Ataxia, and Overgrowth

Diseases related with Ataxia and Overgrowth

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

Top matches:

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Other less relevant matches:

This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match NARP SYNDROME

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

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

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 20

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

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

Top 5 symptoms//phenotypes associated to Ataxia and Overgrowth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Cognitive impairment Strabismus Abnormal facial shape Hypertelorism Microcephaly Hyperreflexia Behavioral abnormality Downslanted palpebral fissures Spasticity Nystagmus Short stature Mandibular prognathia Abnormality of the skeletal system Scoliosis Widely spaced teeth Visual loss Wide mouth Myopia Kyphoscoliosis Epicanthus Anteverted nares Delayed speech and language development High forehead Cerebellar atrophy Kyphosis Cerebral cortical atrophy Blindness Motor delay Dysarthria Optic atrophy Intellectual disability, severe Anxiety Abnormal cerebellum morphology Muscle weakness Developmental regression Absent speech Visual impairment Gingival overgrowth Frontal bossing Gait disturbance Encephalopathy Clinodactyly Difficulty walking

Rare Symptoms - Less than 30% cases

Paresthesia Nyctalopia Flat occiput Involuntary movements Babinski sign Arrhythmia Vomiting Cardiomyopathy Psychosis Dysphagia Tetraparesis Hyperostosis Progressive gait ataxia Joint laxity Cerebral atrophy Upslanted palpebral fissure Ventriculomegaly Low-set ears Hyperkinesis Self-injurious behavior Muscular hypotonia Intellectual disability, progressive Paraplegia Hoarse voice Spastic paraplegia Camptodactyly Hydronephrosis Spastic paraparesis Brachydactyly Emotional lability Premature loss of teeth Drooling Aspiration Cranial asymmetry Cataract Edema Macroglossia Sleep disturbance Deeply set eye Hyperactivity Brachycephaly Constipation Inguinal hernia Syndactyly Midface retrusion Gliosis Coarse facial features Tall stature EEG abnormality Abnormality of cardiovascular system morphology Autistic behavior Macrotia Abnormality of the dentition Intellectual disability, mild Dental crowding Thick lower lip vermilion Long philtrum Epileptic spasms Speech apraxia Short middle phalanx of the 5th finger Myoclonus Recurrent respiratory infections Delayed skeletal maturation Hernia Dry hair Abnormality of metabolism/homeostasis Recurrent infections Diarrhea Splenomegaly Mental deterioration Muscle fibrillation Thickened calvaria Trichorrhexis nodosa Madelung deformity Short neck Hepatomegaly Palpebral edema Hepatosplenomegaly Erythema Chronic diarrhea Hydrops fetalis Mitral regurgitation Progressive neurologic deterioration Vertebral hyperostosis Neuronal loss in central nervous system Cranial hyperostosis Generalized myoclonic seizures Retinal dysplasia Mild global developmental delay Ascites Slow-growing hair Neutropenia Short hallux Abnormal cortical bone morphology Abnormality of the nose Acne Wide nose Pathologic fracture Platyspondyly Neurogenic bladder Cubitus valgus Depressed nasal bridge Broad columella Spastic diplegia Hammertoe Impaired vibratory sensation Progressive spastic paraparesis Abnormality of the hand Narrow nasal ridge Slurred speech Abnormal diaphysis morphology Selective tooth agenesis Scleroderma Pseudohypoparathyroidism Clonus Premature loss of primary teeth Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Ankle clonus Cerebellar vermis atrophy Hyperplasia of midface Abnormal hand morphology Low hanging columella Broad alveolar ridges Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormality of brain morphology Ankle contracture Abnormality of the nares Overbite Mood swings Upper limb spasticity Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Dysostosis multiplex Abnormality of the ovary Beaking of vertebral bodies Palmoplantar keratoderma Abnormal form of the vertebral bodies Short palpebral fissure Fine hair Hypotelorism Cerebral calcification Microdontia Underdeveloped nasal alae Microcornea Flat face Abnormality of the metaphysis Cleft upper lip Toe syndactyly Carious teeth Hypotrichosis Abnormality of the cerebral white matter Hip dislocation Aplasia/Hypoplasia of the middle phalanges of the hand Optic nerve dysplasia Finger syndactyly Joint contracture of the 5th finger Hypoplasia of dental enamel Camptodactyly of finger Reduced number of teeth Brittle hair Aplasia/Hypoplasia of the cerebellum Preaxial hand polydactyly Preaxial polydactyly Non-midline cleft lip Abnormality of