Ataxia, and Macroglossia
Diseases related with Ataxia and Macroglossia
In the following list you will find some of the most common rare diseases related to Ataxia and Macroglossia that can help you solving undiagnosed cases.
Top matches:
Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd
Related symptoms:
- Seizures
- Ataxia
- Macrocephaly
- Hydrocephalus
- Headache
SOURCES:
ORPHANET
MENDELIAN
More info about LHERMITTE-DUCLOS DISEASE
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.
INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).
SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii
Related symptoms:
- Intellectual disability
- Seizures
- Hearing impairment
- Ataxia
- Muscle weakness
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about SANDHOFF DISEASE, INFANTILE FORM
Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.
JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Micrognathia
SOURCES:
OMIM
MENDELIAN
More info about JOUBERT SYNDROME 1; JBTS1
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.
ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about ANGELMAN SYNDROME; AS
GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE
Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.
FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
MENDELIAN
More info about FUCOSIDOSIS
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).
SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9
Top 5 symptoms//phenotypes associated to Ataxia and Macroglossia
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Macrocephaly |
Common - Between 50% and 80% cases
|
Abnormal facial shape |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Ataxia and Macroglossia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Coarse facial features
Hearing impairment
Generalized hypotonia
Cerebellar atrophy
Hypertelorism
Nystagmus
Scoliosis
Brachydactyly
Absent speech
Hepatomegaly
Epicanthus
Prominent forehead
Cerebral cortical atrophy
Muscular hypotonia
Short stature
Wide mouth
Inguinal hernia
Kyphosis
Intellectual disability, severe
Highly arched eyebrow
Mandibular prognathia
Delayed speech and language development
Hyperreflexia
Micrognathia
Hyperhidrosis
Skeletal muscle atrophy
Hypoplasia of the corpus callosum
High palate
Hernia
Hyperactivity
Microcephaly
Rare Symptoms - Less than 30% cases
Renal cyst
Retinal dystrophy
Narrow forehead
Polydactyly
Aggressive behavior
Tremor
Cognitive impairment
Protruding tongue
Abnormality of skin pigmentation
Abnormality of the kidney
Brachycephaly
Feeding difficulties
Cryptorchidism
Short neck
Gait disturbance
Depressed nasal bridge
Growth delay
High forehead
Gingival overgrowth
Short distal phalanx of finger
Clinodactyly of the 5th finger
Visual impairment
Flexion contracture
Widely spaced teeth
Motor delay
Exotropia
Broad-based gait
Scaphocephaly
Neurological speech impairment
EEG abnormality
Gait ataxia
Cardiomegaly
Obesity
Behavioral abnormality
Skeletal dysplasia
Progressive psychomotor deterioration
Hepatic fibrosis
Hypertonia
Delayed eruption of teeth
Muscle weakness
Relative macrocephaly
Babinski sign
Sensorineural hearing impairment
Spasticity
Anteverted nares
Abnormality of the cerebral white matter
Recurrent respiratory infections
Cerebral atrophy
Autistic behavior
Clinodactyly
Hepatosplenomegaly
Kyphoscoliosis
Cerebellar hypoplasia
Blindness
Apraxia
Polymicrogyria
Hypoplasia of the capital femoral epiphysis
Distal lower limb amyotrophy
Small earlobe
Abnormality of earlobe
Abdominal obesity
Panhypopituitarism
Tics
Abnormal hair pattern
