Peripheral neuropathy, and Intestinal malrotation

Diseases related with Peripheral neuropathy and Intestinal malrotation

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


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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 VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

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Other less relevant matches:

Low match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Low match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Low match CORNELIA DE LANGE SYNDROME


Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

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

Low match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Low match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Intestinal malrotation

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hydronephrosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Low-set ears Short neck Long philtrum Umbilical hernia Telecanthus High palate Downslanted palpebral fissures Cataract Atrial septal defect Strabismus Scoliosis Vesicoureteral reflux Muscular hypotonia Depressed nasal bridge Intellectual disability Ventriculomegaly Seizures Short nose Hernia Inguinal hernia Narrow mouth Thick eyebrow Microcornea Low anterior hairline Hydrocephalus Coarse facial features Dry skin Generalized hirsutism Ptosis Osteopenia Iris coloboma Abnormality of cardiovascular system morphology Constipation Cryptorchidism Abdominal distention Abnormal facial shape Feeding difficulties in infancy Dysphagia Hypospadias Joint hypermobility Delayed puberty Dolichocephaly Pectus carinatum Clinodactyly of the 5th finger Global developmental delay Generalized hypotonia Intellectual disability, severe Epicanthus Kyphosis Splenomegaly Abnormality of the dentition Aganglionic megacolon Microcephaly Macrocephaly Vomiting Pectus excavatum Posteriorly rotated ears Brachycephaly Brachydactyly Nystagmus Hepatomegaly Gastroesophageal reflux Synophrys Macrotia Thickened skin Low-set, posteriorly rotated ears Narrow palate Open bite Coarse hair Long face Horseshoe kidney Patent ductus arteriosus Coarctation of aorta Thin vermilion border Volvulus Full cheeks Sensorineural hearing impairment Conductive hearing impairment Downturned corners of mouth

