Ataxia, and Camptodactyly

Diseases related with Ataxia and Camptodactyly

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


Top matches:

Low match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Low match POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME


Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

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

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Other less relevant matches:

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Low match JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Low match ALLAN-HERNDON-DUDLEY SYNDROME


Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


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

Low match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Low match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Top 5 symptoms//phenotypes associated to Ataxia and Camptodactyly

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Seizures Microcephaly Short stature Nystagmus Muscular hypotonia Babinski sign Failure to thrive Neonatal hypotonia Abnormal facial shape Abnormality of the foot Low-set ears Feeding difficulties Motor delay Cerebellar atrophy Hypospadias Cerebral cortical atrophy Kyphoscoliosis Respiratory insufficiency Cataract Skeletal muscle atrophy Intellectual disability, mild Dysarthria High palate Peripheral neuropathy Gait ataxia Long philtrum Cryptorchidism Increased serum lactate Frontal bossing Wide nasal bridge Intrauterine growth retardation Cognitive impairment Spasticity Anteverted nares Growth delay Brachydactyly Dysmetria Epicanthus Delayed speech and language development Inability to walk Sensory neuropathy Interphalangeal joint contracture of finger Camptodactyly of finger Clinodactyly Talipes equinovarus Hearing impairment Abnormality of the skeletal system Absent speech

