Dysarthria, and Finger syndactyly

Diseases related with Dysarthria and Finger syndactyly

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

Top matches:

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

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 6

Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL 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 SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Top 5 symptoms//phenotypes associated to Dysarthria and Finger syndactyly

Symptoms // Phenotype % cases
Syndactyly Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cleft lip Cleft upper lip Toe syndactyly Carious teeth Sparse hair Downslanted palpebral fissures Wide nasal bridge Scoliosis Oral cleft Ataxia Abnormality of the dentition Hearing impairment Microcephaly Neurological speech impairment Epicanthus Hypotrichosis EEG abnormality Glaucoma Strabismus Hypodontia Hypertelorism Abnormality of the ear Microdontia Scrotal hypoplasia Abnormality of dental enamel Clinodactyly Polydactyly Short stature Spasticity Brachydactyly Cognitive impairment Hypogonadism Cryptorchidism Gait ataxia

Rare Symptoms - Less than 30% cases

Difficulty walking High palate Highly arched eyebrow Low-set ears Tremor Non-midline cleft lip Nail dysplasia Ectodermal dysplasia Wide intermamillary distance Abnormality of the kidney Brittle hair Hypohidrosis Sparse and thin eyebrow Bilateral single transverse palmar creases Sparse eyelashes Global developmental delay Motor delay Synophrys Dry hair Malar flattening Frontal bossing Hydrocephalus Hypertension Facial palsy Generalized hirsutism Progressive cerebellar ataxia Alopecia Fragile nails Midface retrusion Telecanthus Narrow nose Areflexia Recurrent respiratory infections Proteinuria Macrotia Hyperlordosis Pain Protruding ear Median cleft lip Palmoplantar hyperkeratosis Abnormality of dental morphology Milia Progressive hypotrichosis Microphthalmia Abnormality of the ribs Bifid uvula Hepatic fibrosis Abnormality of the skeletal system Agenesis of permanent teeth Abnormality of the philtrum Cataract Mandibular prognathia Ptosis Gait disturbance Visual impairment Visual loss Abnormality of the cerebral white matter Pterygium Cutaneous syndactyly of toes Dystrophic toenail Cutaneous finger syndactyly Hypoplasia of dental enamel Nystagmus Abnormality of the ureter Postaxial polydactyly Bilateral cleft lip and palate Anodontia Pili torti Abnormality of the nail Cerebral calcification Sparse lateral eyebrow Underdeveloped nasal alae Dystrophic fingernails Palmoplantar keratoderma Macrocephaly Pectus excavatum Vertebral fusion Brachycephaly Abnormality of the sternum Abdominal pain Neoplasm Colitis Short 4th metacarpal Trident hand Thoracic scoliosis Sprengel anomaly Abnormality of toe Down-sloping shoulders Skin tags Basal cell carcinoma Abnormality of the neck Neoplasm of the endocrine system Broad face Long fingers Retrognathia Disproportionate tall stature Short ribs Exotropia Hemiparesis Hypotension Nevus Iris coloboma Arachnodactyly Papule Hyperpigmentation of the skin Bradycardia Coloboma Spina bifida Carcinoma Inflammation of the large intestine Coarse facial features Kyphoscoliosis Proptosis Muscle stiffness Hypogonadotrophic hypogonadism Hemivertebrae Spina bifida occulta Neoplasm of the skin Relative macrocephaly Glomerulonephritis Nephritis Melanocytic nevus Ulcerative colitis Pigmentary retinopathy Brain neoplasm Hypoplasia of the zygomatic bone Respiratory distress Feeding difficulties Flexion contracture Anteverted ears Anhidrosis Scaling skin Bilateral cleft lip Joint stiffness Aplasia/Hypoplasia of the eyebrow Abnormal dermatoglyphics Sparse scalp hair Triangular face Nail dystrophy Hyperhidrosis Medial flaring of the eyebrow Thin upper lip vermilion Falls Abnormal electroretinogram Ankyloglossia Lower lip pit Fibrous syngnathia Lip pit Nonketotic hyperglycinemia Popliteal pterygium Ankyloblepharon Hypoplastic labia majora Otitis media Bifid scrotum Cerebral palsy Abnormality of the genital system Choanal atresia Split hand Ambiguous genitalia Specific learning disability Hypoplasia of the ovary Multicystic kidney dysplasia Astrocytoma Parietal bossing Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Vertebral wedging Histiocytoma Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Calcification of falx cerebri Curved fingers Nephrotic syndrome Skeletal muscle atrophy Hypoplasia of penis Postaxial hand polydactyly Alveolar ridge overgrowth Prominent nasal bridge Low-set, posteriorly rotated ears Obesity Short neck Hamartomatous stomach polyps Bifid ribs Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Multiple glomerular cysts Depressivity Gray matter heterotopias Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Narrow nasal bridge Progressive spasticity Hyperostosis Preaxial hand polydactyly Cubitus valgus Hyperactive deep tendon reflexes Hand polydactyly Preaxial polydactyly Bilateral ptosis Reduced number of teeth Abnormality of vision Spastic tetraparesis Abnormality of the fingernails Curly hair Premature loss of teeth Paraparesis Neurogenic bladder Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Slow-growing hair Abnormality of the nose External ear malformation Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Taurodontia Abnormality of the clavicle Hypoparathyroidism Spastic paraparesis Lymphedema Narrow nasal ridge Short nose Hypoglycemia Umbilical hernia High forehead Upslanted palpebral fissure Clinodactyly of the 5th finger Arrhythmia Abnormality of cardiovascular system morphology Blindness Conductive hearing impairment Edema Atrial septal defect Anteverted nares Ventricular septal defect Optic atrophy Myopia Hyperreflexia Muscle weakness Deeply set eye Abnormality of the nervous system Dental crowding Microcornea Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palpebral fissure Tetraparesis Fine hair Hypotelorism Overgrowth Flat face Camptodactyly Paresthesia Paraplegia Spastic paraplegia Hip dislocation Camptodactyly of finger Blepharophimosis Abnormality of the pinna Abnormality of the eye Abnormal diaphysis morphology Progressive spastic paraparesis Hypothalamic hamartoma Dilated fourth ventricle Abnormal cerebellum morphology Stage 5 chronic kidney disease Facial asymmetry Agenesis of corpus callosum Abnormal heart morphology Dilatation Renal insufficiency Cerebellar vermis atrophy Cutaneous syndactyly Incoordination Cerebral visual impairment Diplopia Narrow forehead Generalized-onset seizure Epileptic encephalopathy Chorea Microretrognathia Polycystic kidney dysplasia Small hand Ovarian cyst Tongue nodules Lobulated tongue Narrow naris Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Abnormality of the pancreas Radial deviation of finger Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Increased number of teeth Atrioventricular canal defect Nephronophthisis Molar tooth sign on MRI Tapered finger Dysmetria Broad alveolar ridges 4-5 finger syndactyly Myoclonus Elevated serum creatine phosphokinase Cerebellar atrophy Fever Peripheral neuropathy Thin anteverted nares Vertebral hyperostosis Abnormality iris morphology Febrile seizures 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 Cranial hyperostosis Madelung deformity Sensory neuropathy Cutaneous photosensitivity Encephalopathy Brain atrophy Delayed speech and language development Abnormal facial shape Generalized hypotonia Onion bulb formation Decreased nerve conduction velocity Sensory impairment Urinary incontinence Polyneuropathy Clumsiness Distal sensory impairment Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Pes planus Motor deterioration Atonic seizures Absence seizures Intercrural pterygium


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