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.
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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
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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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
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
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
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
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
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
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Melanoma and Abnormality of the ribs, related diseases and genetic alterations
Edema and Hypoplasia of penis, related diseases and genetic alterations
Ptosis and Atrial fibrillation, related diseases and genetic alterations
Hypertension and Abnormality of metabolism/homeostasis, related diseases and genetic alterations
Anemia and Delayed puberty, related diseases and genetic alterations
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