Ataxia, and Short phalanx of finger

Diseases related with Ataxia and Short phalanx of finger

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


Top matches:

Low match BRACHYDACTYLY TYPE E


Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

BRACHYDACTYLY TYPE E Is also known as bde|brachydactyly, type e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE E

Low match X-LINKED SPASTIC PARAPLEGIA TYPE 16


Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}.

X-LINKED SPASTIC PARAPLEGIA TYPE 16 Is also known as spg16

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED SPASTIC PARAPLEGIA TYPE 16

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

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Other less relevant matches:

Low match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

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 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Low match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

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

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low 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 DYSPLASIA

Top 5 symptoms//phenotypes associated to Ataxia and Short phalanx of finger

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short distal phalanx of finger Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Short phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Micrognathia Clinodactyly of the 5th finger Short stature Clinodactyly Nystagmus Cataract Hearing impairment Abnormal facial shape Gait ataxia Abnormality of the skeletal system Visual impairment Intellectual disability, mild High palate Scoliosis Epicanthus Hypoplasia of the maxilla Abnormality of the dentition Aggressive behavior Visual loss Kyphosis Hypertelorism Hyperreflexia Generalized hypotonia High forehead Cryptorchidism Upslanted palpebral fissure Syndactyly Broad forehead Spastic paraparesis Strabismus Spasticity Paraparesis