Rare Symptoms - Less than 30% cases


Micrognathia Apraxia Cerebellar hypoplasia Hyporeflexia Hypertension Cerebral atrophy Hepatomegaly Dental crowding Cardiomyopathy Congestive heart failure Thin upper lip vermilion Difficulty walking Tremor CNS hypomyelination Drooling Behavioral abnormality Clonus Pes cavus Choreoathetosis Paraplegia Spastic paraplegia Protruding ear Hypothyroidism Pectus excavatum Hyperreflexia Rotary nystagmus Osteoporosis Retrognathia Abnormal cerebellum morphology Dolichocephaly Microphthalmia Hypertelorism 3-Methylglutaconic aciduria Decreased testicular size Hyperammonemia Oligohydramnios Aciduria Lactic acidosis Short philtrum Wide mouth Hypertrophic cardiomyopathy Intention tremor Acidosis Macrocephaly Bowel incontinence Blindness Joint contracture of the hand Microretrognathia Impaired vibratory sensation Urinary incontinence Gait disturbance Broad-based gait Rod-cone dystrophy Axonal degeneration Visual impairment Poor head control Kyphosis Impaired proprioception Abnormality of movement Pes planus Distal muscle weakness Myopathic facies Areflexia Inguinal hernia Sensory ataxia Hammertoe Smooth philtrum Cerebellar vermis atrophy Toe syndactyly Scleroderma Abnormality of the hand Ankle clonus Emotional lability Spastic diplegia Upper limb muscle weakness Ankle contracture Premature loss of teeth Dysuria Abnormality of the thumb Hypermetropia Spastic dysarthria Speech apraxia Upper limb spasticity Mood swings Overbite Abnormality of the nares Abnormality of brain morphology Abnormal hand morphology Knee clonus Panic attack Slurred speech Hallucinations Single transverse palmar crease Dysphagia High myopia Progressive microcephaly Constipation Cutaneous syndactyly Midface retrusion Spondyloepiphyseal dysplasia Downslanted palpebral fissures Anxiety Mild microcephaly Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Hypoplasia of the musculature Hydronephrosis Genu valgum Spastic paraparesis Overgrowth Hoarse voice Spastic gait Suicidal ideation Progressive muscle weakness Tapered finger Lower limb spasticity Psychosis Specific learning disability Lower limb muscle weakness Prominent nose Gliosis Sleep disturbance Febrile seizures Short foot Distal amyotrophy Joint hypermobility Narrow jaw Ventriculomegaly Morphea Aplasia/Hypoplasia of the corpus callosum Pulmonary arterial hypertension Genu recurvatum Malignant hyperthermia Myoglobinuria Axonal loss Leukoencephalopathy Encephalitis Decreased serum estradiol Flat occiput Abnormality of the neck Abnormal aortic valve morphology Moderate global developmental delay Hyperalaninemia Gastroparesis Motor axonal neuropathy Premature birth Rhabdomyolysis Flat face Respiratory failure Umbilical hernia Intellectual disability, moderate Abnormality of the kidney Arrhythmia Small for gestational age Encephalopathy Abnormality of peripheral nerve conduction Peripheral hypomyelination Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormal pulmonary valve morphology Secondary amenorrhea Hyperextensible hand joints Proximal muscle weakness Small hand Paresthesia Gastroesophageal reflux Congenital cataract Abnormal pyramidal sign Myalgia Hypoglycemia Microcornea Hypogonadism Abnormal cardiac septum morphology Abnormality of the dentition Fever Strabismus Hyperplasia of midface Polyneuropathy Chorea Anemia Hypogonadotrophic hypogonadism Myopia Syndactyly Recurrent infections Decreased motor nerve conduction velocity Postural tremor Hernia Narrow mouth Polyhydramnios Hypergonadotropic hypogonadism Long eyelashes Split hand Primary amenorrhea Mandibular prognathia Amenorrhea Peripheral demyelination Delayed CNS myelination Episodic tachypnea Macroorchidism Thick vermilion border Relative macrocephaly Hypertrichosis Short palpebral fissure Neuronal loss in central nervous system Macroglossia Delayed eruption of teeth Talipes Broad philtrum Abnormality of the cerebral white matter Autistic behavior Hepatosplenomegaly Coarse facial features Prominent forehead Sensorineural hearing impairment Abnormal sensory nerve conduction velocity Broad face Wide nasal base Ring scotoma Spontaneous abortion Hydrocephalus Depressed nasal bridge Severe lactic acidosis Severe failure to thrive Rocker bottom foot Severe muscular hypotonia Cardiac arrest Abnormality of cardiovascular system morphology Aortic valve stenosis Renal hypoplasia Cardiomegaly Metabolic acidosis Pulmonic stenosis Prominent nasal bridge Abnormal heart morphology Abnormality of peripheral nerves Flexion contracture of finger Polydactyly Narrow nasal bridge Nyctalopia Visual loss Optic atrophy Impaired tactile sensation Distal arthrogryposis Delayed ability to walk Long nose Pigmentary retinopathy Sensory axonal neuropathy Sandal gap Hip dysplasia Peripheral axonal neuropathy Unsteady gait Arachnodactyly Arthrogryposis multiplex congenita Muscle cramps Recurrent urinary tract infections Truncal titubation Gastrointestinal dysmotility Abnormality of the spinal cord Decreased sensory nerve conduction velocity Positive Romberg sign Titubation Chronic pain Decreased number of large peripheral myelinated nerve fibers Bone spicule pigmentation of the retina Limb ataxia Acanthocytosis Achalasia Undetectable electroretinogram Impaired vibration sensation in the lower limbs Scotoma Osteomyelitis Delayed gross motor development Renal insufficiency Craniosynostosis Hypoplasia of the zygomatic bone Feeding difficulties in infancy Tetraplegia Long face Severe global developmental delay Joint stiffness Abnormality of the pinna Irritability Abnormality of the nervous system Cerebral calcification Macrotia Proptosis Upslanted palpebral fissure Malar flattening Dystonia Intellectual disability, severe Ptosis Generalized muscle weakness Narrow forehead Enlarged fossa interpeduncularis Athetosis Central hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Generalized amyotrophy Aphasia Hallux valgus Intellectual disability, progressive Spastic tetraplegia Type I diabetes mellitus Muscle stiffness Bilateral single transverse palmar creases Narrow face Leukodystrophy Involuntary movements Open mouth Noncommunicating hydrocephalus Thickened superior cerebellar peduncle Coloboma Renal dysplasia Hypoplasia of the brainstem Chorioretinal coloboma Patent foramen ovale Abnormal electroretinogram Oculomotor apraxia Hepatic fibrosis Encephalocele External genital hypoplasia Postaxial hand polydactyly Dandy-Walker malformation Esotropia Renal cyst Retinal dystrophy Postaxial polydactyly Retinopathy Molar tooth sign on MRI Nephronophthisis Neonatal breathing dysregulation Abnormal saccadic eye movements Brainstem dysplasia Dysgenesis of the cerebellar vermis Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Accessory oral frenulum Acute kidney injury Abnormal corpus callosum morphology Abnormal renal physiology Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Impaired smooth pursuit Congenital blindness Central hypothyroidism



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