Dysarthria, and Ectodermal dysplasia
Diseases related with Dysarthria and Ectodermal dysplasia
In the following list you will find some of the most common rare diseases related to Dysarthria and Ectodermal dysplasia that can help you solving undiagnosed cases.
Top matches:
Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54
Low match ZLOTOGORA-OGUR SYNDROME
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 SYNDROMELow match ROSSELLI-GULIENETTI SYNDROME
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Micrognathia
- Cleft palate
More info about ROSSELLI-GULIENETTI SYNDROME
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Other less relevant matches:
Low match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
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 DYSPLASIALow match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES
Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
SOURCES: ORPHANET OMIM MENDELIAN
More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUESLow match 2Q32Q33 MICRODELETION SYNDROME
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about 2Q32Q33 MICRODELETION SYNDROMELow match ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss|edss1
Related symptoms:
- Cognitive impairment
- Syndactyly
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROMELow match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS
Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq
Related symptoms:
- Growth delay
- Hyperhidrosis
- Hyperkeratosis
- Weight loss
- Erythema
SOURCES: OMIM ORPHANET MENDELIAN
More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSISLow match UNVERRICHT-LUNDBORG DISEASE
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.
UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1
Related symptoms:
- Intellectual disability
- Seizures
- Ataxia
- Cognitive impairment
- Dysarthria
SOURCES: ORPHANET OMIM MENDELIAN
More info about UNVERRICHT-LUNDBORG DISEASELow match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6
A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6
Related symptoms:
- Seizures
- Scoliosis
- Ataxia
- Peripheral neuropathy
- Dysarthria
SOURCES: OMIM ORPHANET MENDELIAN
More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6Top 5 symptoms//phenotypes associated to Dysarthria and Ectodermal dysplasia
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Hyperhidrosis | Common - Between 50% and 80% cases |
| Sparse hair | Uncommon - Between 30% and 50% cases |
| Hypotrichosis | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Dysarthria and Ectodermal dysplasia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Sparse eyelashes Sparse and thin eyebrow Nail dysplasia Hypodontia Syndactyly Abnormality of the dentition Pili torti Global developmental delay Anhidrosis Recurrent respiratory infections Cutaneous finger syndactyly Aplasia/Hypoplasia of the eyebrow Abnormality of dental morphology Palmoplantar hyperkeratosis Hypohidrosis Sparse scalp hair Microdontia Feeding difficulties Carious teeth Cutaneous photosensitivity Heat intolerance Conical tooth Growth delay Anodontia Alopecia Midface retrusion EEG abnormality Hyperkeratosis Malar flattening Epidermal acanthosis Downslanted palpebral fissures Palmoplantar keratoderma Micrognathia Cleft palate Wide nasal bridge
Rare Symptoms - Less than 30% cases
Progressive hypotrichosis Absence seizures Scaling skin Generalized hypotonia Dystrophic fingernails Abnormality of the philtrum Cutaneous syndactyly of toes Ichthyosis Sparse lateral eyebrow Dystrophic toenail Cognitive impairment Intellectual disability, severe Erythema Fever Frontal bossing Osteoporosis Febrile seizures Myoclonus Tremor Ataxia Bilateral cleft lip and palate Absent eyebrow Joint laxity Abnormal oral mucosa morphology Generalized osteoporosis Flexion contracture Thin skin Skin ulcer Nail dystrophy Strabismus Hypogonadism Toe syndactyly Synophrys Cleft upper lip Neurological speech impairment Cleft lip Oral cleft Highly arched eyebrow Cerebellar atrophy Macrotia Wide intermamillary distance Abnormal facial shape Absent speech Finger syndactyly Abnormality of the ureter Abnormality of the ear Brittle hair Protruding ear Scrotal hypoplasia Delayed speech and language development Microcephaly Abnormality of dental enamel Poor speech Bilateral single transverse palmar creases Hyperlordosis Narrow nose Abnormality of the periventricular white matter Self-mutilation Restlessness