Dysarthria, and Camptodactyly

Diseases related with Dysarthria and Camptodactyly

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

Top matches:

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Other less relevant matches:

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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

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

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18 Is also known as spg18|intellectual disability, motor dysfunction, and joint contractures|idmdc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 18

Top 5 symptoms//phenotypes associated to Dysarthria and Camptodactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Hypertelorism High palate Delayed speech and language development Difficulty walking Scoliosis Spastic paraplegia Paraplegia Mandibular prognathia Abnormality of the pinna Microcephaly Abnormal facial shape Skeletal muscle atrophy Short stature Clinodactyly Pes cavus Strabismus Motor delay Abnormality of the skeletal system Brachydactyly Sparse hair Anteverted nares Absent speech Pectus excavatum Umbilical hernia Micrognathia Fine hair Kyphoscoliosis Abnormality of movement Prominent nasal bridge Intellectual disability, mild Hearing impairment Ankle contracture Spastic paraparesis Overgrowth Prominent nose Upslanted palpebral fissure Hypothyroidism Camptodactyly of finger Choreoathetosis Clonus Epicanthus Downslanted palpebral fissures Low-set ears Impaired vibratory sensation Talipes equinovarus Distal muscle weakness Abnormality of the foot Ataxia Ptosis Muscular hypotonia Cryptorchidism

