Brachydactyly, and Dysarthria
Diseases related with Brachydactyly and Dysarthria
In the following list you will find some of the most common rare diseases related to Brachydactyly and Dysarthria that can help you solving undiagnosed cases.
Top matches:
Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- High palate
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41
Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Scoliosis
- Ataxia
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAYMedium match PGM3-CDG
PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MENDELIAN
More info about PGM3-CDG
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Other less relevant matches:
Medium 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 ACHONDROPLASIAMedium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE
Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Hypertelorism
- Low-set ears
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPEMedium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20
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 20Medium match OROFACIODIGITAL SYNDROME I; OFD1
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
More info about OROFACIODIGITAL SYNDROME I; OFD1
Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
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
More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
Low match MARINESCO-SJÖGREN SYNDROME
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 SYNDROMELow match OCULODENTODIGITAL DYSPLASIA
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 DYSPLASIATop 5 symptoms//phenotypes associated to Brachydactyly and Dysarthria
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Abnormality of the skeletal system | Common - Between 50% and 80% cases |
| High palate | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Brachydactyly and Dysarthria. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly Ataxia Hearing impairment Global developmental delay Spastic paraplegia Hyperreflexia Paraplegia Spasticity Muscle weakness Scoliosis Epicanthus Hypertelorism Generalized hypotonia Clinodactyly Cerebellar atrophy Failure to thrive Abnormal cerebellum morphology Flexion contracture Low-set ears Sparse hair Midface retrusion Anteverted nares Carious teeth Frontal bossing Conductive hearing impairment Gait ataxia Micrognathia Cognitive impairment Nystagmus Cone-shaped epiphysis Babinski sign Spastic paraparesis Short metacarpal Skeletal muscle atrophy
Rare Symptoms - Less than 30% cases
Abnormality of the metaphysis Neurological speech impairment Short palm Dental malocclusion Clonus Abnormal form of the vertebral bodies Dental crowding Severe short stature Wormian bones Optic atrophy Hyperlordosis Fine hair Deeply set eye Malar flattening Delayed skeletal maturation Kyphosis Hydrocephalus Hip dislocation Microcornea Depressed nasal bridge Muscular hypotonia Abnormality of the nervous system Cubitus valgus Mild global developmental delay Recurrent respiratory infections Hyporeflexia Cerebral atrophy Ptosis Short finger Polydactyly Smooth philtrum Hypotrichosis Infantile muscular hypotonia Pectus carinatum Pes planus Hypogonadism Dry hair Median cleft lip Short metatarsal Hypoplasia of dental enamel Underdeveloped nasal alae Avascular necrosis of the capital femoral epiphysis Recurrent infections Slow-growing hair Microdontia Alopecia Syndactyly Abnormality of the dentition Cleft palate Pseudohypoparathyroidism Strabismus Progressive muscle weakness Overgrowth Specific learning disability Camptodactyly Kyphoscoliosis Cataract Downslanted palpebral fissures Abnormality of the cerebral white matter Premature loss of teeth Myoclonus Peripheral neuropathy Difficulty walking Behavioral abnormality Hypoplasia of the corpus callosum Impaired vibratory sensation Progressive cerebellar ataxia Paraparesis Arachnoid cyst Hammertoe Cerebellar vermis atrophy Progressive spastic paraplegia Distal amyotrophy Progressive spasticity Pes cavus Dysphagia Facial asymmetry Lower limb spasticity Sensorimotor neuropathy Motor delay Dysmetria Abnormal facial shape Spastic ataxia Abnormality of the foot Hypertonia Coxa magna Myopathy Intellectual disability, severe Nasal speech Enuresis Accelerated bone age after puberty Epileptic spasms Chin with horizontal crease Cone-shaped epiphyses of the proximal phalanges of the hand Swelling of proximal interphalangeal joints Infantile spasms Ivory epiphyses of the distal phalanges of the hand Immunodeficiency Rigidity Areflexia Decreased antibody level in blood Sandal gap Type I diabetes mellitus Coxa valga Muscle stiffness Hypergonadotropic hypogonadism Short thumb Limb ataxia Hypertrichosis Hip dysplasia Hypsarrhythmia Elevated serum creatine phosphokinase Dyskinesia Synophrys Congenital cataract Muscular dystrophy Intellectual disability, moderate Cone-shaped epiphyses of the middle phalanges of the hand Short chin Cerebral cortical atrophy Cerebellar hypoplasia Abnormally low-pitched voice Concave nail Pear-shaped nose Lobulated tongue Long philtrum Pain Trident hand Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Narrow naris Distal muscle weakness Deviation of finger Pancreatic cysts Hepatic cysts Porencephalic cyst Abnormal pyramidal sign Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Posteriorly rotated ears Macrotia Thin nail Scapular winging Flat capital femoral epiphysis Oval face Leukonychia Thin eyebrow Dysphonia Enuresis nocturna Spondylolisthesis Sparse lateral eyebrow Deep philtrum Narrow palate Osteopenia Osteoarthritis Sparse scalp hair Delayed eruption of teeth Bulbous nose Stroke Protruding ear Low-set, posteriorly rotated ears Thin upper lip vermilion EEG abnormality Arthralgia Abnormality of the metacarpal bones Rimmed vacuoles Small hand High hypermetropia Fragile