Ataxia, and Pectus excavatum

Diseases related with Ataxia and Pectus excavatum

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


Top matches:

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match WAARDENBURG SYNDROME, TYPE 2E; WS2E


Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C


Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

Medium match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Medium match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Medium match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium 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

Top 5 symptoms//phenotypes associated to Ataxia and Pectus excavatum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Gait ataxia Motor delay Macrotia Skeletal muscle atrophy Dysarthria Muscle weakness Scoliosis Nystagmus Difficulty walking Short stature Abnormality of the foot Distal amyotrophy Distal sensory impairment Long face Intellectual disability, severe Hyporeflexia Hyperreflexia Delayed speech and language development Growth delay Pes cavus Severe global developmental delay Flexion contracture Dystonia Epicanthus High palate Urinary incontinence Sensorineural hearing impairment Distal muscle weakness Kyphoscoliosis Truncal ataxia Tremor Spasticity Feeding difficulties Visual impairment Absent speech Micrognathia

Rare Symptoms - Less than 30% cases


Ventriculomegaly Spastic paraplegia Inability to walk Neonatal hypotonia Thin upper lip vermilion Hypoplasia of the corpus callosum Open mouth Myopathic facies Hypothyroidism Abnormality of eye movement Tetraparesis Respiratory distress Respiratory insufficiency Type I diabetes mellitus Down-sloping shoulders Increased serum lactate Unsteady gait Feeding difficulties in infancy Clonus Narrow face Intellectual disability, progressive Drooling Thick eyebrow Bowel incontinence Poor speech Mandibular prognathia Involuntary movements Intellectual disability, mild Downslanted palpebral fissures Upslanted palpebral fissure Pes planus Delayed skeletal maturation Dysmetria Poor coordination Spastic tetraplegia Strabismus Dysphagia Hypertonia Muscular hypotonia of the trunk Broad-based gait Bilateral sensorineural hearing impairment Sensory impairment Sensory neuropathy Clinodactyly Brachydactyly CNS hypomyelination Abnormality of movement Kyphosis Gait disturbance Optic atrophy Areflexia Abnormality of the nervous system Dilatation Blue sclerae Rotary nystagmus Autism Hyperacusis Aplasia of the 1st metacarpal Myopathy Pallor Elevated serum creatine phosphokinase Pectus carinatum Cerebellar hypoplasia Syndactyly Increased variability in muscle fiber diameter Myalgia Anxiety Depressivity Gowers sign Retinopathy Joint laxity Dysdiadochokinesis Falls Schizophrenia Small hand Amenorrhea Pigmentary retinopathy Mild global developmental delay Intention tremor Primary amenorrhea Limb ataxia Frequent falls Obsessive-compulsive trait Low anterior hairline Abnormality of finger Behavioral abnormality Toe syndactyly High forehead Hyperactivity Recurrent infections Long philtrum Short nose Abnormality of the skeletal system Abnormal cardiac septum morphology Chorea Loss of ability to walk in first decade Photosensitive tonic-clonic seizures Conspicuously happy disposition Inappropriate laughter Happy demeanor Aggressive behavior Attention deficit hyperactivity disorder Ventricular extrasystoles Dental crowding Absent radius 2-3 toe syndactyly Obsessive-compulsive behavior Abnormality of the hand Hyperthyroidism Short phalanx of finger Syncope Broad forehead Hypodontia Tapered finger Thick vermilion border Short distal phalanx of finger Facial asymmetry Synophrys Multiple lipomas Premature graying of hair Mitochondrial myopathy Tetraplegia Leukodystrophy Choreoathetosis Interphalangeal joint contracture of finger Narrow forehead Cerebral calcification Generalized muscle weakness Paraplegia Muscle stiffness Camptodactyly of finger Joint stiffness Protruding ear Abnormality of the pinna Irritability Proptosis Babinski sign Bilateral single transverse palmar creases Poor head control Ptosis Abnormality of the neck Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Hypoplasia of the musculature Delayed CNS myelination Macroorchidism Athetosis Hypoplasia of the zygomatic bone Central hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Generalized amyotrophy Aphasia Hallux valgus Malar flattening Muscular hypotonia Prolactin excess Hyperlordosis Delayed myelination Full cheeks Downturned corners of mouth Delayed puberty Small for gestational age Sparse hair Narrow mouth Hypotelorism Diabetes mellitus Intrauterine growth retardation Cryptorchidism Enlarged interhemispheric fissure Speech articulation difficulties Dyslexia Thick hair Round face Renal hypoplasia Abnormal facial shape High pitched voice Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Ketoacidosis Brisk reflexes Fine hair Polyuria Hyperglycemia Hypoplasia of the brainstem Polydipsia Oligodontia Cleft palate Abnormal vertebral morphology Abnormality of the nose Cachexia Atrophy/Degeneration affecting the brainstem Hammertoe Hand muscle weakness Vocal cord paralysis Delayed eruption of teeth Obstructive sleep apnea Wheezing Urinary urgency Stridor Inspiratory stridor Spinal muscular atrophy Dysphonia Sleep apnea Knee flexion contracture Congenital hip dislocation Foot dorsiflexor weakness Oculomotor nerve palsy Progressive peripheral neuropathy Sensorimotor neuropathy Bilateral vocal cord paresis Cerebral atrophy Vomiting Telecanthus Anemia Failure to thrive Hypertelorism Decreased distal sensory nerve action potential Abducens palsy Intercostal muscle weakness Bilateral vocal cord paralysis Hand muscle atrophy Vocal cord paresis Diaphragmatic weakness Shoulder girdle muscle atrophy Hoarse voice Hypopigmentation of the skin Acidosis White forelock Aplasia of the semicircular canal Hypoplasia of the semicircular canal White eyebrow White eyelashes Cerebral hypomyelination Hypopigmentation of the fundus White hair Albinism Generalized hypopigmentation Misalignment of teeth Heterochromia iridis Blue irides Ocular albinism Hypoplasia of the iris Dilated vestibule of the inner ear Congenital sensorineural hearing impairment Polyneuropathy Skeletal dysplasia Peripheral axonal neuropathy Limb muscle weakness Dolichocephaly Hip dislocation Paralysis Apnea Respiratory failure Anosmia Aganglionic megacolon Cafe-au-lait spot Hypopigmented skin patches Talipes equinovarus Fatigue Peripheral neuropathy Agenesis of corpus callosum Abnormality of the dentition Slender finger Narrow chest Generalized-onset seizure Neuronal loss in central nervous system Epileptic encephalopathy Sleep disturbance Joint hyperflexibility Peripheral demyelination Ophthalmoplegia Visual loss Arthrogryposis multiplex congenita Developmental regression Abnormality of the eye Deeply set eye Short thumb Gastroesophageal reflux Intellectual disability, profound Decreased body weight Cerebral cortical atrophy Severe sensorineural hearing impairment Long nose Dysphasia Cerebral visual impairment Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Adducted thumb Postnatal microcephaly Hyperkinesis Mutism Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Ankyloglossia Stereotypy Joint contracture of the hand Encephalopathy Wide nasal bridge Abnormality of peripheral nerve conduction Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Trigonocephaly Progressive neurologic deterioration Ulnar deviation of the hand Coma Excessive daytime somnolence Metabolic acidosis Hemolytic anemia Lactic acidosis Positive Romberg sign Distal upper limb amyotrophy Cognitive impairment Lipoma Corpus callosum atrophy Paraparesis Thoracic scoliosis Cerebellar atrophy Language impairment Skeletal muscle hypertrophy Progressive sensorineural hearing impairment Impaired pain sensation Pain Poor gross motor coordination Severe lactic acidosis Projectile vomiting Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Increased serum pyruvate Poor fine motor coordination Underfolded superior helices



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Cough, related diseases and genetic alterations Intrauterine growth retardation and Toe syndactyly, related diseases and genetic alterations Low-set ears and Hypotrichosis, related diseases and genetic alterations Cardiomyopathy and Inguinal hernia, related diseases and genetic alterations Muscle weakness and Thin skin, related diseases and genetic alterations Sensorineural hearing impairment and Primary amenorrhea, related diseases and genetic alterations

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