the ear Progressive spasticity Bilateral ptosis Abnormality of vision Lymphedema Spastic tetraparesis Abnormality of the fingernails Narrow nasal bridge High hypermetropia Abnormality of dental enamel Metaphyseal dysplasia Paraparesis Basal ganglia calcification Abnormality of the nail Curly hair Hyperintensity of cerebral white matter on MRI Macroorchidism Angiokeratoma Abnormality of the clavicle Micrognathia Aspartylglucosaminuria Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Taurodontia Hypoparathyroidism Hypoplastic frontal sinuses Fragile nails Adenoma sebaceum Facial edema Vacuolated lymphocytes Visceromegaly Hand polydactyly Spondylolisthesis Broad face Cleft palate Ptosis Blepharophimosis Median cleft lip Sparse hair 3-4 toe syndactyly Tooth abscess Abnormality of the pinna Hyperactive deep tendon reflexes Abnormality of the eye Abnormality of the nervous system Abnormality iris morphology External ear malformation Conductive hearing impairment Ventricular septal defect Hypoglycemia Umbilical hernia Narrow nose Glaucoma 4-5 finger syndactyly Clinodactyly of the 5th finger Microphthalmia Short nose Atrial septal defect Polydactyly Status epilepticus Specific learning disability Proptosis Lumbar hyperlordosis High myopia Triangular face Long face Arachnodactyly Prominent nasal bridge Hyperlordosis Pes planus Prominent forehead Large hands Posteriorly rotated ears Cerebellar hypoplasia Malar flattening Hydrocephalus High palate Aplasia/Hypoplasia of the optic nerve Abnormal pulmonary valve morphology Unilateral cryptorchidism Abnormality of the sternum Sparse eyebrow Disproportionate tall stature Large for gestational age Peripheral neuropathy Acidosis Dyspnea Dementia Rod-cone dystrophy Headache Dystonia Myopathy Respiratory distress Tremor Pain Long fingers Severe expressive language delay Thick corpus callosum Long neck Expressive language delay Metopic synostosis Slender build Communicating hydrocephalus Long foot Megalencephaly Neurofibromas Optic nerve hypoplasia Hypertrophic cardiomyopathy Epileptic encephalopathy Obtundation status Abnormal palmar dermatoglyphics Small earlobe Global brain atrophy Focal impaired awareness seizure Sandal gap Cerebral visual impairment Hypsarrhythmia Inability to walk Bulbous nose Sclerotic vertebral endplates Cutaneous finger syndactyly Short finger Increased intracranial pressure Small nail Nail dysplasia Dental malocclusion Facial asymmetry Facial palsy Synophrys Thick eyebrow Accelerated skeletal maturation Wide nasal base Broad nasal tip Pulmonic stenosis Broad forehead Pectus carinatum Thin upper lip vermilion Congenital, generalized hypertrichosis Thoracic kyphoscoliosis Generalized hypertrichosis Thick nasal alae Gingival fibromatosis Hirsutism Peritonitis Deep philtrum Relative macrocephaly Generalized hirsutism Low anterior hairline Depressed nasal ridge Hypertrichosis Delayed eruption of teeth Thick vermilion border Proximal muscle weakness Apnea Prominent nose Albinism Fair hair Blue irides Overweight Drowsiness Protruding tongue Atonic seizures Keratoconus Polyphagia Incoordination Profound global developmental delay Cerebral palsy Exotropia Postnatal microcephaly Abnormality of the face Clumsiness Broad-based gait Intellectual disability, profound Generalized-onset seizure Focal-onset seizure Short attention span Moderate global developmental delay Hypopigmentation of the skin Skeletal muscle atrophy Short foot Distal amyotrophy Joint hypermobility Dysmetria Lower limb muscle weakness Genu valgum Abnormality of the foot Pes cavus Pectus excavatum Flexion contracture Happy demeanor Failure to thrive Growth delay Anisometropia Paroxysmal bursts of laughter Tongue thrusting Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Hypoplasia of the maxilla Falls Irritability Pigmentary retinopathy Hyperventilation Infantile spasms Sensory axonal neuropathy Constriction of peripheral visual field Oral-pharyngeal dysphagia Poor suck External ophthalmoplegia Optic disc pallor Chorea Progressive external ophthalmoplegia Generalized muscle weakness Muscle cramps Neurodegeneration Sensory neuropathy Lactic acidosis Ophthalmoplegia Retinopathy Paralysis Pallor Mitochondrial myopathy Heart block Astigmatism Feeding difficulties Infertility Abnormality of movement Hypermetropia Neurological speech impairment Feeding difficulties in infancy Gastroesophageal reflux Autism Obesity Fever Sensorineural hearing impairment Asymmetric septal hypertrophy Corticospinal tract atrophy Abnormal visual field test Abnormal mitochondria in muscle tissue Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Myoclonic spasms Breathing dysregulation Thin anteverted nares


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