Ataxia, and Intestinal malrotation

Diseases related with Ataxia and Intestinal malrotation

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


Top matches:

Low match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

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Other less relevant matches:

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL 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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60


Related symptoms:

  • Intellectual disability
  • Seizures
  • Absent speech
  • Tetraplegia
  • Brain atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60

Low match SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME


Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Low match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Low match NPHP3-RELATED MECKEL-LIKE SYNDROME


NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Low match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Intestinal malrotation

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Cryptorchidism Downslanted palpebral fissures Strabismus Scoliosis Macrocephaly Ptosis Intellectual disability, severe Ventricular septal defect Hernia Anteverted nares Polydactyly Muscular hypotonia Abnormal facial shape Hypertension Nystagmus Depressed nasal bridge Hydrocephalus Atrial septal defect Renal cyst Relative macrocephaly Failure to thrive Multicystic kidney dysplasia High, narrow palate Volvulus Micrognathia Webbed neck Hearing impairment Neoplasm Coarse facial features Proptosis Polyhydramnios Highly arched eyebrow Aggressive behavior Hydronephrosis Wide mouth Gastroesophageal reflux Feeding difficulties in infancy Splenomegaly Feeding difficulties Myopia Abnormality of the dentition Vomiting Abnormal heart morphology Cardiomyopathy Short neck Oculomotor apraxia Patent ductus arteriosus Delayed speech and language development Clinodactyly of the 5th finger Pulmonic stenosis Abnormality of the skeletal system Ventriculomegaly Growth delay Hypertonia Thrombocytopenia Constipation Hepatomegaly

