Dysarthria, and Short palm

Diseases related with Dysarthria and Short palm

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

Top matches:

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

High 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

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

Medium match PIERPONT SYNDROME

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.

PIERPONT SYNDROME Is also known as plantar lipomatosis, unusual facies, and developmental delay|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PIERPONT SYNDROME

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium 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

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Short palm

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Deeply set eye

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Anteverted nares Strabismus Intellectual disability, severe Brachydactyly Short foot Severe short stature Cryptorchidism Smooth philtrum Delayed speech and language development Micropenis Failure to thrive Hearing impairment Nystagmus Scoliosis Cognitive impairment Wide mouth Neurological speech impairment High palate Midface retrusion Malar flattening Ventriculomegaly Tapered finger Macrocephaly Microcornea Depressed nasal bridge Muscular hypotonia Intrauterine growth retardation Hernia Cerebellar atrophy Kyphosis Hyporeflexia Macrotia Coarse facial features Feeding difficulties

Rare Symptoms - Less than 30% cases

Aggressive behavior Synophrys Telecanthus Triangular face Short metacarpal Specific learning disability Intellectual disability, moderate Sandal gap Hip dislocation Areflexia Joint laxity Widely spaced teeth Kyphoscoliosis Abnormality of the metacarpal bones Cerebral atrophy Hypertonia Thin vermilion border Spasticity Cataract Wide intermamillary distance Infantile muscular hypotonia Small for gestational age Short metatarsal Wide nose Poor speech Thick lower lip vermilion High, narrow palate Full cheeks Clinodactyly Myopia Decreased body weight Excessive wrinkled skin Micrognathia Severe global developmental delay Unilateral narrow palpebral fissure EEG abnormality Hypotrichosis Mutism Broad philtrum Prominent forehead Hypertelorism Myoclonus Upslanted palpebral fissure Brachycephaly Delayed skeletal maturation Alopecia Abnormality of finger Autism Everted lower lip vermilion Narrow palpebral fissure Joint hyperflexibility Dental malocclusion Frontal bossing Abnormality of the skeletal system Small hand Intellectual disability, progressive Obesity Inability to walk Gait ataxia Cerebellar hypoplasia Ataxia Sensorineural hearing impairment Hypoplasia of the corpus callosum Hyperreflexia Spastic paraplegia Narrow nasal bridge Falls Short distal phalanx of finger Hypermetropia Prominent nasal bridge Dysphasia Hypoplasia of the maxilla Decreased testicular size Paraplegia Interphalangeal joint contracture of finger Protruding tongue Narrow naris Large hands Lower limb hyperreflexia Progressive spastic paraplegia Camptodactyly of finger Multiple cafe-au-lait spots Restlessness Aphasia Facial hypotonia Distal lower limb amyotrophy Absent eyebrow Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Epileptic spasms Abnormal hair pattern Protruding ear Broad foot Deep plantar creases Thick nasal alae Deep palmar crease Broad face High anterior hairline Pendular nystagmus Broad palm Broad distal phalanx of finger Clubbing of toes Multiple lipomas Curly eyelashes Prominent eyelashes Flat occiput Prominent interphalangeal joints Long upper lip Large fleshy ears Echolalia Talipes equinovarus Thin upper lip vermilion Mandibular prognathia Overfolded helix Babinski sign Abnormality of the testis Pectus excavatum Enlarged joints Wide nasal ridge Broad columella Wide nasal base Eclabion Hypoplastic areola Prominent median palatal raphe Abnormal peripheral nervous system morphology Small scrotum Cone-shaped epiphysis Small forehead Low frustration tolerance Hyperglycemia Lipoatrophy Reduced subcutaneous adipose tissue Osteoporosis Postnatal growth retardation Congenital glaucoma Autistic behavior Glucose intolerance Radial deviation of finger Poor appetite Sparse hair Blepharophimosis Thick eyebrow Prominent supraorbital ridges Highly arched eyebrow Opacification of the corneal stroma Broad nasal tip Abnormality of the immune system Megalocornea