Down-sloping shoulders
Moderately short stature
Acute kidney injury
Joint laxity
Restlessness
Striae distensae
Biparietal narrowing
Intellectual disability, moderate
Cerebellar vermis atrophy
Mood swings
Abnormality of toe
Prominent metopic ridge
Delayed skeletal maturation
Short proximal phalanx of finger
Pes cavus
Aplasia of the middle phalanx of the hand
Hypogonadism
Micropenis
Osteoporosis
Frontal upsweep of hair
Failure to thrive
Accessory oral frenulum
Recurrent infections
Splenomegaly
Dystonia
Abnormal retinal morphology
Pes planus
Abnormality of the dentition
Abnormality of the musculature
Truncal obesity
Synophrys
Delayed puberty
Short foot
Small hand
Short palm
Bulbous nose
Joint hypermobility
Joint hyperflexibility
Camptodactyly of finger
Cone-shaped epiphyses of the phalanges of the hand
Memory impairment
Pyelonephritis
Short philtrum
Thoracic dysplasia
Cholangitis
Congenital hepatic fibrosis
Pancreatic cysts
Toe syndactyly
Prominent nose
Decreased testicular size
Cortical gyral simplification
Abnormality of the pinna
Cortical dysplasia
Open bite
Large hands
Cubitus valgus
Cachexia
Recurrent lower respiratory tract infections
Acanthosis nigricans
Sandal gap
Hypoplasia of penis
Narrow palpebral fissure
Gynecomastia
Short thumb
Thick lower lip vermilion
Intention tremor
Interphalangeal joint contracture of finger
Blepharophimosis
Nephronophthisis
Stage 5 chronic kidney disease
Hyperkeratosis
Tortuosity of conjunctival vessels
Anterior beaking of thoracic vertebrae
Microdontia
Sparse scalp hair
Cholestasis
Renal dysplasia
Glycopeptiduria
Recurrent urinary tract infections
Elevated sweat chloride
Bifid uvula
Abnormality of central motor function
Eye of the tiger anomaly of globus pallidus
Anterior beaking of lumbar vertebrae
Increased hepatic glycogen content
Abnormality of the acetabulum
Short phalanx of finger
Abnormality of mucopolysaccharide metabolism
Wide anterior fontanel
Cataract
Nephropathy
Abnormal globus pallidus morphology
Rod-cone dystrophy
Smooth philtrum
Scarring
Craniosynostosis
Low-set, posteriorly rotated ears
Cleft lip
Umbilical hernia
Upslanted palpebral fissure
Posteriorly rotated ears
Pneumonia
Postaxial polydactyly
Visual loss
Depressivity
Renal insufficiency
Respiratory insufficiency
Retinal degeneration
Frontal bossing
Wide nasal bridge
Anemia
Short ribs
Angiokeratoma corporis diffusum
Hypothyroidism
Abnormality of the cardiovascular system
Coxa valga
Abnormality of the nail
Spastic gait
Telangiectasia
Decreased body weight
Abnormal form of the vertebral bodies
Spastic tetraplegia
Dry skin
Chronic otitis media
Trigonocephaly
Cone-shaped epiphysis
Dysmetria
Short femoral neck
Corneal opacity
Abnormal pyramidal sign
Conductive hearing impairment
Oral cleft
Abnormality of pelvic girdle bone morphology
Anhidrosis
Oligosacchariduria
Vacuolated lymphocytes
Abnormality of the gallbladder
Angiokeratoma
Broad long bones
Hypospadias
Generalized hyperkeratosis
Vascular skin abnormality
Cerebral hypomyelination
Abnormality of the abdominal wall
Mucopolysacchariduria
Decreased muscle mass
Cutis laxa
Abnormal cornea morphology
Visceromegaly
Dysostosis multiplex
Acrocyanosis
Hypoplasia of the odontoid process
Lipoatrophy
Neurodevelopmental delay
Short thorax
Polyphagia
Immunodeficiency
Impaired thermal sensitivity
Prominent nasal bridge
Coloboma
Apnea
Abnormality of the eye
Telecanthus
Low-set ears
Ptosis
Abnormality of glycosphingolipid metabolism
Abnormality of eye movement
Cherry red spot of the macula
Upper motor neuron dysfunction
Motor deterioration
