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:

Medium match LHERMITTE-DUCLOS DISEASE


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

Medium match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match SANDHOFF DISEASE, INFANTILE FORM


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

Low match JOUBERT SYNDROME 1; JBTS1


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

Low match ANGELMAN SYNDROME; AS


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

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18


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

Low match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


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

Low match FUCOSIDOSIS


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

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


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
Mendelian

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 Encephalitis, related diseases and genetic alterations Myopathy and Sensory neuropathy, related diseases and genetic alterations Breast carcinoma and Colon cancer, related diseases and genetic alterations Cataract and Pulmonic stenosis, related diseases and genetic alterations Muscular hypotonia and Retinal detachment, related diseases and genetic alterations Muscular hypotonia and Tachycardia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more