nails Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose External ear malformation Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Metaphyseal dysplasia Narrow nasal bridge Retinal dysplasia Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Hand polydactyly Brittle hair Preaxial polydactyly Bilateral ptosis Reduced number of teeth Low hanging columella Short hallux Spastic tetraparesis Madelung deformity Vertebral 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 Cranial hyperostosis Broad alveolar ridges Abnormal cortical bone morphology Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Neurogenic bladder Abnormality of the nose Abnormality of vision Abnormality of the fingernails Congenital muscular dystrophy Abnormal lactate dehydrogenase activity Short nose Blindness Edema Atrial septal defect Ventricular septal defect Gait disturbance Myopia Visual impairment Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Cerebellar cortical atrophy Abnormality of cardiovascular system morphology Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Muscle fiber necrosis Autophagic vacuoles Abnormality of finger Centrally nucleated skeletal muscle fibers External genital hypoplasia Myopathic facies Microphthalmia Visual loss Abnormality of dental enamel Toe syndactyly Abnormality of the nail Lymphedema Short palpebral fissure Tetraparesis Hypotelorism Cerebral calcification Palmoplantar keratoderma Flat face Cleft upper lip Paresthesia Finger syndactyly Arrhythmia Camptodactyly of finger Blepharophimosis Abnormality of the pinna Abnormality of the eye Hypoglycemia Umbilical hernia High forehead Mandibular prognathia Glaucoma Upslanted palpebral fissure Clinodactyly of the 5th finger Myelomeningocele Radial deviation of finger Increased number of teeth Disproportionate short-limb short stature Disproportionate short stature Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Elbow dislocation Abnormality of pelvic girdle bone morphology Genu varum Short long bone Acanthosis nigricans Obstructive sleep apnea Progressive gait ataxia Impaired smooth pursuit Rhizomelia Demyelinating peripheral neuropathy Bowing of the long bones Absent Achilles reflex Upper motor neuron dysfunction Lumbar hyperlordosis Abnormality of the ribs Limb undergrowth Spinal canal stenosis Abnormality of the elbow Decreased number of large peripheral myelinated nerve fibers Platyspondyly Metaphyseal widening Intellectual disability, progressive Coxa vara Low anterior hairline Abnormality of the face Optic disc pallor Delayed myelination Broad nasal tip Thick eyebrow Coarse facial features Large forehead Short neck Impaired vibration sensation in the lower limbs Acromelia Abnormality of the ilium Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Sudden cardiac death Micromelia Urinary urgency Eczema Combined immunodeficiency Glomerulonephritis Recurrent skin infections Leukopenia Narrow palpebral fissure Vasculitis Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Lymphoma Severe combined immunodeficiency Sensory impairment Asthma Neutropenia Hemolytic anemia Erythema Respiratory tract infection Progressive truncal ataxia Swan neck-like deformities of the fingers Gastroesophageal reflux Sensorineural hearing impairment Atopic dermatitis Allergic rhinitis Joint hyperflexibility Loss of Purkinje cells in the cerebellar vermis Narrow chest Scanning speech Joint stiffness Gaze-evoked horizontal nystagmus Apnea Hyperhidrosis Decreased sensory nerve conduction velocity Obesity Vitamin E deficiency Impaired tactile sensation Parietal cortical atrophy Membranoproliferative glomerulonephritis Abnormality of the pons Ventriculomegaly Abnormal motor evoked potentials Macrocephaly Intrauterine growth retardation Hypermyelinated retinal nerve fibers Abnormality of the cerebellar peduncle Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Short femoral neck Broad palm Atrioventricular canal defect Morphea Renal insufficiency Mitral valve prolapse Tremor Wide nasal bridge Hypertension Cerebellar vermis hypoplasia Intention tremor Hyperplasia of midface Hyperextensible hand joints Suicidal ideation Dilatation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Mood swings Upper limb spasticity Speech apraxia Urinary incontinence Depressivity Abnormality of the thumb Bifid uvula Nephronophthisis Agenesis of permanent teeth Milia Molar tooth sign on MRI Anemia Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Hepatic fibrosis Unsteady gait Postaxial polydactyly Abnormal heart morphology Stage 5 chronic kidney disease Oral cleft Peripheral axonal neuropathy Falls Abnormality of the kidney Cleft lip Telecanthus Proteinuria Distal sensory impairment Agenesis of corpus callosum Spastic dysarthria Dysuria Thin ribs Metaphyseal cupping of metacarpals Pectus excavatum Intellectual disability, mild Decreased motor nerve conduction velocity Impotence Delayed speech and language development Growth delay Peg-like central prominence of distal tibial metaphyses Cone-shaped capital femoral epiphysis Widened subarachnoid space Anterior rib cupping Hydronephrosis Prominent sternum Subcortical cerebral atrophy Flattened epiphysis Small epiphyses Flared iliac wings Delayed CNS myelination Spondyloepimetaphyseal dysplasia Thoracic kyphosis Broad foot Hypoplasia of the odontoid process Constipation Anxiety Upper limb muscle weakness Hallucinations Ankle contracture Scleroderma Ankle clonus Spastic diplegia Emotional lability Abnormality of the hand Slurred speech Drooling Hoarse voice Spastic gait Choreoathetosis Decreased nerve conduction velocity Psychosis Foot dorsiflexor weakness Absence seizures Prominent nose Gliosis Sleep disturbance Short foot Joint hypermobility Lower limb muscle weakness Genu valgum Thin anteverted nares
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