Dysarthria, and Craniosynostosis

Diseases related with Dysarthria and Craniosynostosis

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

Top matches:

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

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

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Other less relevant matches:

Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Low 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

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

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Top 5 symptoms//phenotypes associated to Dysarthria and Craniosynostosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% 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
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Depressed nasal bridge Neurological speech impairment Frontal bossing Spasticity Cryptorchidism Growth delay Joint hyperflexibility Macrocephaly Brachydactyly Hyperreflexia Broad nasal tip Strabismus Delayed speech and language development Cognitive impairment Abnormal facial shape Cerebral atrophy Micrognathia Short neck Umbilical hernia Intellectual disability, mild Wormian bones Inguinal hernia Delayed skeletal maturation Gastroesophageal reflux Midface retrusion Generalized hypotonia Malar flattening Muscular hypotonia Joint laxity Feeding difficulties in infancy Joint stiffness Malabsorption Ataxia Tremor Dental malocclusion Failure to thrive Cerebellar atrophy Poor speech Flexion contracture Wide nasal bridge Hearing impairment Full cheeks Intellectual disability, moderate

Rare Symptoms - Less than 30% cases

Villous atrophy Bladder diverticulum Irritability Kyphosis Abnormal carotid artery morphology Cataract Visual impairment Arterial stenosis Celiac disease Epicanthus Enuresis Apnea Depressivity Abnormality of the voice Abnormality of the fingernails Nephrocalcinosis Recurrent otitis media Apraxia Coarctation of aorta Hypoplasia of penis Microdontia Otitis media Obesity Recurrent respiratory infections Hyperlordosis Low anterior hairline Gait ataxia Dysmetria Choreoathetosis Hemiparesis Hypertonia Abnormality of extrapyramidal motor function Behavioral abnormality Dementia Hernia Pectus excavatum Osteoporosis Developmental regression Metaphyseal widening Type II diabetes mellitus Sudden cardiac death Abnormality of the face Coarse facial features Nausea and vomiting Cutis laxa Hypoplasia of the corpus callosum Hypertelorism Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of lipid metabolism Dental crowding Bowing of the long bones Abnormal form of the vertebral bodies Brachycephaly Abnormality of the metaphysis Narrow chest Mild short stature Anxiety Low-set ears Abnormality of the skeletal system Polymicrogyria Wide mouth Severe short stature Tetraparesis Constipation Gait disturbance Vomiting Abnormality of the dentition Headache Dilatation Clinodactyly of the 5th finger Abnormal heart morphology Conductive hearing impairment Atrial septal defect Cerebellar hypoplasia Hypospadias Motor delay Hypothyroidism Unilateral renal agenesis Absent speech Kyphoscoliosis Smooth philtrum Intellectual disability, severe Small for gestational age Hypertension High palate Spastic tetraparesis Cholestasis Hoarse voice Pigmentary retinopathy Status epilepticus Intention tremor Aortic valve stenosis Gingival overgrowth Amblyopia Sensorimotor neuropathy Open mouth Involuntary movements Nephrolithiasis Hypergonadotropic hypogonadism Recurrent urinary tract infections Myocardial infarction Mitral regurgitation Thick lower lip vermilion Migraine Stellate iris Narrow face Infantile muscular hypotonia Hypercalcemia Redundant skin Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Coma Schizophrenia Ischemic stroke Increased bone mineral density Sacral dimple Bicuspid aortic valve Widely spaced teeth Sensory impairment Small nail Abnormal dermatoglyphics Spina bifida occulta Abnormality of dental enamel Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Increased body weight Progressive hearing impairment Apathy Bilateral single transverse palmar creases Proteinuria Abnormal cardiac septum morphology Scarring Blepharophimosis Atrophy/Degeneration affecting the brainstem Paralysis Autistic behavior Protruding ear Iris hypopigmentation Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Hypertrophic cardiomyopathy Fat malabsorption Stroke Pes planus Arthralgia Osteopenia Macrotia High forehead Autism Micropenis Cerebral cortical atrophy Glaucoma Abdominal pain Diabetes mellitus Elevated serum creatine phosphokinase Patent ductus arteriosus Attention deficit hyperactivity disorder Broad forehead Paraparesis Dehydration Renal hypoplasia Spastic paraparesis Radioulnar synostosis Ventricular hypertrophy Agitation Hypsarrhythmia Cardiomegaly Mitral valve prolapse Hypotelorism Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Renal agenesis Corneal opacity Esotropia Vesicoureteral reflux Chest pain Macroglossia Hypodontia Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Oral cleft Genu valgum Carious teeth Pulmonic stenosis Failure to thrive in infancy Polyuria Precocious puberty Abnormality of the ankles Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Hypogonadism Photophobia Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Vascular tortuosity Pelvic kidney Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Hyperacusis Food intolerance Periorbital edema Medial flaring of the eyebrow Early onset of sexual maturation Functional abnormality of male internal genitalia Overfriendliness Descending aorta hypoplasia Nystagmus-induced head nodding Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Peripheral