Ataxia, and Severe short stature

Diseases related with Ataxia and Severe short stature

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

Top matches:

Medium match MPDU1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Other less relevant matches:

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Medium match GALACTOSIALIDOSIS

Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Severe short stature

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Ataxia and Severe short stature. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Cerebellar atrophy Intellectual disability Pigmentary retinopathy Failure to thrive Sensorineural hearing impairment Spasticity Hypogonadism Generalized hypotonia Growth delay Global developmental delay Muscle weakness Myopathy Peripheral neuropathy Retinopathy Cutaneous photosensitivity Cataract Progressive cerebellar ataxia Hyporeflexia Dysphagia Myoclonus Ptosis Cerebral atrophy Muscular hypotonia Hypertonia Visual impairment Flexion contracture

Rare Symptoms - Less than 30% cases

Vertigo Skeletal muscle atrophy Scoliosis Dermal atrophy Blindness Cardiomyopathy Basal ganglia calcification Areflexia Deeply set eye Abnormality of the nervous system Mental deterioration Progressive neurologic deterioration Elevated serum creatine phosphokinase Ascites Feeding difficulties Cerebellar hypoplasia Absent speech Titubation Cardiomegaly Muscular dystrophy Rod-cone dystrophy Gait ataxia Hypothyroidism Strabismus Growth hormone deficiency Anemia Telangiectasia Retinal degeneration Pneumonia Dry skin Inability to walk Acidosis Lactic acidosis Developmental regression Arrhythmia Congestive heart failure External ophthalmoplegia Leukodystrophy Ophthalmoplegia Dementia Ragged-red muscle fibers Dysarthria Visual loss Dystonia Motor delay Hyperreflexia Dilated cardiomyopathy Ventriculomegaly Intellectual disability, severe Leukoencephalopathy Preeclampsia Abnormality of retinal pigmentation Reduced tendon reflexes Ventricular arrhythmia Left ventricular hypertrophy EMG abnormality Hemiplegia/hemiparesis Atrioventricular block Incoordination Nasal speech Bilateral ptosis Abnormality of mitochondrial metabolism Ophthalmoparesis Adrenal insufficiency Bundle branch block Ketosis Renal tubular acidosis Primary adrenal insufficiency Exocrine pancreatic insufficiency Progressive external ophthalmoplegia Hypoparathyroidism Ventricular hypertrophy Limb muscle weakness Cerebral calcification Oral-pharyngeal dysphagia Hemolytic-uremic syndrome Increased CSF protein Increased intramyocellular lipid droplets Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Easy fatigability Stress/infection-induced lactic acidosis Paraganglioma Pain Fatigue Memory impairment Depressivity Encephalopathy Delayed skeletal maturation Left ventricular noncompaction Diabetes mellitus Reduced visual acuity Paralysis Nyctalopia Ketonuria Sensory neuropathy Muscle cramps Syncope Rhabdomyolysis Cerebral cortical atrophy Mitochondrial myopathy Hypergonadotropic hypogonadism Abnormality of the metacarpal bones Infantile muscular hypotonia Sandal gap Type I diabetes mellitus Coxa valga Muscle stiffness Sensorimotor neuropathy Short metatarsal Short thumb Limb ataxia Progressive muscle weakness Hypertrichosis Specific learning disability Hip dysplasia Decreased antibody level in blood Dysphonia Cubitus valgus Microcornea Muscle fiber necrosis Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Autophagic vacuoles Congenital muscular dystrophy Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Myopathic facies Short metacarpal Dyskinesia Heart block Sideroblastic anemia Second degree atrioventricular block Third degree atrioventricular block Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Renal Fanconi syndrome First degree atrioventricular block Muscle fiber atrophy Low CSF 5-methyltetrahydrofolate Abnormality of the mitochondrion Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Hypomagnesemia Hyperaldosteronism Progressive intervertebral space narrowing Abnormal facial shape Short palm Rigidity Smooth philtrum Synophrys Congenital cataract Hip dislocation Neurological speech impairment Pectus carinatum Intellectual disability, moderate Pes planus High palate Kyphoscoliosis Congenital hip dislocation Recurrent infections Kyphosis Abnormality of the skeletal system Brachydactyly Epicanthus Exercise intolerance Spondyloepiphyseal dysplasia Mitral regurgitation Distal muscle weakness Acute lymphoblastic leukemia Poikiloderma Olivopontocerebellar atrophy Entropion Defective DNA repair after ultraviolet radiation damage Gonadal hypoplasia Cryptorchidism Frontal bossing Obesity Alopecia Micropenis Hypoglycemia Pallor Sparse hair Small for gestational age Ectropion Spastic paraplegia Delayed puberty Paraplegia Peripheral axonal neuropathy Distal amyotrophy Thick eyebrow Hypoplasia of penis Sparse scalp hair Clumsiness Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Keratitis Melanoma Retinal atrophy Progressive visual loss Hyperkeratosis Apnea Abnormality of the eye Severe global developmental delay Ichthyosis Abnormality of vision Scaling skin Erythroderma Abnormality of the coagulation cascade Tremor Hypoplasia of the corpus callosum Abnormal pyramidal sign Hypermetropia Abnormal cerebellum morphology Intention tremor Conjunctivitis Squamous cell carcinoma of the skin Choreoathetosis Leukemia Photophobia Increased cellular sensitivity to UV light Abnormal CNS myelination Cutaneous melanoma Progeroid facial appearance Amblyopia Freckling Basal cell carcinoma Decreased nerve conduction velocity Abnormality of the cardiovascular system Microphthalmia Athetosis Chorioretinal atrophy Progressive gait ataxia Spastic tetraplegia Angiokeratoma Hydrops fetalis Abnormal vertebral morphology Opacification of the corneal stroma Aortic regurgitation Hemangioma Abnormality of the vertebral column Dysostosis multiplex Nonimmune hydrops fetalis Foam cells Visceromegaly Hemophagocytosis Conjunctival telangiectasia Vacuolated lymphocytes Mucopolysacchariduria Arthralgia of the hip Abnormality of the kidney Cherry red spot of the macula Decreased beta-galactosidase activity Vomiting Diarrhea Babinski sign Respiratory failure Neonatal hypotonia Proximal muscle weakness Hypertrophic cardiomyopathy Respiratory tract infection Tetraplegia Generalized muscle weakness Generalized myoclonic seizures Increased serum lactate Corneal opacity Hepatosplenomegaly Recurrent hypoglycemia Narrow face Alopecia areata Choroideremia Long eyebrows Central heterochromia Neoplasm Hypertension Respiratory distress Intellectual disability, mild Renal insufficiency Weight loss Elevated hepatic transaminase Proteinuria Carious teeth Hypoplasia of dental enamel Neoplasm of the skin Arthralgia Depressed nasal bridge Coarse facial features Skeletal dysplasia Inguinal hernia Hernia Thrombocytopenia Edema Lack of subcutaneous fatty tissue Cachexia Bird-like facies Absence of subcutaneous fat Poor coordination Prematurely aged appearance High pitched voice Prominent supraorbital ridges Abnormal aldolase level


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthrogryposis multiplex congenita, related diseases and genetic alterations Melanoma and Muscle cramps, related diseases and genetic alterations Brachydactyly and Prominent forehead, related diseases and genetic alterations Tremor and Lymphedema, related diseases and genetic alterations Cognitive impairment and Long philtrum, related diseases and genetic alterations