Rare Symptoms - Less than 30% cases


Irritability Hyperhidrosis Astigmatism Neurological speech impairment Abnormal cardiac septum morphology Pectus excavatum Respiratory tract infection Prominent forehead Autism Low-set, posteriorly rotated ears High forehead Telecanthus Hypertrophic cardiomyopathy Delayed skeletal maturation Umbilical hernia Macrotia Absent speech Deep philtrum Broad thumb Hypospadias Enlarged kidney Thin upper lip vermilion Abnormality of the gastrointestinal tract Thick upper lip vermilion Cleft palate Wide nasal bridge Talipes equinovarus Syndactyly Abnormality of digit Abnormality of the pinna Mandibular prognathia Hypoglycemia Toe syndactyly Cleft upper lip Thin vermilion border Broad nasal tip Dandy-Walker malformation Congenital diaphragmatic hernia Proteinuria Poor appetite Bulbous nose Aspiration Thick vermilion border Sleep disturbance Abdominal distention Vesicoureteral reflux Dental malocclusion Low posterior hairline Hemiparesis Cerebral visual impairment Pyloric stenosis Synophrys Low anterior hairline Long philtrum Long eyelashes High myopia Large for gestational age Hydroureter Downturned corners of mouth Pulmonary hypoplasia Thick eyebrow Abnormality of cardiovascular system morphology Renal dysplasia Short nose Gait disturbance Congenital hepatic fibrosis Apnea Prominent nasal bridge Frontal bossing Optic nerve coloboma Cholestasis Biparietal narrowing Occipital encephalocele Encephalocele Smooth philtrum Hepatic fibrosis Postaxial polydactyly Retinal dystrophy Stage 5 chronic kidney disease Aplasia/Hypoplasia of the corpus callosum Long face Molar tooth sign on MRI Portal hypertension Tremor Cerebellar vermis hypoplasia Dilatation Coloboma Behavioral abnormality Abnormality of the kidney Blindness Abnormality of the eye Agenesis of corpus callosum Dysarthria Postaxial hand polydactyly Optic atrophy Epicanthus Cerebellar hypoplasia Retrognathia Cataract Short stature High palate Penoscrotal hypospadias Broad toe Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Short 2nd finger 2-3 finger syndactyly Narrow sacroiliac notch Short sacroiliac notch Broad secondary alveolar ridge Posterior helix pit Nephroblastomatosis Submucous cleft lip Pneumonia Cleft lower lip Hyperactivity Autistic behavior Pallor Postnatal growth retardation Hepatic cysts Camptodactyly Conductive hearing impairment Meningoencephalocele Narrow mouth Glaucoma Brachycephaly Cyst of the ductus choledochus Severe short stature Hepatoblastoma Clinodactyly Headache Intrauterine growth retardation Fever Anemia Sensorineural hearing impairment Microcephaly Two carpal ossification centers present at birth Embryonal neoplasm Furrowed tongue Meckel diverticulum Nephroblastoma Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Single umbilical artery Bundle branch block Speech apraxia Bilateral talipes equinovarus Preauricular pit Cupped ear Abnormality of the voice Wide intermamillary distance Abnormality of the hand Accelerated skeletal maturation Narrow palpebral fissure Cavum septum pellucidum Congenital hip dislocation Cardiac arrest Diastema Hoarse voice Short toe Preauricular skin tag Tall stature Slender finger Broad palm Cervical ribs Diastasis recti Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Small for gestational age Renal neoplasm Duodenal atresia Polysplenia Transposition of the great arteries Low hanging columella Broad foot Abnormal lung lobation Potter facies Multiple glomerular cysts Choroid plexus cyst Abnormal biliary tract morphology Pancreatic dysplasia Abnormal liver parenchyma morphology Neuroblastoma Pes planus Craniosynostosis Microcornea Hip dislocation Curly eyelashes Increased size of the mandible Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Respiratory insufficiency Hypoplastic male external genitalia Hepatosplenomegaly Absent hand Reduced renal corticomedullary differentiation Gastroparesis Phocomelia Hand oligodactyly Oligohydramnios Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Recurrent hypoglycemia Large fontanelles Otitis media with effusion Congenital shortened small intestine Aortic valve stenosis Brain atrophy Hematuria Poor speech Broad-based gait Diarrhea Hypsarrhythmia Overlapping toe Hemolytic-uremic syndrome Intellectual disability, profound Spastic tetraplegia Epileptic encephalopathy Hypoplastic philtrum Abnormality of the umbilicus Peripheral neuropathy Aganglionic megacolon Tetraplegia Intestinal obstruction Spastic diplegia Multiple lipomas Arthropathy Intestinal pseudo-obstruction Increased mean platelet volume Dysplastic tricuspid valve Hypoplastic radial head Hypoplastic labia majora Esophagitis Pancreatic cysts Otitis media Elbow flexion contracture Increased body weight Biliary cirrhosis Bile duct proliferation Recurrent urinary tract infections Choanal atresia Hypertrichosis Renal hypoplasia Blue sclerae Microdontia Sepsis Torticollis Triangular face Status epilepticus Delayed eruption of teeth Tapered finger Single transverse palmar crease Small hand Tapetoretinal degeneration Hirsutism Cystic renal dysplasia Vertigo Micromelia Spontaneous abortion Widely spaced teeth Aspiration pneumonia Ectopic kidney Hiatus hernia Ectrodactyly Oligodactyly Hypoplastic nipples Situs inversus totalis Dislocated radial head Weak cry Postaxial foot polydactyly Limited elbow extension Opisthotonus 2-3 toe syndactyly Hypoplasia of the radius Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Right ventricular hypertrophy Clubbing Proximal placement of thumb Self-injurious behavior Abnormality of the pancreas Short metatarsal Incoordination Abnormality of the urinary system Supernumerary ribs Thickened helices Abnormality of the genital system Dry skin Full cheeks Abnormal bleeding Palmoplantar keratoderma Hepatic steatosis Bruising susceptibility Falls Joint hypermobility Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Genu valgum Premature birth Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Pruritus Leukemia Pectus carinatum Scarring Sparse hair Erythema Nevus Growth hormone deficiency Osteopenia Hyperpigmentation of the skin Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Abnormal palate morphology Cutis laxa Sparse eyelashes Narrow palate Abnormality of the nail Lymphedema Progressive visual loss Cafe-au-lait spot Thickened skin Decreased body weight Open mouth Inflammatory abnormality of the skin Myocardial infarction Fine hair Coarctation of aorta Cardiomegaly Narrow forehead Abnormality of the cardiovascular system EEG abnormality Hyperkeratosis Abnormality of vision Hyperreflexia Nephropathy Iris coloboma Cirrhosis Oral cleft Abnormality of eye movement Abnormality of the liver Intellectual disability, moderate Abnormality of the nervous system Elevated hepatic transaminase Renal insufficiency Visual impairment Gastrointestinal hemorrhage Spasticity Sacrococcygeal teratoma Hamartoma of tongue Teratoma Hamartoma Heterotopia Short palpebral fissure Inability to walk Retinopathy Motor delay Cognitive impairment Round face Apraxia Cerebral cortical atrophy Chronic hepatic failure Posteriorly rotated ears Alopecia Encephalopathy Depressivity Cerebral atrophy Malar flattening Kyphosis Congestive heart failure Edema Dysphagia Intrahepatic biliary atresia Multiple small medullary renal cysts Chronic kidney disease Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Cholestatic liver disease Esophageal varix Neoplasm of the liver Abnormality of abdomen morphology Nephronophthisis Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Palmoplantar hyperkeratosis Poor suck Clumsiness Hypoplasia of the frontal lobes Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Optic nerve dysplasia Abnormality of the auditory canal Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Inappropriate crying Multiple palmar creases Abnormality of the pulmonary artery Short distal phalanx of finger Omphalocele Small nail Abnormality of the ribs Hypoplasia of penis Overgrowth Nail dysplasia Bifid uvula Macroglossia Short foot Retinal detachment Wide nose Short palm Eyelid fasciculation Facial asymmetry Congenital cataract Finger syndactyly Camptodactyly of finger Cleft lip Hypothyroidism Upslanted palpebral fissure Arrhythmia Obesity Oral aversion Multiple plantar creases Excessive wrinkled skin Hyperextensibility of the finger joints Hyperextensible skin Obsessive-compulsive behavior Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Malnutrition Open bite Absent eyebrow Heart murmur Curly hair Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Multiple cafe-au-lait spots Generalized hyperpigmentation Abnormal aortic valve morphology Abnormal hair pattern Subvalvular aortic stenosis Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Woolly hair Submucous cleft hard palate Short attention span Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Underdeveloped supraorbital ridges Anal stenosis Unilateral cryptorchidism



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