Short chin Birth length less than 3rd percentile Abnormality of the mandible Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Rieger anomaly Enlarged epiphyses Hypoplastic facial bones Abnormality of cardiovascular system morphology Abnormality of the zygomatic bone Hypoplasia of the iris Growth delay Downslanted palpebral fissures Long philtrum Posterior embryotoxon Insulin-resistant diabetes mellitus Abnormality of dental enamel Eczema Abnormal anterior chamber morphology Accelerated skeletal maturation Joint hypermobility Absence seizures Corneal opacity Weight loss Glaucoma Joint dislocation Diabetes mellitus Drooling Downturned corners of mouth Inguinal hernia Abnormal heart morphology Depressivity Abnormality of the dentition Wide nasal bridge Low-set ears Talipes calcaneovarus Low anterior hairline Abnormality of epiphysis morphology Status epilepticus Abnormality of the face Nephrocalcinosis Short palpebral fissure Congenital hip dislocation Sparse scalp hair Increased body weight Insulin resistance Broad-based gait Thin skin Short phalanx of finger Bilateral sensorineural hearing impairment Microdontia Abnormality of the skin Underdeveloped nasal alae Long eyelashes Hypodontia Delayed eruption of teeth Lipodystrophy Spastic tetraparesis Muscular hypotonia of the trunk Abnormality of the elbow Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Obstructive sleep apnea Acromelia Spinal canal stenosis Disproportionate short stature Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Elbow dislocation Abnormality of the ilium Muscle weakness Genu varum Cerebral cortical atrophy Progressive cerebellar ataxia Dyskinesia Congenital cataract Muscular dystrophy Pectus carinatum Rigidity Pes planus Hypogonadism Ptosis Elevated serum creatine phosphokinase Recurrent infections Myopathy Optic atrophy Skeletal muscle atrophy Peripheral neuropathy Epicanthus Flexion contracture Abnormality of pelvic girdle bone morphology Short long bone Hip dysplasia Lissencephaly Atrophy of the dentate nucleus Abnormality of the neck Thoracic kyphosis Thoracic scoliosis Cortical dysplasia Global brain atrophy Dysdiadochokinesis Truncal ataxia Hydrocephalus Heterotopia Intention tremor Brain atrophy Hirsutism Dysmetria Abnormal pyramidal sign Tremor Aplasia of the inferior half of the cerebellar vermis Hyperhidrosis Disproportionate short-limb short stature Abnormality of the metaphysis Acanthosis nigricans Wormian bones Clonus Rhizomelia Dental crowding Bowing of the long bones Abnormal form of the vertebral bodies Lumbar hyperlordosis Conductive hearing impairment Abnormality of the ribs Limb undergrowth Sudden cardiac death Micromelia Narrow chest Joint stiffness Hyperlordosis Apnea Decreased antibody level in blood Hypertrichosis High forehead Progressive microcephaly Mood swings Developmental stagnation Bruxism Hyperventilation Poor eye contact Infantile spasms Loss of consciousness Cerebral visual impairment Multifocal seizures Stereotypy Postnatal microcephaly Tetraparesis Hypsarrhythmia Intellectual disability, profound Apraxia Sloping forehead Infantile encephalopathy Thoracolumbar kyphoscoliosis Focal-onset seizure Atonic seizures Posteriorly rotated ears Microphthalmia Short nose Short neck Broad jaw Subglottic stenosis Hydrocele testis CNS hypomyelination EEG with generalized slow activity Bicuspid aortic valve Horizontal nystagmus Aortic valve stenosis Broad thumb Macroglossia Bulbous nose Abnormality of the cerebral white matter Umbilical hernia Epileptic encephalopathy Delayed myelination Progressive muscle weakness Cubitus valgus Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Myopathic facies Congenital muscular dystrophy Dysphonia Muscle fiber necrosis Type I diabetes mellitus Coxa valga Muscle stiffness Hypergonadotropic hypogonadism Sensorimotor neuropathy Short thumb Limb ataxia Autophagic vacuoles Muscle flaccidity Generalized myoclonic seizures Encephalopathy Sleep disturbance Thick vermilion border Broad forehead Developmental regression Gastroesophageal reflux Respiratory failure Constipation Intellectual disability, mild Abnormality of the cerebellar vermis Blindness Polymicrogyria Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Prominent proximal interphalangeal joints


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Lymphedema, related diseases and genetic alterations