Muscle weakness, and Intestinal malrotation

Diseases related with Muscle weakness and Intestinal malrotation

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

Top matches:

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

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

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Other less relevant matches:

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

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS 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

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

Top 5 symptoms//phenotypes associated to Muscle weakness and Intestinal malrotation

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hydronephrosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Intellectual disability Strabismus Failure to thrive Downslanted palpebral fissures Abnormal heart morphology Cryptorchidism Retrognathia Patent ductus arteriosus Low-set ears Gastroesophageal reflux Posteriorly rotated ears Ventricular septal defect Talipes equinovarus Dilatation Brachycephaly Seizures Short stature Long philtrum Abnormality of the skeletal system High, narrow palate High palate Cleft palate Hydrocephalus Conductive hearing impairment Bifid uvula Oligohydramnios Narrow palate Cognitive impairment Dermal translucency Microdontia Umbilical hernia Anteverted nares Muscular hypotonia Myopia Micrognathia Microcephaly Facial palsy Anteriorly placed anus Ptosis Microphthalmia Syndactyly Broad forehead Abnormality of the pinna Sensorineural hearing impairment Anal atresia Constipation Aganglionic megacolon Hypertension Pectus excavatum Anal stenosis Ventriculomegaly Hypoplasia of the maxilla Joint laxity Abnormal facial shape Depressed nasal bridge Arachnodactyly Short nose Craniosynostosis Hernia Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Fragile skin Abdominal distention Bilateral cryptorchidism Thin upper lip vermilion Postnatal growth retardation Coarctation of aorta Intellectual disability, mild Hypoplasia of the corpus callosum Delayed cranial suture closure Delayed eruption of teeth Protruding ear Hyperextensible skin Mitral valve prolapse Macrocephaly Low anterior hairline Abnormality of the sternum Telecanthus Sparse scalp hair Pyloric stenosis Severe short stature Abnormality of cardiovascular system morphology Recurrent urinary tract infections Delayed skeletal maturation Clinodactyly of the 5th finger Smooth philtrum Growth delay Blue sclerae Cleft lip Micropenis Natal tooth Hypothyroidism Convex nasal ridge Microretrognathia Intrauterine growth retardation Intellectual disability, severe Large fontanelles Metaphyseal widening Osteopenia Abnormality of the foot Oligodontia Prominent forehead Proptosis High forehead Camptodactyly Apnea Feeding difficulties in infancy Renal malrotation Hypoplastic nipples Short neck Dolichocephaly Bilateral sensorineural hearing impairment Renal agenesis Renal hypoplasia Dental malocclusion Lacrimation abnormality Mixed hearing impairment Abnormality of the metaphysis Ectopic kidney Flexion contracture Wide anterior fontanel Joint contracture of the hand Multicystic kidney dysplasia Frontal bossing Respiratory distress Vesicoureteral reflux Pes planus Narrow mouth Pneumothorax Aortic aneurysm Spina bifida occulta Horseshoe kidney Abnormality of the kidney Choanal atresia Microcornea Pulmonary hypoplasia Inguinal hernia Facial asymmetry Joint hypermobility Microtia Cataract Epicanthus Diabetes mellitus Long face Flat face Paralysis Generalized hirsutism Low posterior hairline Hypertrichosis Cerebellar vermis hypoplasia Short palpebral fissure Small nail Pachygyria Coarse hair Bicuspid aortic valve Heterotopia Scrotal hypoplasia Abnormality of the metacarpal bones Abnormality of vision Left ventricular hypertrophy Feeding difficulties Pulmonary arterial hypertension Abnormal aortic valve morphology Hallux varus Cranial asymmetry Abdominal wall muscle weakness Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Lateral clavicle hook Aplasia/Hypoplasia of the abdominal wall musculature C1-C2 vertebral abnormality Cloverleaf skull Spondylolisthesis Communicating hydrocephalus Missing ribs Genu recurvatum Microglossia Obstructive sleep apnea Shallow orbits Arnold-Chiari type I malformation Aortic root aneurysm Minimal subcutaneous fat Absent speech Sepsis Mandibular prognathia Triangular face Everted lower lip vermilion Short distal phalanx of finger Astigmatism Synophrys Hypermetropia Platyspondyly Sparse hair Abnormality of the eye Cerebellar hypoplasia Tetraplegia Midface retrusion Respiratory insufficiency Brachydactyly Large hands Nystagmus Hypsarrhythmia Intellectual disability, profound Spastic tetraplegia Epileptic encephalopathy Brain atrophy Redundant skin Cleft upper lip Tricuspid regurgitation Large forehead Laryngotracheomalacia Alobar holoprosencephaly Broad clavicles Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Facial paralysis Broad ribs Craniofacial osteosclerosis Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Fibular hypoplasia Submucous cleft hard palate Thickened calvaria Partial agenesis of the corpus callosum Visual field defect Hypoplastic left heart Large iliac wings Laryngeal web Aphasia Overlapping toe Congenital shortened small intestine Increased mean platelet volume Intestinal pseudo-obstruction