Rare Symptoms - Less than 30% cases


Arrhythmia Cleft palate Malar flattening Depressivity Muscle weakness Wide nasal bridge Mild global developmental delay Dental crowding Long nose Coarse facial features Cerebral cortical atrophy Hernia Blindness Flexion contracture 2-3 toe syndactyly Hepatomegaly Short palpebral fissure Paralysis Anteverted nares Underdeveloped nasal alae Fine hair Abnormality of the fingernails Conductive hearing impairment Aplasia/Hypoplasia of the cerebellum Deeply set eye Microphthalmia Gait disturbance Camptodactyly of finger Ptosis Cognitive impairment Anemia Hypoplasia of the corpus callosum Polydactyly Umbilical hernia Microdontia Cerebral calcification Wide mouth Blepharophimosis Prolonged QT interval Toe syndactyly Inability to walk Short foot Delayed eruption of teeth Thick vermilion border Tetraparesis Hypoplasia of dental enamel Scaphocephaly Developmental regression Basal ganglia calcification Skeletal muscle atrophy Atrial septal defect Intellectual disability, severe Autism Abnormality of the nervous system Abnormal form of the vertebral bodies Syncope Sparse scalp hair Spastic paraplegia Behavioral abnormality Pectus excavatum Short proximal phalanx of finger Long philtrum Motor delay Short nose Pseudohypoparathyroidism Short distal phalanx of the thumb Macrotia Frontal bossing Paraplegia Short metatarsal Short metacarpal Babinski sign Downslanted palpebral fissures Optic atrophy Feeding difficulties Hyperactivity Short middle phalanx of the 5th finger Restlessness Ectopic calcification Delayed speech and language development Facial asymmetry Macrocephaly Attention deficit hyperactivity disorder Synophrys Thin upper lip vermilion Hyperintensity of cerebral white matter on MRI 3-4 toe syndactyly Genu valgum Narrow chest Aplasia/Hypoplasia of the middle phalanges of the hand Optic nerve dysplasia Congenital cataract Prominent nasal bridge Protruding ear Abnormal pyramidal sign Joint contracture of the 5th finger Cranial hyperostosis Distal amyotrophy High hypermetropia Downturned corners of mouth Gynecomastia Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Abnormal diaphysis morphology Osteolysis Knee flexion contracture Hypergonadotropic hypogonadism Clonus Narrow nasal ridge Neurodegeneration Thickened skin Progressive spastic paraparesis Thick lower lip vermilion Broad alveolar ridges Bradykinesia Madelung deformity Hypothyroidism Hip dysplasia Otitis media Nevus Osteopenia Hypertonia Narrow mouth Short thorax Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short femoral neck Congenital hepatic fibrosis Cone-shaped epiphysis Trigonocephaly Widely spaced teeth Cutis laxa Short ribs Wide anterior fontanel Hepatic fibrosis Exotropia Vertebral hyperostosis Pancreatic cysts Brachycephaly Hydrocephalus Diabetes mellitus Hypogonadism Osteoporosis Pes cavus Agenesis of corpus callosum Areflexia Midface retrusion Myopathy Tooth abscess Hypoplasia of the capital femoral epiphysis Peripheral neuropathy Neoplasm Abnormality iris morphology Absence of renal corticomedullary differentiation Aplasia of the middle phalanx of the hand Frontal upsweep of hair 4-5 finger syndactyly Accessory oral frenulum Pyelonephritis Premature loss of primary teeth Sparse body hair Bilateral cryptorchidism Hypotrichosis Palmoplantar keratoderma Flat face Cleft upper lip Median cleft lip Narrow nose Hypoparathyroidism Paresthesia Carious teeth Abnormality of the clavicle Abnormality of the cerebral white matter Overgrowth Hip dislocation Taurodontia Finger syndactyly Recurrent urinary tract infections Fragile nails Low hanging columella Abnormality of the pinna Abnormality of the eye Camptodactyly Microcornea Hypotelorism Retinal dysplasia Brittle hair Progressive spasticity Metaphyseal dysplasia Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Cubitus valgus Hand polydactyly Curly hair Preaxial polydactyly Abnormality of the metaphysis Bilateral ptosis Hyperactive deep tendon reflexes Premature loss of teeth Reduced number of teeth Abnormality of vision External ear malformation Spastic tetraparesis Abnormality of dental enamel Abnormality of the nail Lymphedema Hypoglycemia Mandibular prognathia Metatarsus adductus Insulin-resistant diabetes mellitus Generalized osteoporosis Tics Dystrophic fingernails Broad face Trichorrhexis nodosa Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Striae distensae Bone cyst Hip contracture Congenital hypothyroidism Narrow nasal bridge Broad columella Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Selective tooth agenesis Dry hair Recurrent ear infections Short hallux Dysarthria Abnormal cortical bone morphology Glaucoma Abnormality of cardiovascular system morphology Edema Ventricular septal defect Abnormality of the nose Neurogenic bladder Myopia Slow-growing hair Superiorly displaced ears Narrow iliac wings Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Sparse hair Abnormality of the metacarpal bones Renal dysplasia Deep philtrum Delayed skeletal maturation Congestive heart failure Respiratory distress Fever Low-set ears Pain Short fourth metatarsal Increased nuchal translucency Multiple joint contractures Finger clinodactyly Pulmonic stenosis Cerebral visual impairment Gingival overgrowth Single transverse palmar crease Highly arched eyebrow Arthrogryposis multiplex congenita Pectus carinatum Inguinal hernia Cerebellar atrophy Aplasia of the 1st metacarpal Joint laxity Tachycardia Obsessive-compulsive trait Scapular winging Loss of consciousness Preauricular pit Myotonia Hypokalemia Growth abnormality Ventricular arrhythmia Oligodontia Bicuspid aortic valve Ventricular tachycardia Short chin Bulbous nose Cardiac arrest Decreased body weight Palpitations Renal hypoplasia Coarctation of aorta Specific learning disability Triangular face Small hand Short palm Hyperacusis Abnormality of finger Hyperkalemia Lower limb muscle weakness Sensory ataxia Shuffling gait Facial hypotonia Urinary bladder sphincter dysfunction Aphasia Urinary urgency Choreoathetosis Urinary incontinence Tetraplegia Aplasia/Hypoplasia of the distal phalanx of the hallux Mood swings Straight clavicles Type E brachydactyly Multiple impacted teeth Moderately short stature Upper limb asymmetry Short clavicles Round face Joint hypermobility Joint hyperflexibility Lower limb amyotrophy Low frustration tolerance Ventricular extrasystoles Pes planus Absent radius Obsessive-compulsive behavior Abnormality of the hand Low anterior hairline Hypodontia Tapered finger Thick eyebrow Poor speech Abnormal cardiac septum morphology Recurrent infections Functional abnormality of the bladder Dysphagia Short distal phalanx of the 2nd finger Short proximal phalanx of thumb Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Poor motor coordination Short 2nd finger Arachnodactyly Abnormality of the hallux Motor aphasia Functional abnormality of the gastrointestinal tract High pitched voice Agenesis of permanent teeth Cholestasis Prolonged QTc interval Short neck Depressed nasal bridge Gait apraxia Hypocapnia Nonprogressive encephalopathy Intermittent hyperventilation Abnormality of the antitragus Respiratory alkalosis Abnormal muscle tone Esodeviation Renal insufficiency Abnormal T-wave Astrocytosis Motor deterioration Developmental stagnation Alkalosis Bruxism Hyperventilation Progressive encephalopathy Loss of speech Respiratory insufficiency Pneumonia Thoracic scoliosis Oral cleft Narrow forehead Bifid uvula Macroglossia Renal cyst Nephropathy Retinal dystrophy Postaxial polydactyly Abnormality of skin pigmentation Retinal degeneration Stage 5 chronic kidney disease Rod-cone dystrophy Smooth philtrum Scarring Craniosynostosis Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Skeletal dysplasia Prominent forehead Posteriorly rotated ears Overweight Alzheimer disease Slender long bone Antegonial notching of mandible Hypospadias Dystonia Ventriculomegaly Tremor Muscular hypotonia Growth delay Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Periodic hyperkalemic paralysis Constipation Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Periodic paralysis Hyperthyroidism Abnormal heart valve morphology Encephalopathy Dementia Cachexia Wide nose Cerebral palsy Accelerated skeletal maturation Truncal ataxia Nephrolithiasis Postnatal microcephaly Progressive neurologic deterioration Intellectual disability, profound Apraxia Generalized-onset seizure Confusion Gastroesophageal reflux Abnormality of movement Muscular dystrophy Autistic behavior Mental deterioration Apnea Muscular hypotonia of the trunk Anxiety Rigidity EEG abnormality Kyphoscoliosis Thin anteverted nares



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