Ataxia, and Microtia

Diseases related with Ataxia and Microtia

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


Top matches:

Low match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match WOLF-HIRSCHHORN SYNDROME


Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Low match PENDRED SYNDROME


Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

Low match BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME


This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Abnormality of the pinna
  • Microtia
  • Abnormality of the outer ear


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME

Low match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Low match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Microtia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Strabismus Sensorineural hearing impairment Cryptorchidism Low-set ears Failure to thrive Muscular hypotonia Constipation Micrognathia Motor delay Wide nasal bridge Hypertelorism Generalized hypotonia Microcephaly Short stature Ptosis Malar flattening Epicanthus Intellectual disability, severe Frontal bossing Myopia Clinodactyly Areflexia Hyperactivity Short palm Behavioral abnormality Hypospadias Abnormality of cardiovascular system morphology Thin upper lip vermilion Abnormal heart morphology Cataract Feeding difficulties Intrauterine growth retardation Conductive hearing impairment Nystagmus Mandibular prognathia

Rare Symptoms - Less than 30% cases


Autism Autistic behavior High forehead Postnatal growth retardation Aggressive behavior EEG abnormality Abnormality of the outer ear Gastroesophageal reflux Abnormality of the kidney Short attention span Underdeveloped nasal alae Inguinal hernia Brachycephaly Clinodactyly of the 5th finger Self-injurious behavior Cupped ear Abnormal cardiac septum morphology Wide mouth Hypermetropia Generalized hirsutism Esotropia Low anterior hairline Stereotypy Deeply set eye Thin vermilion border Oral cleft Abnormality of the cardiovascular system Recurrent respiratory infections Hypogonadism Abnormality of the thyroid gland Synophrys Sleep disturbance Talipes equinovarus Highly arched eyebrow Small hand Downturned corners of mouth Prominent nasal bridge Thick eyebrow Bulbous nose Astigmatism Scoliosis Telecanthus Short nose Tracheal stenosis Abnormality of the pinna Abnormality of the urinary system Lethargy Small for gestational age Brachydactyly Hypertension Feeding difficulties in infancy Hypothyroidism Chronic constipation High palate Hepatosplenomegaly Dry skin Peripheral neuropathy Abnormal lip morphology Anteverted nares Everted lower lip vermilion Abnormal facial shape Hypoplasia of the cochlea Abnormality of the immune system Pes cavus Hyporeflexia Abnormality of metabolism/homeostasis Ectropion Sacral dimple Abnormality of the skin Abnormal vertebral morphology Obesity Midface retrusion Cleft lip Decreased fetal movement Delayed speech and language development Short neck Respiratory insufficiency Delayed eruption of teeth Hepatomegaly Abnormality of the genital system Short philtrum Nephropathy Hyperacusis Vertigo Frequent temper tantrums Neurological speech impairment Carcinoma Mood changes Abnormality of upper lip Recurrent aspiration pneumonia Premature atrial contractions Pelvic kidney Midline brain calcifications Head-banging Morphological abnormality of the middle ear Everted upper lip vermilion Velopharyngeal insufficiency Abnormal tracheobronchial morphology Excessive daytime sleepiness Abnormality of the forearm Sleep-wake inversion Dilatation Poor suck Recurrent ear infections Anxiety Otitis media Full cheeks Macroglossia Microcornea Single transverse palmar crease Retinal detachment Falls Paresthesia Paralysis Hyperlordosis Intellectual disability, moderate Pes planus Broad-based gait Polyhydramnios Cerebral cortical atrophy Upslanted palpebral fissure Prominent forehead Posteriorly rotated ears Abnormality of the dentition Edema Hypoplasia of the corpus callosum Ventriculomegaly Pain Hypoplasia of eyelid Gingival cleft Hypertriglyceridemia Omphalocele Cavum septum pellucidum Impaired pain sensation Abnormal renal morphology Deep palmar crease Abnormality of the larynx Broad face Thick upper lip vermilion Duodenal atresia Bruxism Self-mutilation Overweight Drowsiness Protruding tongue Broad palm Pachygyria Progressive spastic paraplegia Open bite Impulsivity Progressive hearing impairment Drooling Hypercholesterolemia Lissencephaly Increased body weight Hoarse voice Sinusitis Hypoplasia of dental enamel Heterotopia Bilateral sensorineural hearing impairment Hypopigmentation of the skin Goiter Hypoplasia of the semicircular canal Microdontia Dental malocclusion Ectodermal dysplasia Triangular face High, narrow palate Hirsutism Rigidity Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Myelin outfoldings Depressed nasal ridge Neonatal asphyxia Meconium ileus Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction Hypertrichosis Abnormality of the face White forelock Taurodontia Ablepharon Frontal hirsutism Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Broad alveolar ridges Breast aplasia Sparse or absent eyelashes Gingival fibromatosis Absent nipple Skin tags Inverted nipples Sparse and thin eyebrow Shawl scrotum Hypoplastic nipples Aplasia/Hypoplasia of the skin Long nose Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Redundant skin Atresia of the external auditory canal Dermal atrophy Hyperextensible