Ataxia, and Choanal atresia

Diseases related with Ataxia and Choanal atresia

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


Top matches:

Low match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1


Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

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 FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match MARSHALL-SMITH SYNDROME


Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6


MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Top 5 symptoms//phenotypes associated to Ataxia and Choanal atresia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormality of the skeletal system

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Hypospadias Small for gestational age Cryptorchidism Abnormal facial shape Strabismus Seizures Cleft palate Conductive hearing impairment Growth delay High palate Hypertension Prominent nasal bridge Recurrent urinary tract infections Hyperactivity Depressed nasal bridge Ptosis Neoplasm Generalized hypotonia Atrial septal defect Scoliosis Cataract Patent ductus arteriosus Cerebral atrophy Nystagmus Wide nasal bridge Telecanthus Anteverted nares Hypoplasia of the corpus callosum Abnormal heart morphology Microphthalmia Hypogonadism Glaucoma Thick eyebrow Failure to thrive Intellectual disability, moderate Sloping forehead Astigmatism Polymicrogyria Microcornea Anal atresia Respiratory distress Agenesis of corpus callosum Retrognathia Pneumonia Behavioral abnormality Thrombocytopenia Short neck Clinodactyly of the 5th finger Muscle weakness Low-set ears Abnormality of cardiovascular system morphology Kyphosis Ventriculomegaly Autistic behavior Frontal bossing Severe short stature Reduced bone mineral density Autism Short philtrum Thin upper lip vermilion Umbilical hernia Mandibular prognathia Inguinal hernia Hernia Hydrocephalus Postnatal growth retardation Abnormality of the dentition Pes planus Abnormal cardiac septum morphology Proptosis

