Ataxia, and Retrognathia

Diseases related with Ataxia and Retrognathia

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


Top matches:

Medium match HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77


Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Medium match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Medium match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Medium 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

Medium match ALPERS-HUTTENLOCHER SYNDROME


Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Top 5 symptoms//phenotypes associated to Ataxia and Retrognathia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Short stature Microcephaly Micrognathia Muscular hypotonia Cognitive impairment Ventricular septal defect Failure to thrive Acidosis Low-set ears Ptosis Spasticity

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Areflexia Dysphagia 3-Methylglutaconic aciduria Severe failure to thrive Aciduria Increased serum lactate Cataract Cryptorchidism High palate Obstructive sleep apnea Hypospadias Severe muscular hypotonia Flexion contracture Peripheral neuropathy Kyphoscoliosis Lactic acidosis Waddling gait Paraparesis Spastic paraparesis Nystagmus Optic atrophy Growth delay Hepatomegaly Cerebellar atrophy Gait disturbance Spastic paraplegia Hyperreflexia Paraplegia Apnea Metabolic acidosis Poor head control Inability to walk Babinski sign Gait ataxia Frontal bossing Celiac disease Clumsiness Hepatitis Status epilepticus Tics Hemiparesis Fetal akinesia sequence Progressive neurologic deterioration Increased CSF protein Choreoathetosis Cholestasis Hepatic fibrosis Progressive spasticity Decreased liver function Cerebral visual impairment Progressive encephalopathy Intellectual disability, progressive Neuronal loss in central nervous system Abnormality of vision Slurred speech Encephalitis Akinesia Abnormality of visual evoked potentials Spastic diplegia Generalized-onset seizure Focal-onset seizure Epileptic encephalopathy Rigidity Blindness Vomiting Hypertonia Cerebral atrophy Encephalopathy Visual loss Delayed speech and language development Pneumonia Dementia Myoclonus Hyperactivity Respiratory failure Jaundice Elevated hepatic transaminase Memory impairment Abnormality of the eye Developmental regression Paralysis Abnormality of the liver Generalized tonic-clonic seizures Abnormality of movement Peripheral axonal neuropathy Cirrhosis Hepatic failure Neurodegeneration Coma Gliosis Brain atrophy Astrocytosis Gastrointestinal dysmotility Lower limb amyotrophy Bile duct proliferation Muscle fiber atrophy Poor suck Nasal speech Stridor Toe walking Bulbar palsy Spinal rigidity Weak cry Fatigable weakness Neck muscle weakness Central hypotonia Limb-girdle muscle weakness Distal lower limb muscle weakness Motor polyneuropathy Respiratory arrest Easy fatigability Spinal deformities Central sleep apnea EEG with polyspike wave complexes Staring gaze Sudden episodic apnea Nasal regurgitation Apneic episodes precipitated by illness, fatigue, stress Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Dysphonia EMG: myopathic abnormalities Microvesicular hepatic steatosis Gastroesophageal reflux Micronodular cirrhosis Gastric ulcer Multifocal seizures Cerebral degeneration Phonic tics Epilepsia partialis continua Ethylmalonic aciduria Cerebral cortical neurodegeneration Sensorineural hearing impairment Hyporeflexia Recurrent respiratory infections Pes cavus Polyhydramnios Difficulty walking Microretrognathia Proximal muscle weakness Joint laxity Pectus carinatum Arthrogryposis multiplex congenita Ophthalmoplegia Long face Distal amyotrophy Generalized muscle weakness Esotropia Cyanosis Decreased fetal movement Diplopia Congenital hip dislocation Chronic hepatitis Hyperammonemia Fever Hypopigmentation of the skin Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Broad femoral neck Small for gestational age Muscular hypotonia of the trunk Abnormality of the nervous system Hip dislocation Lower limb muscle weakness Sepsis Hypotelorism Nevus Sensory impairment Febrile seizures Spastic gait Cafe-au-lait spot Narrow face Horseshoe kidney Dystonia Abnormality of the genitourinary system Bowel incontinence Premature graying of hair Axonal degeneration Progressive spastic paraplegia Rhizomelia Astigmatism Progeroid facial appearance Oculomotor apraxia Depressed nasal bridge Abnormality of mitochondrial metabolism Ventriculomegaly Intellectual disability, severe Hernia Inguinal hernia Polydactyly Retinopathy Postaxial polydactyly Intestinal malrotation Short palpebral fissure Heterotopia Molar tooth sign on MRI Autism Hamartoma Teratoma Hamartoma of tongue Sacrococcygeal teratoma Cerebral palsy Lower limb spasticity Intention tremor Cleft palate Bradykinesia Urinary incontinence Myopia Dysmetria Micropenis Vitiligo White hair Hearing impairment Wide mouth Trichorrhexis nodosa Concave nail Tiger tail banding Hypertension Strabismus Respiratory insufficiency Cardiomyopathy Congestive heart failure Abnormality of cardiovascular system morphology Abnormal heart morphology Hypertrophic cardiomyopathy Camptodactyly Short philtrum Corneal neovascularization Prominent nasal bridge Pulmonic stenosis Scoliosis Deeply set eye Oligohydramnios Cardiomegaly Renal hypoplasia Aortic valve stenosis Cardiac arrest Spontaneous abortion Vertebral fusion Rocker bottom foot Severe lactic acidosis Hypoplasia of teeth Woolly hair Progressive spastic paraparesis Microphthalmia Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hyperpigmented nevi Hyperpigmentation in sun-exposed areas Premature graying of body hair Tremor Skeletal muscle atrophy Epicanthus Dysarthria Anteverted nares Short nose Agenesis of corpus callosum Keratoconjunctivitis sicca Hypogonadism Cerebral cortical atrophy Macrotia Sparse hair Ichthyosis Microcornea Small nail Hypergonadotropic hypogonadism Sparse eyelashes Macular degeneration Brittle hair Decreased fertility Partial agenesis of the corpus callosum Acetylcholine receptor antibody positivity



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