Ataxia, and Hirsutism

Diseases related with Ataxia and Hirsutism

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


Top matches:

Low match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME


SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


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

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Other less relevant matches:

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Low match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Low match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE


Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hearing impairment Cognitive impairment Absent speech Strabismus Hypertonia Delayed speech and language development Low anterior hairline Spasticity Thick vermilion border Epicanthus Short stature Cerebellar atrophy Cerebellar hypoplasia EEG abnormality Generalized hirsutism Synophrys Microcephaly

Rare Symptoms - Less than 30% cases


Thick eyebrow Tremor Cerebellar vermis hypoplasia Hypertension Thick lower lip vermilion Downslanted palpebral fissures Hepatomegaly Deep philtrum Sleep disturbance Hepatic steatosis Abnormal facial shape Macrocephaly Abnormality of the dentition Bulbous nose Mental deterioration Hypoplasia of the corpus callosum Cerebral atrophy Hyperactivity Deeply set eye Sparse hair Mandibular prognathia Dysmetria Inability to walk Low-set ears Low posterior hairline Abnormal pyramidal sign Behavioral abnormality Hydrocephalus Cerebral cortical atrophy Ventriculomegaly Gait ataxia Encephalopathy Dystonia Hyperreflexia Growth delay Corneal opacity Flat acetabular roof Progressive neurologic deterioration Joint stiffness Split hand Limb ataxia Irregular vertebral endplates Pneumonia Dementia Splenomegaly Spondyloepimetaphyseal dysplasia Small epiphyses Irregular epiphyses Carpal bone hypoplasia Narrow iliac wings Diarrhea Small basal ganglia Long fibula Metaphyseal striations Posterior scalloping of vertebral bodies Confusion Short femoral neck Nystagmus Chorioretinal coloboma Melanocytic nevus Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Spinal cord compression Meningioma Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Muscular hypotonia Flared metaphysis Growth abnormality Spondyloepiphyseal dysplasia Metaphyseal irregularity Infantile muscular hypotonia Abnormality of the skin Wide nose Flat face Platyspondyly Abnormality of the skeletal system Abnormality of the pinna Joint laxity Skeletal dysplasia Brachycephaly Prominent forehead Short neck Recurrent upper respiratory tract infections Arthritis Coarse hair Biliary tract abnormality Unilateral renal agenesis Glucose intolerance Hypoplasia of the uterus Glycosuria Glomerulopathy Hyperuricemia Acute kidney injury Proportionate short stature Renal cell carcinoma Exocrine pancreatic insufficiency Gout Elevated serum creatinine Bicornuate uterus Maturity-onset diabetes of the young Ureteropelvic junction obstruction Pyloric stenosis Pancreatic hypoplasia Uterus didelphys Renal Fanconi syndrome Reduced sperm motility Renal cortical cysts Multiple glomerular cysts Absent vas deferens Epididymal cyst Papillary cystadenoma of the epididymis Decreased numbers of nephrons Aplasia/Hypoplasia of the pancreas Abnormality of exocrine pancreas physiology Abnormality of endocrine pancreas physiology Atretic vas deferens Polydipsia Chronic kidney disease Thickened calvaria Elevated hepatic transaminase Restlessness Dysostosis multiplex Asymmetric septal hypertrophy Visceromegaly Heparan sulfate excretion in urine Central nervous system degeneration Thickened ribs Ovoid thoracolumbar vertebrae Dense calvaria Renal insufficiency Hypospadias Diabetes mellitus Hypothyroidism Jaundice Encephalitis Spastic paraparesis Renal agenesis Multicystic kidney dysplasia Paraparesis Horseshoe kidney Nephrolithiasis Renal dysplasia Renal hypoplasia Renal cyst Proteinuria Nephropathy Stage 5 chronic kidney disease Joint hyperflexibility Infertility Abnormality of the liver Abnormality of the kidney Intracranial hemorrhage Insulin resistance Increased intracranial pressure Peritonitis Nonprogressive cerebellar ataxia Upper eyelid edema Macrotia Kyphoscoliosis Wide mouth Delayed eruption of teeth Overgrowth Hypertrichosis Depressed nasal ridge Gingival overgrowth Widely spaced teeth Relative macrocephaly Gingival fibromatosis Limb hypertonia Wide nasal base Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Congenital, generalized hypertrichosis Sensorineural hearing impairment Dysarthria Kyphosis Hyporeflexia Micropenis Short palm Small hand Short foot Congenital microcephaly Palpebral edema Intention tremor Mild microcephaly Hypertelorism Short nose Syndactyly Clinodactyly Upslanted palpebral fissure Muscular hypotonia of the trunk Hypermetropia Epileptic encephalopathy Apraxia Narrow palpebral fissure Oculomotor apraxia Poor head control Abnormality of finger Thick hair Partial agenesis of the corpus callosum Anteverted ears Anteverted nares Agenesis of corpus callosum Posteriorly rotated ears Low-set, posteriorly rotated ears Protruding ear Poor speech Everted lower lip vermilion Highly arched eyebrow Abnormal cerebellum morphology Narrow forehead Long eyelashes Aplasia/Hypoplasia of the corpus callosum Brain atrophy Heterotopia Melanoma Progressive psychomotor deterioration Neuronal loss in central nervous system Status epilepticus Tetraparesis Hypertriglyceridemia Acanthosis nigricans Lipodystrophy Hyperinsulinemia Brisk reflexes Reduced subcutaneous adipose tissue Limb dystonia Loss of speech Progressive encephalopathy Generalized lipodystrophy Caudate atrophy Respiratory tract infection Poor motor coordination Reduced intraabdominal adipose tissue Neoplasm Abnormality of the nervous system Nevus Dandy-Walker malformation Hemiparesis Thickened skin Abnormality of retinal pigmentation Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Arnold-Chiari malformation Cirrhosis Developmental regression Truncal ataxia Frontal bossing Intellectual disability, progressive Lissencephaly Dysdiadochokinesis Global brain atrophy Cortical dysplasia Thoracic scoliosis Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Feeding difficulties Motor delay Wide nasal bridge Recurrent infections Respiratory failure Rod-cone dystrophy Polydactyly Feeding difficulties in infancy Polymicrogyria Postaxial polydactyly Intellectual disability, profound Encephalocele Molar tooth sign on MRI Enlarged cisterna magna Infra-orbital crease Respiratory insufficiency Myopathy Myoclonus Abnormality of alkaline phosphatase activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Spastic paraplegia, related diseases and genetic alterations Hyperreflexia and Bipolar affective disorder, related diseases and genetic alterations Hyperreflexia and Cirrhosis, related diseases and genetic alterations Delayed speech and language development and Stereotypy, related diseases and genetic alterations Muscular hypotonia and Elevated serum creatine phosphokinase, related diseases and genetic alterations

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