Ataxia, and Clinodactyly

Diseases related with Ataxia and Clinodactyly

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


Top matches:

Low match CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME


Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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Other less relevant matches:

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Low match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Low match SLC35A1-CDG


SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

SLC35A1-CDG Is also known as cdg iif|congenital disorder of glycosylation type iif|cmp-sialic acid transporter deficiency|congenital disorder of glycosylation type 2f|cdg-iif|carbohydrate deficient glycoprotein syndrome type iif|cdg2f|cdg syndrome type iif|cdgiif

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SLC35A1-CDG

Low 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

Top 5 symptoms//phenotypes associated to Ataxia and Clinodactyly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Clinodactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Visual impairment Spasticity Delayed speech and language development High palate Gait ataxia Encephalopathy Deeply set eye Cerebral visual impairment Feeding difficulties Cerebellar atrophy Behavioral abnormality Epicanthus Brachydactyly Strabismus Abnormal facial shape Scoliosis Cerebellar hypoplasia Epileptic encephalopathy Syndactyly Inability to walk Dysmetria

Rare Symptoms - Less than 30% cases


Muscular hypotonia of the trunk Dystonia Hypertonia Upslanted palpebral fissure Apraxia Hyperreflexia Short stature Mild microcephaly Talipes equinovarus Long philtrum Broad face Optic nerve hypoplasia Anteverted nares Poor speech Hypoplasia of the corpus callosum Flat occiput Hearing impairment Focal impaired awareness seizure Dental crowding Hyporeflexia Difficulty walking Cerebral atrophy Macrocephaly Kyphoscoliosis Joint laxity Hypermetropia Hypertelorism Optic atrophy Ptosis Low-set ears Brachycephaly Dysarthria Toe syndactyly Clinodactyly of the 5th finger Tapered finger Wide nasal bridge Chorea Delayed ability to walk Highly arched eyebrow Tented upper lip vermilion Finger clinodactyly Decreased antibody level in blood Short palpebral fissure Pachygyria Cortical gyral simplification Neuronal loss in central nervous system Macroglossia Atonic seizures IgA deficiency Protruding tongue IgG deficiency Delayed eruption of teeth Joint hypermobility Oral-pharyngeal dysphagia Synophrys Agitation Attention deficit hyperactivity disorder Thin upper lip vermilion Thick vermilion border Constipation Hypertrichosis Relative macrocephaly Dysphagia Micrognathia Ankle clonus Failure to thrive Truncal titubation Titubation Broad philtrum Respiratory distress Pneumonia Renal insufficiency Orofacial dyskinesia Prolonged bleeding time Cellulitis Tics Prominent forehead Hypoxemia Clonus Babinski sign Heart murmur Macrothrombocytopenia Sensorineural hearing impairment Decreased platelet glycoprotein Ib Subcutaneous hemorrhage Abnormal megakaryocyte morphology Abnormal platelet granules Pulmonary hemorrhage Hallux valgus Aortic regurgitation Thrombocytopenia Short philtrum Talipes Abnormality of the cerebral white matter Giant platelets Proteinuria Autistic behavior Camptodactyly Hepatosplenomegaly Generalized tonic-clonic seizures Recurrent bacterial infections Neutropenia Abnormal bleeding Webbed neck Hypotelorism Coarse facial features Cerebral cortical atrophy Aminoaciduria Horizontal nystagmus Obtundation status Broad-based gait Hirsutism Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Short nose Mandibular prognathia Sparse hair Low posterior hairline Narrow forehead Narrow palpebral fissure Oculomotor apraxia Poor head control Abnormality of finger Thick hair Anteverted ears Cleft palate Diplopia Generalized-onset seizure Pectus carinatum Abnormal electroretinogram Muscular hypotonia Dementia Hypogonadism Neurological speech impairment Abnormality of retinal pigmentation Gynecomastia Hypogonadotrophic hypogonadism Personality changes Progressive cerebellar ataxia Hemiplegia/hemiparesis Supernumerary nipple Decreased fertility Abnormality of the hypothalamus-pituitary axis Cognitive impairment Motor delay Small hand Pectus excavatum Abnormality of movement Cyanosis Happy demeanor Cerebellar vermis hypoplasia Stereotypy Drooling Overlapping toe Poor eye contact Facial hypotonia Bruxism Fever Delayed myelination Tremor Rigidity Apnea Pallor Thin vermilion border Flat face Abnormal cerebellum morphology Hip dysplasia Single transverse palmar crease Blue sclerae Self-injurious behavior Rotary nystagmus Ankyloglossia Developmental regression Overgrowth Hypsarrhythmia Gingival overgrowth Sandal gap Global brain atrophy Unsteady gait Epileptic spasms Small earlobe Abnormal palmar dermatoglyphics Abnormality of the skeletal system Ventriculomegaly Pes cavus Abnormality of the pinna Wide nasal base



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Pneumonia, related diseases and genetic alterations Neuroblastoma and Epileptic encephalopathy, related diseases and genetic alterations Pain and Epicanthus, related diseases and genetic alterations Flexion contracture and Dilated cardiomyopathy, related diseases and genetic alterations Hypertelorism and Dandy-Walker malformation, related diseases and genetic alterations Sensorineural hearing impairment and Genu valgum, related diseases and genetic alterations

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