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, 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 myasthenic syndrome, congenital, ie, formerly;cms1e, formerly, cms ie, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: MESH MONDO UMLS OMIM DOID

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

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 myasthenic syndrome, congenital, type id;cms1d, formerly, cms id, formerly, myasthenia, familial infantile, 1, formerly;fim1, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Strabismus
  • Motor delay
  • Ptosis


SOURCES: DOID GARD UMLS MONDO OMIM

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

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U Is also known as cdg iu;cdgiu;cdg syndrome type iu; cdg-iu; cdg1u; cmd with intellectual disability and severe epilepsy; carbohydrate deficient glycoprotein syndrome type iu; congenital disorder of glycosylation type 1u; congenital disorder of glycosylation type iu; dpm2-cdg

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM GARD ORPHANET MONDO UMLS

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U

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Other less relevant matches:

Low match TAKENOUCHI-KOSAKI SYNDROME; TKS

TAKENOUCHI-KOSAKI SYNDROME; TKS Is also known as macrothrombocytopenia and mental retardation syndrome;takenouchi-kosaki syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET UMLS OMIM MONDO

More info about TAKENOUCHI-KOSAKI SYNDROME; TKS

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:

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: MONDO OMIM DOID UMLS

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Low match SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

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.

SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE Is also known as scd-eds;eds, spondylocheirodysplastic type

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture


SOURCES: ORPHANET UMLS MONDO OMIM MESH

More info about SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

Low match LOEYS-DIETZ SYNDROME 3; LDS3

LOEYS-DIETZ SYNDROME 3; LDS3 Is also known as aneurysms-osteoarthritis syndrome, loeys-dietz syndrome with osteoarthritis, loeys-dietz syndrome, type 1c, formerly;lds1c, formerly;

Related symptoms:

  • Autosomal dominant inheritance
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Milia


SOURCES: UMLS GARD MONDO ORPHANET OMIM

More info about LOEYS-DIETZ SYNDROME 3; LDS3

Low match GERODERMA OSTEODYSPLASTICUM; GO

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 OSTEODYSPLASTICUM; GO Is also known as gerodermia osteodysplastica, walt disney dwarfism;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: SCTID MESH OMIM ORPHANET MONDO GARD UMLS

More info about GERODERMA OSTEODYSPLASTICUM; GO

Low match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

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).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Low match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Camptodactyly Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Hernia 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


Micrognathia Hearing impairment Scoliosis Global developmental delay Umbilical hernia Thin upper lip vermilion Pes planus Growth delay Microcephaly Downslanted palpebral fissures Autosomal dominant inheritance Sensorineural hearing impairment Short nose Thin skin Joint laxity Intellectual disability Arthrogryposis multiplex congenita Mandibular prognathia Congenital onset Generalized hypotonia Feeding difficulties Delayed speech and language development Ptosis

