Ataxia, and Triangular face

Diseases related with Ataxia and Triangular face

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


Top matches:

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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Other less relevant matches:

Medium match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Medium match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Medium match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Medium 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

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Top 5 symptoms//phenotypes associated to Ataxia and Triangular face

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Seizures Long nose Long face Dysmetria Prominent forehead Short stature Microcephaly Cognitive impairment Low-set ears Mandibular prognathia Hypertelorism Gait ataxia Downslanted palpebral fissures Thin upper lip vermilion Cerebellar hypoplasia Hypotelorism Micropenis Cerebral cortical atrophy Neurological speech impairment Ventriculomegaly Peripheral neuropathy Pain Cryptorchidism Muscular hypotonia Renal hypoplasia Nystagmus Deeply set eye Short chin Failure to thrive Cerebellar atrophy Posteriorly rotated ears Joint laxity High forehead Prominent nasal bridge High palate

Rare Symptoms - Less than 30% cases


Epicanthus Cardiomyopathy Pigmentary retinopathy Kyphoscoliosis Abnormality of the skeletal system Long neck Malar flattening Renal insufficiency Recurrent infections Arrhythmia Diabetes mellitus Hearing impairment Sensorineural hearing impairment Hypertension Malabsorption Abnormality of the nervous system Cataract High pitched voice Progressive cerebellar ataxia Acidosis Delayed skeletal maturation Obesity Thrombocytopenia Splenomegaly Fever Hepatomegaly Anemia Apraxia Hypermetropia Broad nasal tip Scoliosis Coarctation of aorta Dysarthria Cholestatic liver disease Pulmonic stenosis Retinopathy Convex nasal ridge Abnormality of the liver Broad forehead Polyneuropathy Synophrys Growth delay Clinodactyly Abnormal heart morphology Delayed ability to walk Motor delay Macrocephaly Tremor Frontal bossing Broad-based gait Hyperactivity Macrotia Neonatal hypotonia Poor speech Attention deficit hyperactivity disorder Short philtrum Abnormal cardiac septum morphology Upslanted palpebral fissure Abnormal cerebellum morphology Long philtrum Areflexia Hypoplasia of the maxilla Blepharophimosis Poor coordination Hyperkalemia Exocrine pancreatic insufficiency Prolonged QT interval Posterior embryotoxon Toe syndactyly Agenesis of permanent teeth Renal tubular acidosis Slender long bone Abnormal heart valve morphology Hyperthyroidism Dark urine Wolff-Parkinson-White syndrome Paralysis Scaphocephaly Periodic paralysis Heart murmur Rickets Pointed chin Clinodactyly of the 5th finger Persistence of primary teeth Delayed eruption of permanent teeth Toe clinodactyly Clinodactyly of the 5th toe Periodic hypokalemic paresis Short mandibular rami Periodic hyperkalemic paralysis Pulmonary artery stenosis Loss of consciousness Syncope Small hand Short metacarpal Specific learning disability Delayed eruption of teeth Butterfly vertebrae Short foot Short palpebral fissure Tetraparesis Palpitations Hypoplasia of dental enamel Decreased body weight Short phalanx of finger Cardiac arrest Scapular winging Ventricular tachycardia Bicuspid aortic valve 2-3 toe syndactyly Oligodontia Ventricular arrhythmia Growth abnormality Peripheral pulmonary artery stenosis Short metatarsal Hypokalemia Bidirectional ventricular ectopy Inability to walk Short palm Myotonia Bulbous nose Tachycardia Preauricular pit Facial asymmetry Antegonial notching of mandible Misalignment of teeth Prominent frontal sinuses Lymphopenia Slurred speech Goiter Leukopenia Acanthosis nigricans Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Postural tremor Abnormal lung morphology Cutaneous photosensitivity Epidermal