Dysarthria, and Joint laxity

Diseases related with Dysarthria and Joint laxity

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

Top matches:

ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

High match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Other less relevant matches:

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

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 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

High 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match HYPERTRYPTOPHANEMIA

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Top 5 symptoms//phenotypes associated to Dysarthria and Joint laxity

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability 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 Joint laxity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Growth delay Inguinal hernia Seizures Cryptorchidism Micrognathia Abnormal facial shape Abnormal heart morphology Microcephaly Muscular hypotonia Failure to thrive Delayed skeletal maturation Behavioral abnormality Hernia Umbilical hernia Feeding difficulties in infancy Joint hyperflexibility Intellectual disability, moderate Cutis laxa Long philtrum Pes cavus Dysmetria Abnormality of the dentition Atrial septal defect Epicanthus Abnormality of the fingernails Depressed nasal bridge Flexion contracture Sparse hair Neoplasm Cerebellar atrophy Hypertelorism Motor delay Spasticity Low-set ears Intrauterine growth retardation Pointed chin Hoarse voice Hypertonia Gait ataxia Hypertension High palate Scoliosis Pectus excavatum Cognitive impairment Intellectual disability, mild Failure to thrive in infancy Short nose Apraxia Wide mouth Large earlobe Abnormal cardiac septum morphology Ataxia Downslanted palpebral fissures Hearing impairment Feeding difficulties Sensorineural hearing impairment Visual impairment Thin upper lip vermilion Gait disturbance Kyphoscoliosis Gastroesophageal reflux Macrocephaly Myopia Neonatal hypotonia Unsteady gait Absent speech Malabsorption Constipation Full cheeks Smooth philtrum Osteoporosis