Supranuclear gaze palsy
Megalencephaly
Episodic abdominal pain
Orthostatic hypotension
Impotence
Abnormality of the foot
Long face
Hemiplegia
Hypoplasia of the brainstem
Central apnea
Optic nerve coloboma
Impaired smooth pursuit
Retinal dysplasia
Self-mutilation
Occipital encephalocele
Molar tooth sign on MRI
Chorioretinal coloboma
Downturned corners of mouth
Tachypnea
Oculomotor apraxia
Heterotopia
Encephalocele
Open mouth
Cerebellar vermis hypoplasia
Postaxial hand polydactyly
Dandy-Walker malformation
Emotional lability
Fasciculations
Agenesis of cerebellar vermis
Neoplasm of the thyroid gland
Camptodactyly
Hyporeflexia
Long philtrum
Talipes equinovarus
Trichilemmoma
Enlarged cerebellum
Fibroadenoma of the breast
Acrokeratosis
Inability to walk
Ovarian neoplasm
Hand polydactyly
Increased intracranial pressure
Cranial nerve paralysis
Nausea and vomiting
Papule
Headache
Hydrocephalus
Talipes
Thick vermilion border
Hypohidrosis
Respiratory tract infection
Chronic diarrhea
Progressive neurologic deterioration
Psychosis
Urinary incontinence
Progressive cerebellar ataxia
Neurodegeneration
Paralysis
Dementia
Neuronal loss in central nervous system
Dysarthria
Peripheral neuropathy
Wide nasal base
Broad philtrum
Broad face
Dental crowding
Hypertrichosis
Short palpebral fissure
Breathing dysregulation
Abnormal pattern of respiration
Ventriculomegaly
Drowsiness
Profound global developmental delay
Short attention span
Fair hair
Blue irides
Progressive gait ataxia
Epileptic spasms
Overweight
Atonic seizures
Happy demeanor
Keratoconus
Albinism
Flat occiput
Self-injurious behavior
Incoordination
Hyperkinesis
Drooling
Cerebral palsy
Moderate global developmental delay
Limb tremor
Aspiration
Finger clinodactyly
Downslanted palpebral fissures
Intrauterine growth retardation
Short fourth metatarsal
Increased nuchal translucency
Long nose
Multiple joint contractures
Deep philtrum
Cerebral visual impairment
Inappropriate laughter
Single transverse palmar crease
Arthrogryposis multiplex congenita
Pectus carinatum
Anisometropia
Paroxysmal bursts of laughter
Tongue thrusting
Large foramen magnum
Sleep-wake cycle disturbance
Intellectual disability, progressive
Postnatal microcephaly
Abnormal saccadic eye movements
Occipital myelomeningocele
Encephalopathy
Vomiting
Optic atrophy
Fever
Myopia
Strabismus
Triangular-shaped open mouth
Hemifacial spasm
Autism
Enlarged fossa interpeduncularis
Neonatal breathing dysregulation
Brainstem dysplasia
Dysgenesis of the cerebellar vermis
Episodic tachypnea
Elongated superior cerebellar peduncle
Abnormality of ocular smooth pursuit
Meningoencephalocele
Constipation
Gastroesophageal reflux
Abnormality of the face
Hypoplasia of the maxilla
Clumsiness
Status epilepticus
Intellectual disability, profound
Generalized-onset seizure
Overgrowth
Focal-onset seizure
Abnormal cerebellum morphology
Hypopigmentation of the skin
Deeply set eye
Sleep disturbance
Falls
Astigmatism
Infertility
Abnormality of movement
Hypermetropia
Feeding difficulties in infancy
Anxiety
Absence of renal corticomedullary differentiation
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Hydrocephalus and Abnormality of mitochondrial metabolism, related diseases and genetic alterations
Breast carcinoma and Colon cancer, related diseases and genetic alterations
Cataract and Pectus carinatum, related diseases and genetic alterations
Muscular hypotonia and Scarring, related diseases and genetic alterations
Muscular hypotonia and Abnormality of skin pigmentation, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more