Rare Symptoms - Less than 30% cases


Delayed skeletal maturation Platybasia Neurological speech impairment Malar flattening Respiratory tract infection Thrombocytopenia Rough bone trabeculation Biconcave vertebral bodies Autism Recurrent infections Cerebral cortical atrophy Delayed cranial suture closure Renal agenesis Hypertonia Renal insufficiency Partial absence of toe Hypoplastic 5th lumbar vertebrae Fine hair Endocarditis Renal hypoplasia Abnormality of the sternum Bilateral sensorineural hearing impairment Microphthalmia Facial palsy Absent frontal sinuses Polyhydramnios Mitral stenosis Bone pain Patellar dislocation Multiple renal cysts Syringomyelia Prominent occiput Abnormality of the voice Arnold-Chiari malformation Osteolysis Abnormality of the fingernails Wormian bones Skin ulcer Aortic valve stenosis Short toe Bowing of the long bones Pyloric stenosis Recurrent fractures Decreased skull ossification Wide nose Short distal phalanx of finger Joint hyperflexibility Smooth philtrum Arthralgia Skeletal dysplasia Osteoporosis Recurrent respiratory infections Ectopic kidney Headache Wide nasal bridge Hyperextensible skin Premature birth Periodontitis Sparse eyebrow Pain Hypertension Talipes equinovarus Obsessive-compulsive behavior Cutis laxa Motor delay Dilatation Prominent forehead Abnormality of the ulna Diabetes mellitus Polydactyly Increased nuchal translucency Hyperkeratosis Pes planus Poor suck Atresia of the external auditory canal Abnormality of the pinna Hydroureter Malnutrition Sparse hair Coloboma Narrow face Astigmatism Recurrent urinary tract infections Abnormal heart morphology Preauricular skin tag Arachnodactyly Thick vermilion border Broad forehead Joint stiffness Feeding difficulties Intrauterine growth retardation Glaucoma Hypoplasia of the zygomatic bone Sleep disturbance Thin skin Low posterior hairline Anal stenosis Intestinal pseudo-obstruction High, narrow palate Bruising susceptibility Polycystic kidney dysplasia Intestinal obstruction Talipes Facial asymmetry Choanal atresia Blepharophimosis Dental malocclusion Scarring Renal malrotation Growth delay Joint laxity Thin upper lip vermilion Retrognathia Multicystic kidney dysplasia Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Abnormality of the optic nerve Generalized hyperpigmentation Submucous cleft hard palate Underdeveloped supraorbital ridges Woolly hair Poor appetite Atopic dermatitis Dystrophic fingernails Alopecia of scalp Abnormal hair pattern Thick upper lip vermilion Short attention span Abnormal eyelash morphology Abnormality of the gastrointestinal tract Arnold-Chiari type I malformation Premature skin wrinkling Absent eyelashes Enlarged kidney Biparietal narrowing Curly hair Absent eyebrow Multiple cafe-au-lait spots Abnormal bleeding Lymphedema Cafe-au-lait spot Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Nevus Palmoplantar keratoderma Cerebral visual impairment Hepatic steatosis Retinal dystrophy Bulbous nose Falls Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Genu valgum Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Nail dystrophy Pruritus Hyperpigmentation of the skin Aspiration Abnormal heart valve morphology Failure to thrive in infancy Long palpebral fissure Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Large for gestational age Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Bilateral ptosis Brittle hair Abnormality of the nail Redundant skin Deep philtrum Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Abnormality of refraction Cutaneous T-cell lymphoma Deep palmar crease Impaired ocular adduction Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Crossed fused renal ectopia Hemifacial hypoplasia Unilateral renal hypoplasia Aplasia of metacarpal bones Bilateral renal dysplasia Radial deviation of the hand Unilateral deafness Renal steatosis Impaired ocular abduction Abnormal lacrimal duct morphology Impaired convergence Hypoplasia of the cochlea Cochlear malformation Palpebral fissure narrowing on adduction Branchial fistula Arteria lusoria Pectoralis hypoplasia Branchial cyst Body odor Slit-like opening of the exterior auditory meatus Abnormality of the middle ear ossicles Bilateral renal agenesis Abnormality of the cerebrum Incomplete partition of the cochlea type II Lacrimal duct stenosis Preaxial hand polydactyly Small thenar eminence Abnormality of the nasopharynx Bladder diverticulum Fused cervical vertebrae Optic disc hypoplasia Retinal coloboma Choanal stenosis Absent radius Short humerus Absent thumb Hypoplasia of the ulna Triphalangeal thumb Dilatated internal auditory canal Preaxial polydactyly Abnormality of the urinary system Hypoplasia of the radius Abnormal dermatoglyphics Sandal gap Spina bifida occulta Short thumb Anal atresia Syndactyly Gustatory lacrimation Enlarged cochlear aqueduct Cholesteatoma Overbite Ureteropelvic junction obstruction Gastrointestinal dysmotility Anterior creases of earlobe Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Frontal balding Puberty and gonadal disorders Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Abnormal location of ears Morphological abnormality of the gastrointestinal tract Lacrimation abnormality Oligohydramnios Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Preauricular pit Epiphora Cupped ear Renal hypoplasia/aplasia Congenital hip dislocation Renal dysplasia Atrial fibrillation Microdontia Duane anomaly Bifid uvula Pulmonary hypoplasia Flat face Microtia Paralysis Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Abnormal cardiac septum morphology Leukemia Metatarsus adductus Erythema Bilateral cryptorchidism Hiatus hernia Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Fragile skin Prolonged bleeding time Atrophic scars Bilateral talipes equinovarus Abnormality of the coagulation cascade Cerebral hemorrhage Congenital contracture Diastasis recti Pterygium Recurrent skin infections Adducted thumb Microretrognathia Joint dislocation Exotropia Nephrolithiasis Large fontanelles Blue sclerae High myopia Nephrotic syndrome Low hanging columella Generalized joint laxity Tapered finger Glomerulonephritis Absent speech Hypoplasia of the corpus callosum Respiratory distress Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Respiratory arrest Osteolytic defects of the phalanges of the hand Hematuria Ecchymosis Paresthesia Abnormality of the mandible Abnormality of the skull Abnormality of the duodenum Hyperalgesia Decreased palmar creases Talipes valgus Flat forehead Abnormal anterior chamber morphology Dermal translucency Pneumothorax Mitral valve prolapse Retinal detachment Mandibular prognathia Weight loss Hypoalbuminemia External ophthalmoplegia Pancreatitis Interphalangeal joint contracture of finger Overgrowth Round face Narrow chest Ophthalmoplegia Prominent nasal bridge Abnormality of the liver Abdominal pain Anonychia Pneumonia Diarrhea Myopathy Skeletal muscle atrophy Fever Increased size of the mandible Congenital shortened small intestine Increased mean platelet volume Arthropathy Multiple lipomas Spastic diplegia Portal hypertension Disproportionate tall stature Arthrogryposis multiplex congenita Barrett esophagus Short philtrum Protruding ear Kyphoscoliosis Respiratory failure Abnormality of the skeletal system Flexion contracture Muscle weakness Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Urethral obstruction Hyperparathyroidism Megacystis Prune belly Microcolon Pollakisuria Urinary retention Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Achalasia Chronic constipation Episodic abdominal pain Upslanted palpebral fissure Hypoglycemia Irritability Elbow dislocation Short 1st metacarpal Hypoplastic labia majora Severe postnatal growth retardation Blepharitis Oligodactyly Hypoplastic nipples Truncal obesity Cutis marmorata Aplasia/Hypoplasia of the cerebellum Proximal placement of thumb Radioulnar synostosis Curly eyelashes Widely spaced teeth Bilateral single transverse palmar creases Long eyelashes Primary amenorrhea Congenital diaphragmatic hernia Hypoplasia of penis Hip dysplasia Delayed eruption of teeth Highly arched eyebrow Short foot Small hand Abnormality of the uterus Phthisis bulbi Toe syndactyly Cerebral atrophy Abnormality of the eye Hypertrophic cardiomyopathy Aggressive behavior EEG abnormality High forehead Proptosis Hyperhidrosis Alopecia Encephalopathy Depressivity Behavioral abnormality Prenatal movement abnormality Congestive heart failure Blindness Edema Cardiomyopathy Frontal bossing Optic atrophy Dysarthria Delayed speech and language development Neoplasm Ataxia Abnormally low-pitched voice Micromelia Hip dislocation Neonatal hypotonia Hypertrichosis Clitoral hypertrophy Precocious puberty Polycystic ovaries Abnormality of the outer ear Acanthosis nigricans Nephrocalcinosis Sparse and thin eyebrow Insulin resistance Wide anterior fontanel Dental crowding Epidermal acanthosis Hyperglycemia Optic disc pallor Dehydration Single transverse palmar crease Postaxial polydactyly Hirsutism Carious teeth Postnatal growth retardation Hyperlordosis Muscular hypotonia of the trunk Proteinuria Abnormality of the nervous system Neonatal respiratory distress Abnormality of the thyroid gland Attention deficit hyperactivity disorder Diastema Anxiety Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Advanced eruption of teeth Prematurely aged appearance Hypocholesterolemia Long penis Thick nail Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Ketoacidosis Bell-shaped thorax Growth hormone excess Upper limb muscle hypoplasia



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