Rare Symptoms - Less than 30% cases

Lymphedema Ventricular septal defect Ptosis Large for gestational age Pain Recurrent otitis media Broad thumb Depressivity Overgrowth Chronic constipation Clinodactyly Myopathy Renal insufficiency Broad forehead Cerebral cortical atrophy Macrotia Mandibular prognathia Talipes equinovarus Hyperhidrosis Kyphosis Limited elbow extension Brachydactyly Arthralgia Abnormality of the voice Postnatal growth retardation Joint stiffness Craniosynostosis Camptodactyly of finger Neurological speech impairment Small for gestational age Hypermetropia Poor speech Nephrocalcinosis Anxiety Triangular face Broad nasal tip Dental malocclusion Otitis media Microdontia Hypoplasia of penis Coarctation of aorta Interphalangeal joint contracture of finger Aggressive behavior Deeply set eye Pes planus Hyperreflexia Down-sloping shoulders Broad philtrum Thin nail Hyperextensibility of the finger joints Deep-set nails Villous atrophy Enuresis Adducted thumb Osteopenia Hypothyroidism Wide nasal bridge Abnormality of the skeletal system Short neck Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Posteriorly rotated ears Upslanted palpebral fissure Celiac disease Abnormal carotid artery morphology Long eyelashes Coarse facial features Slow saccadic eye movements Arnold-Chiari type I malformation Postural instability Hyperextensible skin Sepsis Syringomyelia Macroglossia Mask-like facies Gaze-evoked nystagmus Redundant skin Oculomotor apraxia Broad-based gait Mitral valve prolapse Hypopigmentation of the skin Thick lower lip vermilion Fine hair Hypoplastic toenails Nystagmus Tremor Sleep disturbance Arnold-Chiari malformation Nausea and vomiting Developmental regression Arterial stenosis Abnormal dermatoglyphics Dilatation Hypertrophic cardiomyopathy Bladder diverticulum Low-set, posteriorly rotated ears Chorea Irritability Hypoglycemia Woolly hair Pulmonic stenosis Abnormality of dental enamel Thick vermilion border Wide nose Soft skin Infantile muscular hypotonia Cerebral atrophy Areflexia Abnormality of lipid metabolism Dehydration Melena Triangular mouth Hematemesis Papilloma Renal agenesis Tetralogy of Fallot Bronchomalacia Fetal distress Limited elbow movement Capillary malformation Deep plantar creases Esotropia Large face Concave nail Abnormality of earlobe Deep palmar crease Large forehead Verrucae Central apnea Lack of skin elasticity Myocardial infarction Abnormality of the testis Small nail Redundant neck skin Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Labial hypoplasia Hypsarrhythmia Schwannoma Cardiomegaly Asymmetric septal hypertrophy Abnormal mitral valve morphology Fasting hypoglycemia Hypoplasia of teeth Vesicoureteral reflux Pneumothorax Abnormality of extrapyramidal motor function Rhabdomyosarcoma Broad femoral neck Hypotelorism Narrow forehead Abnormality of the cardiovascular system Bladder neoplasm Carious teeth Chest pain Obesity Frontal hirsutism Recurrent respiratory infections Cerebellar hypoplasia Vestibular Schwannoma Elevated serum creatine phosphokinase Embryonal rhabdomyosarcoma Patent ductus arteriosus Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Midface retrusion Abdominal pain Macrocephaly at birth Malar flattening Enlarged cerebellum Myofiber disarray Congestive heart failure Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Increased corneal curvature Cataract Diabetes mellitus Glaucoma Abnormal pulmonary valve morphology Blepharophimosis Sudden cardiac death Hypodontia Everted lower lip vermilion Oral cleft Genu valgum Cleft palate Corneal opacity Duodenal ulcer Stroke Attention deficit hyperactivity disorder Ulnar deviation of the wrist Scarring Body odor Paralysis Ganglioneuroblastoma Autistic behavior Protruding ear Hyperlordosis Postprandial hyperglycemia Abnormality of the kidney Cleft lip Proteinuria Shyness Hypopnea High forehead Concentric hypertrophic cardiomyopathy Autism Transitional cell carcinoma of the bladder Micropenis Respiratory distress Polycystic ovaries Hemiparesis Infantile hypercalcemia Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Abnormality of the gastric mucosa Synostosis of joints Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Abnormality of the bladder Nocturia Paroxysmal bursts of laughter Abnormal endocardium morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Aplasia/Hypoplasia of the iris Obsessive-compulsive trait Renal duplication Colonic diverticula Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Myxomatous mitral valve degeneration Abnormality of the diencephalon Dysgraphia Skin rash Sensory impairment Decreased nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Demyelinating peripheral neuropathy Fever High myopia Abnormality of the foot Emotional lability Overweight Generalized joint laxity Mood swings Stuttering Hypersexuality Tryptophanuria Distal sensory impairment Peripheral neuropathy Medial flaring of the eyebrow Stellate iris Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Functional abnormality of male internal genitalia Hyperplasia of the maxilla Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Narrow mouth Flat face Inability to walk Sandal gap Abnormality of nervous system morphology Rectal prolapse Open mouth Hypercalcemia Reduced bone mineral density Abnormality of pelvic girdle bone morphology Incoordination Thick upper lip vermilion Dysphonia Hypercalciuria Cholelithiasis Radioulnar synostosis Ischemic stroke Precocious puberty Portal hypertension Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Schizophrenia Sacral dimple Glucose intolerance Aortic valve stenosis Mitral regurgitation Abnormal form of the vertebral bodies Involuntary movements Recurrent urinary tract infections Nephrolithiasis Amblyopia