Dysarthria, and Microdontia

Diseases related with Dysarthria and Microdontia

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

Top matches:

Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

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 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

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE IV

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Low match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Microdontia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Neurological speech impairment Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macrotia Hypotrichosis Seizures Sparse hair Hearing impairment Microcephaly Strabismus Hypodontia Carious teeth Brachydactyly Recurrent respiratory infections Abnormality of dental enamel Global developmental delay Dental malocclusion Short stature Gait disturbance Cleft palate Midface retrusion Malar flattening Underdeveloped nasal alae Abnormal heart morphology Sparse scalp hair Delayed speech and language development Clinodactyly Hyperreflexia Ataxia Delayed skeletal maturation Abnormality of the skeletal system Hyperlordosis Protruding ear Smooth philtrum Deeply set eye Depressed nasal bridge Umbilical hernia Glaucoma Clinodactyly of the 5th finger Alopecia Hypogonadism Anodontia Finger syndactyly Syndactyly Short nose Coarse facial features Atrial septal defect Cleft lip Myopia Corneal opacity Feeding difficulties Cleft upper lip Toe syndactyly Joint laxity Generalized hypotonia Abnormal facial shape Hypertension Intrauterine growth retardation Abnormality of the ear Inguinal hernia Constipation Brittle hair Feeding difficulties in infancy Nephrocalcinosis Abnormality of the fingernails Wide mouth Craniosynostosis Small for gestational age Joint hyperflexibility Triangular face Otitis media Recurrent otitis media Cognitive impairment Oral cleft Posteriorly rotated ears Prominent forehead Sparse and thin eyebrow Cataract Delayed eruption of teeth Sparse eyelashes Ectodermal dysplasia Everted lower lip vermilion EEG abnormality Thin upper lip vermilion Hypohidrosis Nystagmus Downslanted palpebral fissures Abnormality of dental morphology Hypertelorism Sparse lateral eyebrow