neuropathy Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Hepatomegaly Abnormality of the diencephalon Rod-cone dystrophy Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Optic atrophy Encephalopathy Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Rectal prolapse Mental deterioration Portal hypertension Facial cleft Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Megalocornea Insomnia Restlessness Prematurely aged appearance Vocal cord paralysis High hypermetropia Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Loss of consciousness Dyssynergia Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Obsessive-compulsive behavior Nephritis Down-sloping shoulders Blue irides Abnormality of the liver Periorbital fullness Peptic ulcer Cystic renal dysplasia Lacrimation abnormality Retinopathy Confusion Unsteady gait Abnormal renal morphology Peripheral axonal neuropathy Long philtrum Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Nausea Decreased plasma carnitine Gait imbalance Hypoplasia of the zygomatic bone Cirrhosis Distal sensory impairment Abnormality of refraction Cerebral ischemia Dyslexia Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Sensory neuropathy Tubulointerstitial nephritis Polyneuropathy Right ventricular hypertrophy Chronic constipation Renal insufficiency Hypoglycemia Short nose Stiff neck Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Spinal dysraphism Tethered cord Generalized cerebral atrophy/hypoplasia Broad columella Hyperextensibility of the finger joints Speech apraxia Enlarged joints 11 pairs of ribs Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Short clavicles Abnormal soft palate morphology Mesocardia High pitched voice Genu varum Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Abnormality of the elbow Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Limited elbow extension Mesomelia Flared metaphysis Elbow dislocation Short long bone Ventriculomegaly Disproportionate short-limb short stature Acanthosis nigricans Clonus Rhizomelia Lumbar hyperlordosis Abnormality of the ribs Limb undergrowth Short palm Micromelia Hyperhidrosis Hydrocephalus Anteverted nares Proportionate short stature Preauricular pit Narrow sacroiliac notch Abnormality of the spinal cord Deeply set eye Thin upper lip vermilion Mandibular prognathia Hyperactivity Upslanted palpebral fissure Posteriorly rotated ears Babinski sign Clinodactyly Abnormality of cardiovascular system morphology Neoplasm Short corpus callosum Gray matter heterotopias Abnormal corpus callosum morphology Arthritis Duodenal atresia Cardiorespiratory arrest Severe failure to thrive Ectopic kidney Multiple joint contractures Lissencephaly Heterotopia Pachygyria Sloping forehead Abnormal pyramidal sign EEG abnormality Agenesis of corpus callosum Hydronephrosis Aggressive behavior Impulsivity Interphalangeal joint contracture of finger Clubbing Language impairment Trigonocephaly Nasal speech Abnormality of the hand Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Broad thumb Short palpebral fissure Low posterior hairline Underdeveloped nasal alae Telecanthus Prominent nose Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Hirsutism Bulbous nose Thin vermilion border Hypermetropia Prominent nasal bridge Short philtrum Camptodactyly of finger Postnatal growth retardation Aplasia/hypoplasia of the extremities Childhood onset short-limb short stature Congestive heart failure Progressive neurologic deterioration Myopathic facies Cerebral hemorrhage Mask-like facies Intracranial hemorrhage Hyperextensible skin Coarse hair Abnormal palate morphology Shock Joint dislocation Thickened skin Chronic diarrhea Sparse scalp hair Fine hair Opisthotonus Intellectual disability, profound Generalized-onset seizure Gastrointestinal hemorrhage Chorea Sepsis Recurrent fractures Hypopigmentation of the skin Neurodegeneration Dry skin Severe global developmental delay Sparse hair Jaundice Osteomyelitis Prominent occiput Fatigue Hypocupremia Myopathy Respiratory distress Ventricular septal defect Myopia Feeding difficulties Ptosis Pain Cleft palate Sensorineural hearing impairment Scoliosis Therapeutic abortion Metaphyseal spurs Multiple joint dislocation Tarsal synostosis Spontaneous hematomas Venous insufficiency Trichorrhexis nodosa Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Hypothermia Atypical scarring of skin Exostoses Hypopigmentation of hair Prolonged neonatal jaundice Diarrhea Muscle weakness Abnormality of the ilium Thoracic kyphosis Peg-like central prominence of distal tibial metaphyses Cone-shaped capital femoral epiphysis Widened subarachnoid space Metaphyseal cupping of metacarpals Anterior rib cupping Prominent sternum Subcortical cerebral atrophy Flattened epiphysis Small epiphyses Flared iliac wings Delayed CNS myelination Spondyloepimetaphyseal dysplasia Broad foot Abnormality of movement Hypoplasia of the odontoid process Thin ribs Broad palm Short finger Short femoral neck Intellectual disability, progressive Coxa vara Optic disc pallor Delayed myelination Thick eyebrow Platyspondyly Acromelia Rigidity Dyskinesia Central apnea Oculomotor apraxia Hypomimic face Broad neck Aspiration Spastic gait Round face Paraplegia Spastic paraplegia Respiratory tract infection Areflexia Elongated superior cerebellar peduncle Molar tooth sign on MRI Large for gestational age Tall stature Parkinsonism Cerebellar vermis hypoplasia Abnormal cerebellum morphology Postaxial polydactyly Polydactyly Nystagmus Cogwheel rigidity Shuffling gait Lewy bodies Megalencephaly Resting tremor Slurred speech Bradykinesia Cerebral calcification Biliary tract abnormality


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