Rare Symptoms - Less than 30% cases


Respiratory failure Otitis media Feeding difficulties Lymphoma Cleft upper lip Poor appetite Leukemia Midface retrusion Abnormality of chromosome stability Narrow mouth Upslanted palpebral fissure Macrocephaly Recurrent respiratory infections Motor delay Hypoplasia of the maxilla Growth hormone deficiency Respiratory insufficiency Microdontia 2-3 toe syndactyly Blue sclerae Peters anomaly Sensorineural hearing impairment Increased body weight Malar flattening Amenorrhea Optic atrophy Hirsutism Thin vermilion border Respiratory tract infection Syndactyly Hearing abnormality Camptodactyly Intellectual disability, severe Incoordination Short sternum Anal stenosis Clinodactyly Synophrys Abnormal eyelid morphology Craniosynostosis Deep philtrum Short palpebral fissure Ventricular septal defect Megalocornea Prominent forehead Cafe-au-lait spot Telangiectasia Flexion contracture B-cell lymphoma Low anterior hairline Cardiomyopathy Hypertonia Spasticity Bruising susceptibility Vertigo Cone-shaped epiphysis Blindness Esophageal stenosis Toe syndactyly Hip dislocation Ectopic kidney Hypopigmentation of the skin Hypertrophic cardiomyopathy Attention deficit hyperactivity disorder Abnormality of the face Anemia Macrotia High forehead Hypothyroidism Visual impairment Headache Fatigue Fever Diabetes mellitus Visual loss Short toe Type I diabetes mellitus Cerebellar atrophy Aniridia Hydronephrosis Dandy-Walker malformation Sparse hair Finger syndactyly Renal insufficiency Hypoplasia of the iris Facial asymmetry Dystonia Proteinuria Hypodontia Epicanthus Abnormality of the urinary system Brachydactyly Tremor Hypopigmented skin patches Acute myeloid leukemia Omphalocele Abnormality of blood and blood-forming tissues Renal hypoplasia/aplasia Cranial nerve paralysis Pulmonary arterial hypertension Open mouth Azoospermia Bowing of the long bones Thin skin Hyperinsulinemia Pachygyria Squamous cell carcinoma Myelodysplasia Triphalangeal thumb Tracheoesophageal fistula Glucose intolerance Abnormality of vision Hypoplasia of the ulna Generalized hirsutism Decreased body weight Hydroureter Gingival overgrowth Absent thumb Tall stature Myeloid leukemia Accelerated skeletal maturation Multiple cafe-au-lait spots Aplasia/Hypoplasia of the iris Recurrent fractures Absent radius Meckel diverticulum Abnormal aortic valve morphology Abnormal renal morphology Abnormal localization of kidney Reticulocytopenia Abnormal aortic morphology Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Abnormality of nervous system morphology Primary hypothyroidism Duodenal stenosis Duplicated collecting system Deficient excision of UV-induced pyrimidine dimers in DNA Acute monocytic leukemia Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Abnormality of the hypothalamus-pituitary axis Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the radius Cerebellar hypoplasia Overgrowth Aciduria Complete duplication of thumb phalanx Short distal phalanx of finger Joint hyperflexibility Apnea Irregular hyperpigmentation Osteopenia Kyphoscoliosis External ear malformation Chromosome breakage Pectus excavatum Pyridoxine-responsive sideroblastic anemia Abnormality of the ulna Short nose Arteriovenous malformation Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the testis Muscular hypotonia Abnormality of the preputium Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Low-grade fever Vomiting Sleep apnea Hiatus hernia Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Ectrodactyly Curly eyelashes Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Absent hand Hypoplastic male external genitalia Hypoplasia of the radius Cortical gyral simplification Focal impaired awareness seizure Cerebral visual impairment Status epilepticus Hypsarrhythmia Chorea Dyskinesia Developmental regression EEG abnormality Encephalopathy Abnormal neuron morphology Abnormality of the cerebral cortex Abnormality of the cerebrum Small cerebral cortex Profound global developmental delay Neuronal loss in central nervous system Hypertropia Abnormality of the umbilicus Left-to-right shunt Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Hypoplastic radial head Delayed myelination Dysplastic tricuspid valve Severe global developmental delay Arthrogryposis multiplex congenita Abnormal cerebellum morphology Gliosis Brain atrophy Short metatarsal Relative macrocephaly Laryngomalacia Recurrent aspiration pneumonia Horseshoe kidney Talipes equinovarus Myopia Delayed speech and language development Distal widening of metacarpals Large sternal ossification centers Bullet-shaped middle phalanges of the hand Prominence of the premaxilla Short mandibular rami Laryngeal hypoplasia Macrogyria Septo-optic dysplasia Irregular dentition Atlantoaxial dislocation Dicarboxylic aciduria Delayed skeletal maturation Eclabion Abnormality of the larynx Villous atrophy Upper airway obstruction Choanal stenosis Obstructive sleep apnea Shallow orbits Glossoptosis Hypoplasia of the odontoid process Spinal canal stenosis Protruding tongue Slender long bone Overfolded helix Increased susceptibility to fractures Long philtrum Hyperhidrosis Widely spaced teeth Renal cyst Torticollis Spontaneous abortion Elbow flexion