Volvulus Arthropathy Multiple lipomas Spastic diplegia Intestinal obstruction Thrombocytopenia Vomiting Peripheral neuropathy Hypoplastic philtrum Hemolytic-uremic syndrome Broad-based gait Unilateral facial palsy Hemiparesis Status epilepticus Hematuria Poor speech Proteinuria Coarse facial features Diarrhea Tremor Paranasal sinus hypoplasia Straight clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Dysphasia Hyperostosis Anonychia Recurrent aspiration pneumonia Headache Myopathy Wide nasal bridge Delayed speech and language development Pain Neoplasm Aplasia/Hypoplasia of the nasal bone Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Absence of subcutaneous fat Polyhydramnios Hypoplasia of the musculature Absent nipple Deep palmar crease Prominent superficial veins Premature skin wrinkling Abnormal eyelid morphology Sclerocornea Coronal craniosynostosis Abnormality of the skull Turricephaly Underdeveloped supraorbital ridges Protruding tongue Prematurely aged appearance Reduced subcutaneous adipose tissue Clinodactyly Skeletal dysplasia Flat occiput Dental crowding Nephroblastoma Overfolded helix Increased susceptibility to fractures Nasal speech Mutism Cutaneous syndactyly Holoprosencephaly Osteolysis Spontaneous abortion Spina bifida Increased bone mineral density Aortic valve stenosis Abnormal vertebral morphology Omphalocele Hyperlordosis Open mouth Thick lower lip vermilion Lumbar hyperlordosis Narrow forehead Cerebral calcification Specific learning disability Wide intermamillary distance Abnormality of the skin Webbed neck Broad nasal tip Thick vermilion border Thin vermilion border Thin ribs Ophthalmoplegia Dislocated radial head Adducted thumb Slender finger Crossed fused renal ectopia Pectoralis hypoplasia Palpebral fissure narrowing on adduction Impaired convergence Impaired ocular abduction Impaired ocular adduction Unilateral deafness Radial deviation of the hand Aplasia of metacarpal bones Hemifacial hypoplasia Optic disc hypoplasia Upper limb muscle hypoplasia Duane anomaly Small thenar eminence Abnormality of the nasopharynx Bladder diverticulum Fused cervical vertebrae Retinal coloboma Choanal stenosis Absent radius Short humerus Absent thumb Slit-like opening of the exterior auditory meatus Anemia Preaxial hand polydactyly Hypotrichosis Cafe-au-lait spot Cholestasis Hypoplasia of penis Growth hormone deficiency Underdeveloped nasal alae Generalized muscle weakness Single transverse palmar crease Downturned corners of mouth Hepatic failure Malabsorption Dilated cardiomyopathy Hepatomegaly Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Elevated hepatic transaminase Upslanted palpebral fissure Alopecia Hypospadias Edema Cardiomyopathy Fatigue Hypoplasia of the ulna Triphalangeal thumb Abnormality of the nail Epiphora Body odor Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Stenosis of the external auditory canal External ear malformation Premature graying of hair Preauricular pit Cupped ear Arteria lusoria Polycystic kidney dysplasia Atresia of the external auditory canal Renal hypoplasia/aplasia Congenital hip dislocation Narrow face Preauricular skin tag Renal dysplasia Atrial fibrillation Renal insufficiency Dysphagia Branchial cyst Branchial fistula Preaxial polydactyly Cholesteatoma Abnormality of the urinary system Hypoplasia of the radius Abnormal dermatoglyphics Sandal gap Short thumb Iris coloboma Coloboma Polydactyly Gustatory lacrimation Enlarged cochlear aqueduct Dilatated internal auditory canal Cochlear malformation Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Situs inversus totalis Hypocalcemia Disproportionate tall stature Atrophic scars Ecchymosis Generalized joint laxity Diastasis recti Low hanging columella Hiatus hernia Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Prolonged bleeding time Bilateral talipes equinovarus Endocarditis Abnormality of the coagulation cascade Cerebral hemorrhage Congenital contracture Pterygium Recurrent skin infections Cutis laxa Joint dislocation Exotropia Nephrolithiasis Thin skin Abnormal anterior chamber morphology Flat forehead Nephrotic syndrome Mitral regurgitation Metatarsus adductus Hammertoe Elbow dislocation Ectopia lentis Arnold-Chiari malformation Infantile muscular hypotonia Aortic regurgitation Amblyopia Bowing of the long bones Abnormal form of the vertebral bodies Interphalangeal joint contracture of finger Talipes valgus Joint hyperflexibility Genu valgum Narrow chest Pectus carinatum Camptodactyly of finger Joint stiffness Low-set, posteriorly rotated ears Abnormality of the duodenum Hyperalgesia Decreased palmar creases High myopia Tapered finger Pointed chin Glycosuria Abnormal vagina morphology Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Facial cleft Hypopituitarism Agenesis of permanent teeth Skin dimples Steatorrhea Hydroureter Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Aplasia cutis congenita of scalp Frontal upsweep of hair Retinal detachment Motor delay Bruising susceptibility Thick eyebrow Talipes Arthrogryposis multiplex congenita Short philtrum Blepharophimosis Scarring Kyphoscoliosis Respiratory failure Glaucoma Midline skin dimples over anterior/posterior fontanelles Uterus didelphys Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Increased size of the mandible


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