Arachnodactyly Short columella Thick eyebrow Abnormality of the cerebral white matter Broad hallux phalanx Cleft soft palate Excessive salivation Overbite Broad forehead Long nose Pes valgus Smooth philtrum Happy demeanor Toe clinodactyly Talipes Joint hyperflexibility Median cleft palate Large beaked nose Abnormality of digit Drooling Myopathic facies Intellectual disability, profound Dacryocystitis Thin vermilion border Short palm Facial asymmetry Wide nose Downturned corners of mouth Sleep disturbance Long face Prominent nose Dental malocclusion Convex nasal ridge Decreased testicular size Fine hair Bilateral talipes equinovarus Short palpebral fissure Hemiparesis Broad-based gait Broad thumb Dental crowding Long eyelashes Microretrognathia Bulbous nose Oligodontia Tented upper lip vermilion Relative macrocephaly Dermal atrophy Overlapping toe Abnormality of the foot Generalized hyperkeratosis Incomprehensible speech EEG with polyspike wave complexes Hypernatremic dehydration Conjunctival hamartoma Cerebral atrophy Depressivity Dementia Mental deterioration Generalized tonic-clonic seizures Neurodegeneration Intention tremor Limb ataxia Muscle fibrillation Olivopontocerebellar atrophy Giant somatosensory evoked potentials Congenital bullous ichthyosiform erythroderma Morning myoclonic jerks Lafora bodies Scoliosis Peripheral neuropathy Areflexia Elevated serum creatine phosphokinase Gait ataxia Difficulty walking Sensory neuropathy Progressive cerebellar ataxia Clumsiness Atonic seizures Hypernatremia Short philtrum Narrow maxilla Palmar hyperkeratosis Conspicuously happy disposition Narrow jaw Small nail Hypoplasia of dental enamel Abnormality of the hair Cutaneous syndactyly Widely spaced teeth Coarse hair Hypoplastic toenails Ridged nail Hypoplasia of teeth Patchy alopecia Absent facial hair Disseminated intravascular coagulation Epidermal hyperkeratosis 2-3 toe cutaneous syndactyly Weight loss Confusion Sepsis Abnormal blistering of the skin Dehydration Recurrent skin infections Erythroderma Skin vesicle Fragile skin Congenital ichthyosiform erythroderma Poor appetite Prominent nasal bridge Abnormality of the tongue Attention deficit hyperactivity disorder Concave nail Type I diabetes mellitus Short chin Dysphonia Prominent supraorbital ridges Agenesis of permanent teeth Sparse body hair Hypoplastic nipples Rhinitis Absent eyelashes Soft skin Taurodontia Anterior hypopituitarism Absent nipple Depressed nasal ridge Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Hearing impairment Sensorineural hearing impairment Pain Delayed skeletal maturation Severe short stature Carcinoma Hoarse voice Eczema Papule Pterygium Visual impairment Hypoplasia of the corpus callosum Constipation Gastroesophageal reflux Abnormality of the eye Abnormality of eye movement Inability to walk Postnatal microcephaly Abnormality of the kidney Triangular face Abnormal dermatoglyphics Bilateral cleft lip Hypoplasia of the zygomatic bone Anteverted ears Underdeveloped nasal alae Depressed nasal bridge Hypertension Respiratory distress Short nose Immunodeficiency Prominent forehead Respiratory tract infection Dry skin Short distal phalanx of finger Thick vermilion border Everted lower lip vermilion Delayed eruption of teeth Hypoplasia of the maxilla Corneal opacity Pruritus Postnatal growth retardation Long philtrum Hypertelorism Muscular hypotonia Spasticity Ptosis Low-set ears High palate Hyperreflexia Brachydactyly Macrocephaly Talipes equinovarus Anteverted nares Behavioral abnormality Hernia Anal fissure Inguinal hernia Clinodactyly of the 5th finger Posteriorly rotated ears Brachycephaly Hyperactivity Narrow mouth Autism High forehead Osteopenia Thin upper lip vermilion Anxiety Aggressive behavior Camptodactyly Short stature Skin fissure Inflammatory abnormality of the skin Oral leukoplakia Thickened skin Abnormality of the fingernails Opacification of the corneal stroma Osteolysis Neoplasm of the skin Cutis laxa Melanoma Mutism Squamous cell carcinoma Curly hair Parakeratosis Neoplasm of the lung Ankylosis Hypergranulosis Circumungual hyperkeratosis Subungual hyperkeratosis Amniotic constriction ring Trichorrhexis nodosa Alopecia universalis Abnormal cornea morphology Plantar hyperkeratosis Abnormality of the gingiva Palmoplantar hyperhidrosis Hidrotic ectodermal dysplasia Autoamputation Foot pain Ainhum Agenesis of premolar Motor deterioration
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