contracture Aspiration Long eyelashes Hypertrichosis Low posterior hairline Renal hypoplasia High myopia Congenital diaphragmatic hernia Webbed neck Vesicoureteral reflux Sepsis Triangular face Delayed eruption of teeth Brachycephaly Micromelia Gastroesophageal reflux Hypoglycemia Aggressive behavior Abnormality of the pinna Pallor Pulmonic stenosis Pulmonary hypoplasia Sleep disturbance Downturned corners of mouth High, narrow palate Small hand Highly arched eyebrow Single transverse palmar crease Tapered finger Leukopenia External genital hypoplasia Bone marrow hypocellularity Aphakia Prominent nose Neurodegeneration Hemolytic anemia Mental deterioration Abnormality of the nervous system Immunodeficiency Diarrhea Skeletal muscle atrophy Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Central adrenal insufficiency Cutaneous photosensitivity Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Convex nasal ridge Primary amenorrhea Limb hypertonia Neuroblastoma T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Medulloblastoma Recurrent sinopulmonary infections Recurrent bronchitis Acute leukemia Acute lymphoblastic leukemia Autoimmune hemolytic anemia Chronic diarrhea Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Recurrent pneumonia Lymphopenia Abnormality of the hair Sinusitis Bronchiectasis Hand tremor Hypopituitarism Anorectal anomaly Preaxial hand polydactyly Broad alveolar ridges Deviation of finger Pancreatic cysts Abnormality of the pancreas Hypoplasia of the zygomatic bone Abnormality of the skull Median cleft lip Exocrine pancreatic insufficiency Foot polydactyly Tarsal synostosis Milia Open bite Chronic otitis media Lobulated tongue Hand polydactyly Brittle hair Coarse hair Abnormality of dental enamel Multicystic kidney dysplasia Postaxial hand polydactyly Underdeveloped nasal alae Dry skin Elevated hepatic transaminase Alopecia Dilatation Downslanted palpebral fissures Accessory oral frenulum Hamartoma of tongue Adrenal insufficiency Renal dysplasia Albinism Anophthalmia Nephroblastoma Ectopia lentis Bilateral ptosis Anosmia Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Exotropia Amblyopia Dental crowding Retinal detachment Tongue nodules Falls Arachnodactyly Smooth philtrum Congenital cataract Coloboma Muscular hypotonia of the trunk Rigidity Reduced visual acuity Gait ataxia Micropenis Pain Odontogenic neoplasm Lip pit Recurrent infection of the gastrointestinal tract Penoscrotal hypospadias Hypergonadotropic hypogonadism Restrictive cardiomyopathy Large iliac wings Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Broad ribs Constrictive pericarditis Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Irregular vertebral endplates Submucous cleft hard palate Wheezing Pericarditis Arthropathy Keratoconus Thickened calvaria Abnormal joint morphology Pear-shaped nose Abnormality of the pubic bone Vertebral fusion Abnormality of the foot Spina bifida Abnormal vertebral morphology Insulin resistance Short thumb Aganglionic megacolon Abnormality of the genital system Pancytopenia Oligohydramnios Tetralogy of Fallot Renal agenesis Neutropenia Abnormality of skin pigmentation Dolichocephaly Generalized muscle hypertrophy Abnormality of the liver Irritability Abnormality of the kidney Abnormality of the eye Carcinoma Weight loss Congestive heart failure Hyperreflexia Hepatomegaly Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis High hypermetropia Short finger Dysgammaglobulinemia Abnormality of the abdominal wall Blepharophimosis Joint stiffness Cleft lip Deeply set eye Constipation Obesity Recurrent infections Abnormally prominent line of Schwalbe Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Anterior synechiae of the anterior chamber Microtia Posterior embryotoxon Abnormality of dental morphology Myotonia Prominent supraorbital ridges Slurred speech Reduced number of teeth Hypoplasia of dental enamel Everted lower lip vermilion Confusion Progressive vitiligo Mastoiditis Malar prominence Scarring Cough Pericardial effusion Abnormality of epiphysis morphology Blurred vision Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Oral-pharyngeal dysphagia Stridor Abnormality of the voice Precocious puberty Short long bone Narrow palpebral fissure EMG abnormality Aortic valve stenosis Thickened skin Platyspondyly Abnormality of the metaphysis Abnormal lung morphology Fine hair Abnormality of the ribs Coarctation of aorta Abnormality of the cardiovascular system Specific learning disability Limitation of joint mobility Bifid uvula Progressive cerebellar ataxia Short palm Oral cleft Hypermetropia Generalized tonic-clonic seizures with focal onset



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Facial asymmetry, related diseases and genetic alterations Congestive heart failure and Diarrhea, related diseases and genetic alterations Lymphoma and Delayed skeletal maturation, related diseases and genetic alterations Ptosis and Pulmonary hypoplasia, related diseases and genetic alterations Peripheral neuropathy and Spastic paraplegia, related diseases and genetic alterations Micrognathia and Recurrent urinary tract infections, related diseases and genetic alterations

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