acanthosis Jaundice Sloping forehead Bradykinesia Dysdiadochokinesis Unilateral renal agenesis Depressivity Cerebellar vermis atrophy Chronic lung disease Low hanging columella Increased circulating gonadotropin level Glioma Abnormality of lipid metabolism Multinodular goiter Gastrointestinal stroma tumor Bilateral cryptorchidism Truncal obesity Ventricular septal defect Atrial septal defect Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Patent ductus arteriosus Proteinuria Scarring Prominent U wave Midface retrusion Severe short stature Pes cavus Babinski sign Inguinal hernia Hernia Tetralogy of Fallot Immunodeficiency Hypothyroidism Cholestasis Hypoplasia of the corpus callosum Gait disturbance Shuffling gait Renal dysplasia Neoplasm Increased body weight Hypogonadism Rigidity Stroke Hematuria Pruritus Cirrhosis Hepatic failure Limb undergrowth Decreased testicular size Renal agenesis Sensory neuropathy Postnatal growth retardation Falls Renal cyst Dilated cardiomyopathy Small for gestational age Abnormal pyramidal sign Cyanosis Sparse hair Intrauterine growth retardation Arthralgia Syndactyly Overgrowth Disproportionate tall stature Large hands Sparse eyebrow Tall stature Lumbar hyperlordosis High myopia Arachnodactyly Megalencephaly Hyperlordosis Difficulty walking Pes planus Proptosis Absent speech Kyphosis Long fingers Long foot Myopia Wide mouth High-frequency hearing impairment Gout Arnold-Chiari type I malformation Hyperuricemia Peripheral axonal neuropathy Abnormality of eye movement Arthritis Communicating hydrocephalus Pneumonia Hypertonia Severe expressive language delay Thick corpus callosum Expressive language delay Metopic synostosis Slender build Hydrocephalus Disorganization of the anterior cerebellar vermis Hyperuricosuria Sensory impairment Chronic constipation Syringomyelia Onion bulb formation Decreased number of peripheral myelinated nerve fibers Failure to thrive in infancy Decreased nerve conduction velocity Wide nose Spasticity Distal sensory impairment Unsteady gait Smooth philtrum Abnormality of the foot Constipation Feeding difficulties Demyelinating peripheral neuropathy Intellectual disability, severe Infra-orbital crease Focal impaired awareness seizure Retrocerebellar cyst Abnormality of the philtrum Microphallus Enlarged cisterna magna Poor eye contact External genital hypoplasia Prominent supraorbital ridges Dilatation Scrotal hypoplasia Intention tremor Cerebellar vermis hypoplasia Focal-onset seizure Prominent nose Intellectual disability, moderate Autism Abnormal aortic morphology Increased urinary hypoxanthine Congestive heart failure Blue sclerae Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Clumsiness Underdeveloped nasal alae Agenesis of cerebellar vermis Aciduria Nevus Metabolic acidosis Retinal dystrophy Lactic acidosis Lymphadenopathy Organic aciduria Extramedullary hematopoiesis Leukemia Micrognathia Abnormality of the dentition Respiratory distress Wide nasal bridge Brachydactyly Cleft palate Muscle weakness Normocytic hypoplastic anemia Normocytic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Dolichocephaly Skin rash Excessive purine production Vesicoureteral reflux Deep philtrum Poor head control Abnormality of the genitourinary system Stereotypy Decreased fetal movement Delayed myelination Downturned corners of mouth Myopathic facies Astigmatism Muscular hypotonia of the trunk Gastroesophageal reflux Anteverted nares Dysphagia Uric acid nephrolithiasis Abnormality of skeletal muscles Overfolded helix Inverted nipples Low-set, posteriorly rotated ears Diarrhea Elevated hepatic transaminase Hypoglycemia Hepatosplenomegaly Abdominal pain Elevated serum creatine phosphokinase Cerebral atrophy Vomiting Pain insensitivity Myopathy Edema Optic atrophy Broad chin Overfolding of the superior helices Horizontal eyebrow Oval face Axenfeld anomaly



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