Rare Symptoms - Less than 30% cases

Thick vermilion border Bilateral single transverse palmar creases Joint stiffness Malabsorption Wide intermamillary distance Nail dysplasia Hypermetropia Telecanthus Downturned corners of mouth Intellectual disability, moderate Kyphoscoliosis Scrotal hypoplasia Abnormality of the ureter Growth delay Bilateral cleft lip and palate Cryptorchidism Low-set ears Prominent supraorbital ridges Dystrophic toenail Dystrophic fingernails Intellectual disability, mild Anxiety Pili torti Short chin Cutaneous finger syndactyly Aplasia/Hypoplasia of the eyebrow Hypothyroidism Gastroesophageal reflux Highly arched eyebrow Palmoplantar hyperkeratosis Hypoplasia of the maxilla Hyperhidrosis Broad nasal tip Cutaneous syndactyly of toes Arnold-Chiari malformation Abnormal dermatoglyphics Increased body weight Hoarse voice Hernia Depressivity Frontal bossing Behavioral abnormality Diabetes mellitus Abnormality of the philtrum Abnormality of the kidney Anhidrosis Abnormal cardiac septum morphology Progressive hypotrichosis Taurodontia Dysphonia Respiratory distress Synophrys Enuresis Thin skin Hypoplasia of penis Coarctation of aorta Abnormality of the voice Trigonocephaly Hypoplasia of the zygomatic bone Celiac disease Villous atrophy Macrocephaly Failure to thrive Sensorineural hearing impairment Muscular hypotonia Soft skin Posterior embryotoxon Megalocornea Glucose intolerance Broad columella Absent speech Abnormality of the clavicle Long philtrum Stroke Slow-growing hair High hypermetropia Ventricular septal defect Infantile muscular hypotonia Palmoplantar keratoderma Microcornea Fine hair Scoliosis Pain Hypotelorism Short palpebral fissure Hip dislocation Bulbous nose Spasticity Ptosis Visual impairment Osteopenia Paraplegia Abnormal form of the vertebral bodies Arthralgia Spastic paraplegia Epicanthus Pes planus Concave nail Low-set, posteriorly rotated ears Camptodactyly of finger Pseudohypoparathyroidism Blepharophimosis Upslanted palpebral fissure Abnormality of cardiovascular system morphology Conductive hearing impairment High forehead Mandibular prognathia Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Phonophobia Abnormality of nervous system morphology Abnormal social behavior Renovascular hypertension Parathyroid hyperplasia Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Pelvic kidney Hyperacusis Urethral stenosis Renal artery stenosis Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Nocturia Synostosis of joints Abnormality of the bladder Colonic diverticula Renal duplication Obsessive-compulsive trait Aplasia/Hypoplasia of the iris Coronary artery stenosis Abnormal endocardium morphology Retinal arteriolar tortuosity Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Vascular tortuosity Rectal prolapse Dysgraphia Open bite Nevus flammeus Arnold-Chiari type I malformation Pear-shaped nose Abnormality of lipid metabolism Cone-shaped epiphyses of the middle phalanges of the hand Insomnia Restlessness Facial cleft Prematurely aged appearance Vertebral segmentation defect Premature graying of hair Hallux valgus Loss of consciousness Poor coordination Polyuria Abnormally low-pitched voice Tracheoesophageal fistula Hypoplastic toenails Coxa magna Unilateral renal agenesis Obsessive-compulsive behavior Chronic otitis media Nephritis Portal hypertension Precocious puberty Radioulnar synostosis Failure to thrive in infancy Thin nail Pulmonary artery stenosis Arterial stenosis Abnormality of refraction Abnormal carotid artery morphology Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Gait imbalance Cerebral ischemia Abnormality of the vasculature Dyslexia Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Flat capital femoral epiphysis Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Paroxysmal bursts of laughter Atrophy/Degeneration involving the corticospinal tracts Abnormality of the diencephalon Hypohidrotic ectodermal dysplasia Abnormality of the skin Short palm Joint hypermobility Weight loss Severe short stature Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Anhidrotic ectodermal dysplasia Abnormality of the face Absent nipple Anterior hypopituitarism Conical tooth Heat intolerance Absent eyelashes Rhinitis Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Absent eyebrow Type I diabetes mellitus Bilateral sensorineural hearing impairment Decreased body weight Eczema Increased intraocular pressure Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Premature skin wrinkling Hypoplasia of the iris Insulin resistance Insulin-resistant diabetes mellitus Poor appetite Abnormality of the immune system Lipoatrophy Reduced subcutaneous adipose tissue Congenital glaucoma Hyperglycemia Radial deviation of finger Lipodystrophy Opacification of the corneal stroma Congenital hip dislocation Depressed nasal ridge Short distal phalanx of finger Medial flaring of the eyebrow Leukonychia Biparietal narrowing Abnormal electroretinogram Abnormality of retinal pigmentation Retinopathy Thin eyebrow Photophobia Small pituitary gland Sagittal craniosynostosis Broad philtrum Wide nose Thick eyebrow Redundant skin Developmental stagnation Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Genu recurvatum Aplasia/Hypoplasia of the abdominal wall musculature Dry skin Narrow palate Respiratory tract infection Immunodeficiency Intellectual disability, severe Fever Anteverted ears Scaling skin Pterygium Pectus carinatum Short metacarpal Bilateral cleft lip Osteoarthritis Scapular winging Abnormal nasal morphology Short metatarsal Deep philtrum Cone-shaped epiphysis Short finger Progressive spastic paraplegia Spondylolisthesis Avascular necrosis of the capital femoral epiphysis Spastic ataxia Nail dystrophy Abnormality of ganglioside metabolism Abnormality of mucopolysaccharide metabolism Hypercalcemia Schizophrenia Cholelithiasis Dental crowding Apraxia Overgrowth Prominent nose Cerebral calcification Tetraparesis Small hand Hirsutism Thin vermilion border Poor speech Abnormality of the metaphysis Hypoplasia of dental enamel Lymphedema Low posterior hairline Prominent nasal bridge Short philtrum Abnormality of the nail Paraparesis Spastic paraparesis Postnatal growth retardation Spastic tetraparesis Abnormality of vision Reduced number of teeth Bilateral ptosis Aggressive behavior Interphalangeal joint contracture of finger Flat face Arthritis Proportionate short stature Hyperextensibility of the finger joints Speech apraxia Enlarged joints 11 pairs of ribs Abnormality of the pinna Short attention span Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Short clavicles High pitched voice Broad thumb Preauricular pit Impulsivity Clubbing Language impairment Abnormality of the cerebral white matter Nasal speech Abnormality of the hand Paresthesia Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Preaxial polydactyly Hydronephrosis Stiff neck Selective tooth agenesis Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia 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 Narrow nose Tooth abscess Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails 3-4 toe syndactyly Abnormality iris morphology Hand polydactyly Vomiting Cubitus valgus Aplasia/Hypoplasia of the cerebellum Hyperactivity Preaxial hand polydactyly Babinski sign Hyperostosis Non-midline cleft lip Hypospadias Dilatation Headache Progressive spasticity Short neck 4-5 finger syndactyly Narrow nasal bridge Metaphyseal dysplasia Basal ganglia calcification High palate Curly hair Hyperactive deep tendon reflexes Premature loss of teeth Neoplasm External ear malformation Median cleft lip Thin anteverted nares Vertebral hyperostosis Tethered cord Spinal dysraphism Hypercalciuria Abnormality of extrapyramidal motor function Mitral regurgitation Open mouth Hemiparesis Myocardial infarction Thick lower lip vermilion Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Cardiomegaly Mitral valve prolapse Recurrent urinary tract infections Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Dehydration Renal agenesis Esotropia Vesicoureteral reflux Chest pain Sudden cardiac death Full cheeks Macroglossia Involuntary movements Nephrolithiasis Postural instability Widely spaced teeth Accelerated bone age after puberty Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Chin with horizontal crease Hypoparathyroidism Ischemic stroke Sacral dimple Bicuspid aortic valve Progressive hearing impairment Amblyopia Cone-shaped epiphyses of the proximal phalanges of the hand Cutis laxa Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Swelling of proximal interphalangeal joints Increased bone mineral density Narrow face Ivory epiphyses of the distal phalanges of the hand Aortic valve stenosis Gingival overgrowth Muscle weakness Sleep disturbance Short upper lip Abnormality of the eye Renal insufficiency Kyphosis Polydactyly Congestive heart failure Hypertonia Myopathy Tremor Hypoglycemia Flexion contracture Abnormality of the nervous system Camptodactyly Mesocardia Visual loss 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 Persistent left superior vena cava Varicocele Expressive language delay Arrhythmia Obesity Dysmetria Anteverted nares Genu valgum Nausea and vomiting Pulmonic stenosis Broad forehead Attention deficit hyperactivity disorder Optic atrophy Scarring Paralysis Autistic behavior Irritability Developmental regression Hypertrophic cardiomyopathy Microphthalmia Proteinuria Edema Autism Micropenis Cerebral cortical atrophy Abdominal pain Blindness Osteoporosis Cerebellar hypoplasia Elevated serum creatine phosphokinase Patent ductus arteriosus Pectus excavatum Abnormality of the zygomatic bone


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