Gingival overgrowth Narrow face Bicuspid aortic valve Increased bone mineral density Increased body weight Hypogonadotrophic hypogonadism Hemivertebrae Spina bifida occulta Progressive hearing impairment Widely spaced teeth Tracheoesophageal fistula Polyuria Periorbital edema Gait imbalance Right ventricular hypertrophy Tubulointerstitial nephritis Abnormality of the neck Abnormality of the cerebral vasculature Dyslexia Cerebral ischemia Abnormality of refraction Periorbital fullness Blue irides Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Cystic renal dysplasia Peptic ulcer Hypoplasia of the zygomatic bone Vocal cord paralysis Loss of consciousness Restlessness Open bite Hallux valgus Premature graying of hair Vertebral segmentation defect High hypermetropia Prematurely aged appearance Facial cleft Insomnia Multiple renal cysts Megalocornea Posterior embryotoxon Nevus flammeus Poor coordination Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Achilles tendon contracture Hypogonadism Progeroid facial appearance Prominent forehead Joint contracture of the hand Tall stature Pachygyria Hypertrichosis Amenorrhea Nail dysplasia Lymphoma Round face Talipes Platyspondyly Leukemia Abnormality of the pinna Camptodactyly Retrognathia Therapeutic abortion Coxa valga Metaphyseal spurs Hypocupremia Multiple joint dislocation Spontaneous hematomas Venous insufficiency Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Hypothermia Atypical scarring of skin Exostoses Hypopigmentation of hair Prolonged neonatal jaundice Short ribs Accelerated skeletal maturation Prominent occiput Dilation of lateral ventricles Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Teratoma Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad face Slurred speech Bilateral talipes equinovarus Back pain Large hands Radial deviation of finger Flat occiput Metatarsus adductus Overlapping toe Absent septum pellucidum Hydrocele testis Secondary amenorrhea Inverted nipples Acute lymphoblastic leukemia Prolactin excess Diastasis recti Hypoplastic iliac wing Tarsal synostosis Opisthotonus Flared humeral metaphysis Abnormality of ocular smooth pursuit Very long chain fatty acid accumulation Bronchiolitis Difficulty running Decreased liver function Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Retinal dystrophy Falls Rod-cone dystrophy Pneumonia Hyporeflexia Enlarged interhemispheric fissure Small posterior fossa Vertical nystagmus Muscle weakness Hypergonadotropic hypogonadism Dystonia Myoclonus Cerebellar vermis hypoplasia Intention tremor Frequent falls Sensorimotor neuropathy Reduced tendon reflexes Dysmetric saccades Drooling Dysdiadochokinesis Hyperactive deep tendon reflexes Absent Achilles reflex Orofacial dyskinesia Dilated fourth ventricle Elevated levels of phytanic acid Fatigue Osteomyelitis Abnormality of the metaphysis Myopathic facies Cerebral hemorrhage Metaphyseal widening Intracranial hemorrhage Coarse hair Abnormal palate morphology Shock Spastic tetraparesis Joint dislocation Wormian bones Thickened skin Chronic diarrhea Abnormality of the face Bowing of the long bones Choreoathetosis Intellectual disability, severe Dry skin Diarrhea Dementia Brachycephaly Jaundice Severe global developmental delay Narrow chest Neurodegeneration Sparse scalp hair Recurrent fractures Gastrointestinal hemorrhage Generalized-onset seizure Intellectual disability, profound Tetraparesis Progressive neurologic deterioration Abnormally low-pitched voice Dysharmonic bone age Barrel-shaped chest Ascites Wide anterior fontanel Hyperpigmentation of the skin Decreased body weight Hypoplasia of dental enamel Atrial fibrillation Epidermal acanthosis Eczema Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Nevus Tetraplegia High, narrow palate Cafe-au-lait spot Abnormality of the nervous system Severe short stature Respiratory failure Hyperkeratosis Proptosis Polyhydramnios Carcinoma Apnea Hematuria Pectus carinatum Arthrogryposis multiplex congenita Delayed puberty Astigmatism Joint hypermobility Tachycardia Hydrops fetalis Abnormality of the hair Edema Keratoconus Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Neonatal hypoglycemia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Reduced subcutaneous adipose tissue Narrow palate Pyloric stenosis Short chin Acanthosis nigricans Hemangioma Relative macrocephaly Laryngomalacia Poor suck Aortic aneurysm Neurodevelopmental delay Pleural effusion Heart murmur Hyperglycemia Bilateral cryptorchidism Tricuspid regurgitation Rocker bottom foot Arrhythmia Cardiomyopathy Vomiting Prominent nose High pitched voice Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Nasal speech Abnormality of the hand Finger clinodactyly Generalized hirsutism Short thumb Short palpebral fissure Low posterior hairline Underdeveloped nasal alae Hypoplasia of the maxilla Short clavicles Arthritis Headache Hypospadias Babinski sign Hyperactivity Conductive hearing impairment Hydronephrosis Telecanthus Small hand Short philtrum Prominent nasal bridge Thin vermilion border Bulbous nose Hirsutism Downturned corners of mouth Proportionate short stature Sprengel anomaly Hydrocephalus Congenital pseudoarthrosis of the clavicle Respiratory insufficiency Anteverted nares Ventriculomegaly Dysphagia Frontal bossing Hepatomegaly Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Pseudoarthrosis Lipoma Speech apraxia Cone-shaped epiphyses of the phalanges of the hand Short columella Abnormality of the clavicle Short attention span 11 pairs of ribs Enlarged joints Broad columella Persistent left superior vena cava Tethered cord Stiff neck Spinal dysraphism Short upper lip Expressive language delay Varicocele Head-banging


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