Multiple renal cysts Tubulointerstitial nephritis Food intolerance Patellar dislocation Abnormality of the vasculature Infantile hypercalcemia Abnormality of the gastric mucosa Poor coordination Soft skin Nevus flammeus Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Insomnia Restlessness Facial cleft Aortic arch aneurysm Large earlobe Vertebral segmentation defect Parathyroid hyperplasia Lacrimation abnormality Abnormal renal morphology Peripheral pulmonary artery stenosis Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Rectal prolapse Decreased plasma carnitine Arterial stenosis Dysgraphia Periorbital fullness Abnormality of nervous system morphology Phonophobia Urethral stenosis Overriding aorta Abnormal glucose tolerance Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Gait imbalance Cerebral ischemia Colonic diverticula Vascular tortuosity Abnormality of the ankles Abnormality of the cerebral vasculature Tubulointerstitial abnormality Abnormality of the neck Prematurely aged appearance Renovascular hypertension Renal agenesis Progressive hearing impairment Dyssynergia Schizophrenia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Infantile muscular hypotonia Ischemic stroke Vocal cord dysfunction Sacral dimple Bicuspid aortic valve Atrophy/Degeneration involving the corticospinal tracts Widely spaced teeth Dementia Spina bifida occulta Overfriendliness Hemivertebrae Pointed chin Increased bone mineral density Narrow face Hoarse voice Gingival overgrowth Involuntary movements Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Brachycephaly Hypsarrhythmia Dehydration Early onset of sexual maturation Reduced bone mineral density Abnormal social behavior Cholelithiasis Premature graying of hair Flat cornea Supravalvular aortic stenosis Loss of consciousness Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Nephritis Portal hypertension Precocious puberty Hypercalcemia Hypercalciuria Nystagmus-induced head nodding Dysphonia Polycystic ovaries Impaired visuospatial constructive cognition Abnormality of pelvic girdle bone morphology Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Neurofibromas Abnormality of the lymphatic system Aplasia/Hypoplasia of the eyebrow Madelung deformity Hypospadias Dilatation Headache Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Broad alveolar ridges Thin upper lip vermilion Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Hyperactivity Short philtrum Retinal dysplasia Impulsivity Spinal dysraphism Stiff neck Tethered cord Enlarged joints 11 pairs of ribs Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Short clavicles Proportionate short stature High pitched voice Preauricular pit Clubbing Prominent nasal bridge Language impairment Nasal speech Abnormality of the hand Generalized hirsutism Short thumb Long eyelashes Broad thumb Prominent nose Hypoplasia of the maxilla Downturned corners of mouth Hirsutism Thin vermilion border Poor speech Mild global developmental delay Low hanging columella Expressive language delay Opisthotonus Visual loss Microphthalmia Podagra Bladder stones Excessive purine production Hyperuricosuria Facial grimacing Testicular atrophy Focal dystonia Megaloblastic anemia Gout Self-mutilation Hyperuricemia Athetosis Hypoglycemia Proximal placement of thumb Oral-pharyngeal dysphagia Self-injurious behavior Cerebral palsy Spastic gait Stereotypy Clumsiness Choreoathetosis Nephropathy Hematuria Rigidity Dystonia Anemia Polydactyly Camptodactyly Fragile nails Aplasia/Hypoplasia of the cerebellum Taurodontia Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Premature loss of teeth Basal ganglia calcification Metaphyseal dysplasia Narrow nasal bridge Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Hand polydactyly Abnormality of the pinna Preaxial polydactyly Reduced number of teeth Spastic tetraparesis Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Tetraparesis Cerebral calcification Overgrowth Microcornea Flat face Cleft upper lip Paresthesia Finger syndactyly Short upper lip Varicocele Hydroureter Respiratory tract infection Retinal dystrophy Falls Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Astigmatism Dolichocephaly Nail dystrophy Pruritus Leukemia Erythema EEG abnormality Abdominal distention Hyperkeratosis Hyperhidrosis Prominent forehead Alopecia Cerebral atrophy Splenomegaly Intellectual disability, severe Cardiomyopathy Frontal bossing Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Hepatic steatosis Nevus Abnormal anterior segment morphology Delayed gross motor development Malnutrition Large for gestational age Absent eyebrow Heart murmur Ectropion Scaling skin Sparse eyebrow Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Optic nerve hypoplasia Abnormality of the genitourinary system Intestinal malrotation Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Hyperpigmentation of the skin Thickened skin Inflammatory abnormality of the skin Progressive visual loss Growth hormone deficiency Premature birth Abnormal lymphatic vessel morphology Abnormal nipple morphology Persistent left superior vena cava Scapular winging Acute lymphoblastic leukemia Aortic root aneurysm Thoracic scoliosis Male infertility Abnormality of digit Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Abnormality of the thorax Abnormality of the urinary system Coarse hair Abnormality of the genital system Thickened nuchal skin fold Wide intermamillary distance Delayed puberty Hepatosplenomegaly Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Abnormality of the mouth Acute leukemia Morphological abnormality of the inner ear Unilateral ptosis Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Reduced factor XII activity Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Intestinal lymphangiectasia High anterior hairline Abnormality of the mandible Prolonged QRS complex Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of the helix Dilated fourth ventricle


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