Flexion contracture, and Dental malocclusion

Diseases related with Flexion contracture and Dental malocclusion

In the following list you will find some of the most common rare diseases related to Flexion contracture and Dental malocclusion that can help you solving undiagnosed cases.


Top matches:

Low match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Low match CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY


Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated.

CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY Is also known as cdg syndrome type iu|carbohydrate deficient glycoprotein syndrome type iu|congenital disorder of glycosylation type 1u|congenital disorder of glycosylation type iu|cdg1u|dpm2-cdg|cdg-iu|cdg iu|cdgiu|cmd with intellectual disability and severe epilepsy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTELLECTUAL DISABILITY AND SEVERE EPILEPSY

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Low match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Low match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Low match GERODERMA OSTEODYSPLASTICA


Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICA Is also known as walt disney dwarfism|gerodermia osteodysplastica

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERODERMA OSTEODYSPLASTICA

Low match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Top 5 symptoms//phenotypes associated to Flexion contracture and Dental malocclusion

Symptoms // Phenotype % cases
Camptodactyly Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Flexion contracture and Dental malocclusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hearing impairment Mandibular prognathia Short nose Hernia Global developmental delay Scoliosis Growth delay Short stature Strabismus Umbilical hernia Intellectual disability Pes planus Abnormal facial shape Wide nasal bridge Joint laxity Deeply set eye Muscle weakness Malar flattening Ptosis Talipes equinovarus Cryptorchidism Feeding difficulties Arthrogryposis multiplex congenita Thin skin

Rare Symptoms - Less than 30% cases


Bruising susceptibility Congenital contracture Hyperextensible skin Abnormality of the skeletal system Thin upper lip vermilion Anteverted nares Redundant skin Intellectual disability, mild Irregular vertebral endplates Atrial septal defect Failure to thrive Joint contracture of the hand Short phalanx of finger Platyspondyly Downslanted palpebral fissures Overbite Proptosis Short metacarpal Osteopenia Patent ductus arteriosus Skeletal dysplasia Depressed nasal bridge Postnatal growth retardation Camptodactyly of finger Abnormality of the dentition Myopia Abnormality of the outer ear Talipes Muscular hypotonia Underdeveloped nasal alae Wide mouth Delayed speech and language development Long face Decreased fetal movement Easy fatigability Gowers sign Kyphoscoliosis Cutis laxa Weak cry Fatigable weakness Hip dislocation Blepharophimosis Low-set ears Respiratory distress Cleft palate Hypoplasia of the maxilla Respiratory tract infection Severe short stature Osteoporosis Seizures Inguinal hernia Epicanthus Long philtrum High forehead Abnormality of skin pigmentation Syndactyly Ectodermal dysplasia Thin vermilion border Finger syndactyly Dry skin Toe syndactyly Abnormality of the pinna Sparse hair Visual impairment Microtia Corneal opacity Prematurely aged appearance Stooped posture Knee osteoarthritis Microcornea Recurrent fractures Joint hyperflexibility Pectus carinatum Abnormality of the eye EEG abnormality Uterine prolapse Bowing of the long bones Intervertebral disc degeneration Protrusio acetabuli Abdominal aortic aneurysm Dural ectasia Arterial tortuosity Hip osteoarthritis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Pseudoepiphyses Premature skin wrinkling Abnormal bone ossification Biconcave vertebral bodies Hyperextensibility of the finger joints Vertebral compression fractures Beaking of vertebral bodies Progeroid facial appearance Periodontitis Congenital hip dislocation Protuberant abdomen Ambiguous genitalia Tibial bowing Femoral bowing Increased susceptibility to fractures Abnormality of vision Wormian bones Microdontia Abnormality of finger Hypoplasia of penis Telecanthus Spina bifida occulta Knee flexion contracture Intellectual disability, profound Abnormality of the skin Flat face Small for gestational age Arthritis Nasal speech Narrow mouth Glaucoma Prominent forehead Hypertonia Cerebellar atrophy Myopathy Adducted thumb Pterygium Fever Breech presentation Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Dimple chin Trismus Rheumatoid arthritis Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Hypoplasia of the brainstem Short neck Long uvula Interphalangeal joint contracture of finger Atresia of the external auditory canal Abnormality of the mouth Absent eyelashes Hypoplastic nipples Absent eyebrow Ectropion Sparse eyebrow Sacral dimple Hypoplasia of the zygomatic bone Cutaneous syndactyly Short chin Abnormality of the genital system Omphalocele Hypertrichosis Fine hair Shallow orbits Osteochondritis Dissecans Ventral hernia Abnormal nasal morphology Absent hair Microtia, third degree Ablepharon Cryptophthalmos Abnormality of female external genitalia Short upper lip Excessive wrinkled skin Corneal erosion Breast hypoplasia Absent nipple Aplasia/Hypoplasia of the nipples High-frequency hearing impairment Labial hypoplasia Conical tooth Abnormal hair pattern Thoracic aortic aneurysm Mild microcephaly Low back pain Broad femoral neck Severe muscular hypotonia Trigonocephaly Myopathic facies Primitive reflex Tapered finger Delayed eruption of teeth Hypodontia Bifid uvula Waddling gait Blue sclerae Abnormality of the metaphysis Metaphyseal widening Short femoral neck Prominent superficial veins Flat capital femoral epiphysis Hypotelorism Flattened epiphysis Thenar muscle atrophy Moderately short stature Cigarette-paper scars Absent palmar crease Sensorineural hearing impairment Brachydactyly Macrocephaly Frontal bossing Midface retrusion Clinodactyly Micropenis Conductive hearing impairment Cleft lip Postnatal microcephaly Generalized myoclonic seizures Otitis media Limb-girdle muscle weakness Motor delay Dysarthria Skeletal muscle atrophy Fatigue Dysphagia Respiratory failure Proximal muscle weakness Facial palsy Limb muscle weakness Muscle cramps Respiratory insufficiency due to muscle weakness Ophthalmoparesis Decreased muscle mass Abnormality of the immune system Type 2 muscle fiber atrophy Cerebellar hypoplasia EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Decreased size of nerve terminals Respiratory insufficiency Neonatal hypotonia Apnea Falls Generalized muscle weakness Frequent falls Narrow palpebral fissure Poor suck Multiple joint contractures Prominent occiput Optic atrophy Elevated serum creatine phosphokinase Short distal phalanx of finger Overgrowth Spondylolisthesis Osteoarthritis Velopharyngeal insufficiency Endometriosis Left-to-right shunt Muscular ventricular septal defect Thin lower lip vermilion Pain Headache Dilatation Pulmonic stenosis Arachnodactyly Migraine Mitral valve prolapse Ventricular hypertrophy Atrial fibrillation Mitral regurgitation High anterior hairline Left ventricular hypertrophy Aortic regurgitation Bicuspid aortic valve Back pain Aortic aneurysm Disproportionate tall stature Abnormality of the sternum Slender finger Abnormal joint morphology Striae distensae Subarachnoid hemorrhage Dilatation of the cerebral artery Soft skin Aortic dissection Perimembranous ventricular septal defect Low hanging columella Limb undergrowth Otitis media with effusion Broad thumb Dental crowding Gingival overgrowth Increased bone mineral density Oligodontia Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Narrow nasal tip Ventricular septal defect Long nose Short palpebral fissure Overlapping toe Unilateral renal agenesis Premature ovarian insufficiency Horseshoe kidney Pointed chin Recurrent urinary tract infections Renal agenesis Abnormal heart morphology Anal atresia Carious teeth Broad forehead Abnormal cardiac septum morphology Retrognathia Upslanted palpebral fissure Chin with H-shaped crease



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