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Malar flattening Hypoplasia of the maxilla Edema Inguinal hernia Frontal bossing Midface retrusion Patent ductus arteriosus Bilateral sensorineural hearing impairment Cutis laxa Short stature Redundant skin Cognitive impairment Anteverted nares Osteoporosis Hyperextensible skin Milia Sparse hair Short metacarpal Bruising susceptibility Platyspondyly Camptodactyly of finger Osteopenia Irregular vertebral endplates Fine hair Sparse eyebrow Short phalanx of finger Abnormality of the outer ear Proptosis High forehead Micropenis Abnormality of the skeletal system Depressed nasal bridge Easy fatigability Respiratory distress Seizures Long face Abnormal facial shape Respiratory tract infection Fatigable weakness Decreased fetal movement Dysarthria Weak cry Asthenia Strabismus Wide nasal bridge Muscle weakness Gowers sign Abnormality of the genital system Wide mouth Streak ovary Prominent nose Myopia Syndactyly Talipes equinovarus Visual impairment Stooped posture Pseudoepiphyses Increased thyroid-stimulating hormone level Toe syndactyly Abnormality of the pinna Decreased serum estradiol Finger syndactyly Microtia Corneal opacity Biconcave vertebral bodies Decreased serum testosterone level Thin vermilion border Dry skin Anodontia Abnormality of skin pigmentation Underdeveloped nasal alae Hypoplasia of penis Heart block Abnormal bone ossification Periodontitis Abnormal spermatogenesis Pectus carinatum Recurrent fractures Microcornea Talipes Joint hyperflexibility Hip dislocation Deeply set eye Abnormality of the eye Abnormality of epiphysis morphology EEG abnormality Kyphoscoliosis Severe short stature Abnormal T-wave Muscular hypotonia Knee osteoarthritis Abnormal form of the vertebral bodies Bowing of the long bones Hyperextensibility of the finger joints Protuberant abdomen Premature skin wrinkling Ambiguous genitalia Decreased serum insulin-like growth factor 1 Beaking of vertebral bodies Vertebral compression fractures Progeroid facial appearance Prematurely aged appearance Congenital hip dislocation Femoral bowing Tibial bowing Progressive extrapyramidal movement disorder Abnormality of vision Hypoplasia of the fallopian tube Wormian bones Microdontia Hypertrichosis Insulin-resistant diabetes mellitus Hyperreflexia Dystonia Diarrhea Choreoathetosis Abnormality of metabolism/homeostasis Gait disturbance Tics Myocardial infarction Sparse scalp hair Peripheral neuropathy Long uvula Ventral hernia Hypoplasia of eyelid Microtia, third degree Ablepharon Absent hair Athetosis Babinski sign Abnormality of female external genitalia Mental deterioration Polyneuropathy Sensory neuropathy Triangular face Abnormality of movement Delayed puberty Prominent nasal bridge Protruding ear Primary amenorrhea Amenorrhea Abnormality of extrapyramidal motor function Hypothyroidism Hypogonadism Diabetes mellitus Alopecia Psychosis Cryptophthalmos Short upper lip Omphalocele Hypoplastic nipples Abnormality of finger Absent eyelashes Hypoplasia of the zygomatic bone Corneal erosion Shallow orbits Autoimmune thrombocytopenia Abnormality of the mouth Abnormal hair pattern Absent eyebrow Cutaneous syndactyly Short chin Ectropion Atresia of the external auditory canal Sacral dimple Decreased testicular size Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Absent nipple Conical tooth Abnormal nasal morphology Dehydration Hypergonadotropic hypogonadism Overbite Intervertebral disc degeneration Excessive wrinkled skin Hallucinations Hypogonadotrophic hypogonadism Flat occiput Purpura Hyperlipidemia Breast hypoplasia High-frequency hearing impairment Premature ovarian insufficiency Labial hypoplasia Aplasia/Hypoplasia of the nipples Uterine prolapse Pulmonic stenosis Chondritis Reduced visual acuity Lymphedema Ascites Highly arched eyebrow Retinal detachment Synophrys Short philtrum Thrombocytopenia Progressive microcephaly Cerebellar atrophy Ventriculomegaly Nystagmus Ataxia Primitive reflex Congenital contracture Myopathic facies Exotropia Hypoalbuminemia Trigonocephaly Brachydactyly Conductive hearing impairment Oxycephaly Clinodactyly Abnormality of the dentition Long philtrum Macrocephaly Cryptorchidism Abnormal intestine morphology Eversion of lateral third of lower eyelids Intestinal lymphangiectasia Increased mean platelet volume Macrothrombocytopenia Congenital nystagmus Retinal dysplasia Pericardial effusion Severe muscular hypotonia Postnatal microcephaly Short distal phalanx of finger Prominent occiput Dysphagia Infantile onset Skeletal muscle atrophy Nevus Motor delay Multiple joint contractures Poor suck Respiratory failure Narrow palpebral fissure Frequent falls Generalized muscle weakness Falls Apnea Neonatal hypotonia Respiratory insufficiency Fatigue Facial palsy Hypotelorism EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Generalized myoclonic seizures Death in infancy Cerebellar hypoplasia Elevated serum creatine phosphokinase Optic atrophy Decreased size of nerve terminals Type 2 muscle fiber atrophy Proximal muscle weakness Nonprogressive Decreased muscle mass Abnormality of the immune system Ophthalmoparesis Respiratory insufficiency due to muscle weakness Muscle cramps Limb muscle weakness Cleft lip Limb undergrowth Abdominal aortic aneurysm Mitral regurgitation Aortic aneurysm Aortic regurgitation Bicuspid aortic valve Atrial fibrillation Left ventricular hypertrophy Osteoarthritis Ventricular hypertrophy Abnormality of the vasculature Mitral valve prolapse Migraine Acrania Arachnodactyly Arthritis Headache Dilatation Disproportionate tall stature Back pain Pain Arterial tortuosity Dural ectasia Protrusio acetabuli Low back pain Thoracic aortic aneurysm Osteochondritis Dissecans Hip osteoarthritis Spondylolisthesis Abnormality of the sternum Subarachnoid hemorrhage Dilatation of the cerebral artery Soft skin Aortic dissection Striae distensae Abnormal joint morphology Slender finger Atrial septal defect Cleft palate Otitis media Mesomelia Otitis media with effusion Narrow naris Triangular mouth Generalized osteosclerosis Depressed nasal tip Thickened calvaria Chronic otitis media Skeletal dysplasia Short finger Oligodontia Increased bone mineral density Overgrowth Gingival overgrowth Dental crowding Broad thumb Failure to thrive Postnatal growth retardation Absent palmar crease Short femoral neck Moderately short stature Cigarette-paper scars Thenar muscle atrophy Flattened epiphysis Flat capital femoral epiphysis Broad femoral neck Prominent superficial veins Metaphyseal widening Tapered finger Joint contracture of the hand Abnormality of the metaphysis Blue sclerae Waddling gait Bifid uvula Hypodontia Delayed eruption of teeth Progressive alopecia



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Other signs and symptoms that you may find interesting

Feeding difficulties and Type I diabetes mellitus, related diseases and genetic alterations Melanoma and Decreased fetal movement, related diseases and genetic alterations Hydrocephalus and Low-set, posteriorly rotated ears, related diseases and genetic alterations Pain and Hypotrichosis, related diseases and genetic alterations