skin Cutis laxa Ileus Demyelinating peripheral neuropathy Congenital sensorineural hearing impairment Overfolded helix Abnormality of the nervous system Neonatal hypotonia Abdominal pain Myoclonus Arrhythmia Splenomegaly Spasticity Underdeveloped antitragus Profound hearing impairment Facial paralysis Mixed hearing impairment Thyroid nodule Abnormal pyramidal sign Enlarged vestibular aqueduct Euthyroid goiter Unilateral deafness Compensated hypothyroidism Cochlear malformation Abnormality of the inner ear Metabolic alkalosis Thyroid carcinoma Alkalosis Hyperparathyroidism Vestibular dysfunction Distal muscle weakness Arthrogryposis multiplex congenita White hair Hypopigmented skin patches Heterochromia iridis Blue irides Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Premature graying of hair Intestinal obstruction Portal hypertension Decreased nerve conduction velocity CNS hypomyelination Anosmia Torticollis Distal amyotrophy Spastic paraparesis Abnormal autonomic nervous system physiology Leukodystrophy Hypohidrosis Aganglionic megacolon Spastic tetraplegia Peripheral demyelination Tetraplegia Coma Laryngotracheal stenosis Distal sensory impairment Enlarged vertebral pedicles Short palpebral fissure Generalized muscle hypertrophy Absence seizures Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Polyphagia Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Widely spaced teeth Sandal gap Short chin Optic atrophy Finger clinodactyly Dental crowding Open mouth Hypoplasia of penis Epileptic encephalopathy Hip dysplasia Febrile seizures Focal-onset seizure Prominent nose Short foot Abnormality of lower lip Downslanted palpebral fissures Broad forehead Arachnodactyly Abnormality of the thorax Hemangioma Short thumb Abnormal form of the vertebral bodies Split hand Low posterior hairline Congenital diaphragmatic hernia Hypodontia Iris coloboma Cleft upper lip Abnormality of movement Atrial septal defect Abnormality of the foot Dolichocephaly Retinopathy Low-set, posteriorly rotated ears Proptosis Osteoporosis Agenesis of corpus callosum Delayed skeletal maturation Hernia Kyphosis Facial asymmetry Protruding ear Aplasia/Hypoplasia of the cerebellum Subcapsular cataract Neutropenia Skin rash Developmental regression Arthritis Acidosis Thrombocytopenia Anemia Generalized ichthyosis Decreased plasma carnitine Congenital nonbullous ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Pancytopenia Congenital ichthyosiform erythroderma Erythroderma Scaling skin Aortic regurgitation Hepatic steatosis Ichthyosis Muscular dystrophy Alopecia Myopathy Muscle weakness Aciduria Psychosis Coarse facial features Megaloblastic bone marrow Retrognathia Gait ataxia Encephalopathy Vomiting Fever Visual impairment Cystathioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Incoordination Hyperhomocystinemia Glossitis Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Stomatitis Juvenile rheumatoid arthritis Megaloblastic anemia Macrocytic anemia Rheumatoid arthritis Chronic otitis media Preaxial hand polydactyly Abnormality of the pubic bone Oral-pharyngeal dysphagia High hypermetropia Vertebral fusion Short finger Pericardial effusion External genital hypoplasia Blurred vision 2-3 toe syndactyly Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Stridor Thickened calvaria Cone-shaped epiphysis Abnormality of the voice Precocious puberty Short long bone Narrow palpebral fissure EMG abnormality Aortic valve stenosis Short toe Abnormality of epiphysis morphology Thickened skin Abnormal joint morphology Keratoconus Abnormal lung morphology Femoral hernia Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Peptic ulcer Arthropathy Constrictive median neuropathy Craniofacial hyperostosis Restrictive cardiomyopathy Broad ribs Hypoplastic iliac wing Oligomenorrhea Irregular vertebral endplates Submucous cleft hard palate Wheezing Pericarditis Abnormality of the metaphysis Choanal atresia Disproportionate tall stature Aplasia/Hypoplasia of the nipples Ventricular septal defect Abnormality of the skeletal system Macrocephaly Flexion contracture Hypoplastic pubic rami Rib segmentation abnormalities Abnormality of the gallbladder Abnormality of the philtrum Tethered cord Aplasia cutis congenita of scalp Abdominal situs inversus Cardiomyopathy Rib fusion Short hallux High anterior hairline Calvarial skull defect Sclerocornea Aplasia/Hypoplasia of the lungs Abnormality of the mouth Megalocornea Abnormality of the vertebral column Abnormal heart valve morphology Respiratory distress Cerebellar atrophy Fine hair Scarring Abnormality of the ribs Coarctation of aorta Specific learning disability Amenorrhea Limitation of joint mobility Bifid uvula Progressive cerebellar ataxia Hypoplasia of the maxilla Platyspondyly Cough Blepharophimosis Syndactyly Sparse hair Joint stiffness Respiratory tract infection Camptodactyly Narrow mouth Respiratory failure Severe short stature Patent ductus arteriosus Recurrent infections Microphthalmia Abnormality of male external genitalia



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 Congenital cataract, related diseases and genetic alterations Intrauterine growth retardation and Joint hypermobility, related diseases and genetic alterations Brachydactyly and Smooth philtrum, related diseases and genetic alterations Myopathy and Hyperreflexia, related diseases and genetic alterations Strabismus and Dementia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more