Rare Symptoms - Less than 30% cases

Myopia Distal amyotrophy Arthrogryposis multiplex congenita Psychosis Lower limb spasticity Inability to walk Lower limb muscle weakness Spastic gait Hoarse voice Thin upper lip vermilion Slurred speech Abnormality of the hand Ankle clonus Neurological speech impairment Anxiety Language impairment Hydronephrosis Sensory neuropathy Premature loss of teeth Constipation Arachnodactyly Dysmetria Behavioral abnormality Frontal bossing Unsteady gait Growth delay Increased thyroid-stimulating hormone level Hyperactive deep tendon reflexes Aphasia Drooling Pes planus Mental deterioration Speech apraxia Conductive hearing impairment Abnormality of the fingernails Broad thumb Lymphedema Short palpebral fissure Microdontia Underdeveloped nasal alae Deeply set eye Delayed skeletal maturation Clinodactyly of the 5th finger Visual loss Abnormality of cardiovascular system morphology Poor fine motor coordination Abnormality of the dentition Atrial septal defect Joint laxity Inguinal hernia Upper limb spasticity Amenorrhea High forehead Cerebral calcification Hypotrichosis Triangular face Dental malocclusion Broad columella Flat occiput Kyphosis Abnormality of the clavicle Progressive spasticity Wide nasal bridge Neoplasm Peripheral neuropathy Feeding difficulties Hypertonia Interphalangeal joint contracture of finger Hallucinations Smooth philtrum Flexion contracture of finger Neonatal hypotonia Feeding difficulties in infancy Macrotia Delayed ability to walk Poor head control Hyporeflexia Intellectual disability, moderate Short philtrum Dystonia Protruding ear Knee flexion contracture Myopathic facies Dental crowding Joint stiffness Joint contracture of the hand Sparse eyebrow Narrow face Narrow nasal bridge Tall stature Nasal speech Cleft palate Bulbous nose Nystagmus Hyperextensibility of the finger joints Broad-based gait Severe global developmental delay Abnormality of the nervous system Preaxial polydactyly Absent Achilles reflex Hyperactive patellar reflex Cubitus valgus Hand polydactyly Aplasia/Hypoplasia of the cerebellum Preaxial hand polydactyly Hyperostosis Brittle hair Bulbar palsy Bilateral ptosis Brisk reflexes Cone-shaped epiphyses of the phalanges of the hand Non-midline cleft lip Abnormal soft palate morphology Short middle phalanx of the 5th finger Dry hair Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails Distal sensory impairment Taurodontia Generalized cerebral atrophy/hypoplasia Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Curly hair Basal ganglia calcification Metaphyseal dysplasia Mesocardia Abnormality of the ear High hypermetropia Hypoplasia of dental enamel Reduced number of teeth Microphthalmia Hip contracture Hypoglycemia Polydactyly Glaucoma Progressive spastic paraplegia Arrhythmia Febrile seizures Elbow flexion contracture Delayed gross motor development Syndactyly Blepharophimosis Short nose Toe walking Blindness Edema Ventricular septal defect Optic atrophy Visual impairment Cataract Dysharmonic bone age Abnormality of the eye Finger syndactyly Abnormality of vision Tetraparesis Spastic tetraparesis Hypoplasia of the corpus callosum Abnormality of dental enamel Paraparesis Abnormality of the nail Abnormality of the metaphysis Cough Upper motor neuron dysfunction Abnormal form of the vertebral bodies Hypotelorism Hip dislocation Abnormality of eye movement Limb hypertonia Microcornea Palmoplantar keratoderma Flat face Cleft upper lip Paresthesia Toe syndactyly Carious teeth Abnormality of the cerebral white matter Trichorrhexis nodosa Premature loss of primary teeth Broad fingertip Poor speech Enuresis Hypoplasia of the maxilla Small hand Downturned corners of mouth Hirsutism Thin vermilion border Narrow maxilla Abnormally low-pitched voice Joint hyperflexibility Flexion contracture of toe Otitis media Malabsorption Villous atrophy Hypermetropia 11 pairs of ribs Small for gestational age Enlarged joints Wrist flexion contracture Craniosynostosis Wide mouth Broad nasal tip Hypoplasia of penis Telecanthus Impulsivity Sprengel anomaly Short columella Short clavicles Proportionate short stature Short attention span Celiac disease Difficulty in tongue movements High pitched voice Preauricular pit Clubbing Coarctation of aorta Trigonocephaly Abnormality of the voice Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Recurrent otitis media Low posterior hairline Apraxia Postnatal growth retardation Pseudobulbar paralysis Curved fingers Cranial hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly 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 Glabellar reflex Madelung deformity Thin anteverted nares Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Lipoma Enlarged naris Abnormality of jaw muscles Pseudohypoparathyroidism Selective tooth agenesis Vertebral hyperostosis Hypertension Aggressive behavior Posteriorly rotated ears Tethered cord Arthritis Stiff neck Spinal dysraphism Short upper lip Expressive language delay Varicocele Gastroesophageal reflux Hyperactivity Persistent left superior vena cava Intrauterine growth retardation Abnormal heart morphology Hypospadias Pseudoarthrosis Congenital pseudoarthrosis of the clavicle Dilatation Headache Vomiting Short neck Congenital posterior urethral valve Epididymal cyst Flared humeral metaphysis Hypoplasia of the fallopian tube Limited knee extension Bowel incontinence Rotary nystagmus Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Biparietal narrowing Generalized amyotrophy Hallux valgus Abnormal conjugate eye movement Athetosis CNS hypomyelination Intellectual disability, progressive Type I diabetes mellitus Muscle stiffness Bilateral single transverse palmar creases Leukodystrophy Involuntary movements Open mouth Spastic tetraplegia Prominent antihelix Stahl ear Increased serum lactate Specific learning disability Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Cerebellar vermis atrophy Scleroderma Spastic diplegia Hammertoe Emotional lability Progressive muscle weakness Gliosis Underfolded superior helices Abnormal cerebellum morphology Sleep disturbance Short foot Joint hypermobility Genu valgum Gait ataxia Midface retrusion Cerebellar atrophy Dysphagia Failure to thrive Narrow forehead Urinary incontinence Overbite Myoclonus Generalized myoclonic seizures Postural instability Recurrent fractures High, narrow palate Facial asymmetry Synophrys Pectus carinatum Narrow mouth Brachycephaly Osteoporosis Impaired tactile sensation Webbed neck Sensory ataxia Impaired proprioception Distal arthrogryposis Long nose Sensory axonal neuropathy Sandal gap Hip dysplasia Peripheral axonal neuropathy Areflexia Respiratory insufficiency Bifid uvula Wide intermamillary distance Generalized muscle weakness Long hallux Tetraplegia Long face Irritability Proptosis Malar flattening Intellectual disability, severe Asymmetry of the ears Long palm Focal motor seizures Narrow palm Small earlobe High myopia Slender build Epileptic spasms Slender finger Long fingers Disproportionate tall stature Decreased muscle mass Spontaneous abortion Hyperpigmentation of the skin Thick lower lip vermilion Intellectual disability, profound Mood swings Abnormality of the nares Flared femoral metaphysis Accelerated skeletal maturation Limited elbow extension Bilateral talipes equinovarus Large for gestational age Overlapping toe Metatarsus adductus Radial deviation of finger Large hands Back pain Cutis laxa Coxa valga Secondary amenorrhea Pointed chin Short ribs Pachygyria Hypertrichosis Nail dysplasia Lymphoma Round face Talipes Platyspondyly Leukemia Absent septum pellucidum Inverted nipples Retrognathia Thoracolumbar kyphosis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Teratoma Thin nail Calcaneovalgus deformity Acute lymphoblastic leukemia Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Broad forehead Hyperhidrosis Abnormality of brain morphology Alopecia Myocardial infarction Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Dehydration Decreased testicular size Polyneuropathy Delayed puberty Micropenis Diabetes mellitus Hypogonadism Abnormality of metabolism/homeostasis Sparse scalp hair Diarrhea Sensorineural hearing impairment Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Primary amenorrhea Hypergonadotropic hypogonadism Prominent forehead Abnormal T-wave Hernia Long philtrum Macrocephaly Depressed nasal bridge Pain Progressive alopecia Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Abnormal spermatogenesis Decreased serum estradiol Hypogonadotrophic hypogonadism Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Parietal hypometabolism in FDG PET


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