Flexion contracture, and Hip dislocation

Diseases related with Flexion contracture and Hip dislocation

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

Top matches:

Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Other less relevant matches:

In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013).The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009).Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. Krakowiak et al. (1997) provided a useful classification of the distal arthrogryposes. Genetic Heterogeneity of Distal ArthrogryposesDistal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (OMIM ), caused by mutation in the MYBPC1 gene (OMIM ) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, {601680}), caused by mutation in MYH3, the TNNT3 gene (OMIM ) on chromosome 11p15.5, the TNNI2 gene (OMIM ), also on 11p15.5, or TPM2 (OMIM ) on chromosome 9p13; DA3 (Gordon syndrome, {114300}) and DA5 (OMIM ), caused by mutation in the PIEZO2 gene (OMIM ) on chromosome 18p11; DA4 (OMIM ); DA5D (OMIM ), caused by mutation in the ECEL1 gene (OMIM ) on chromosome 2q36; DA6 (OMIM ); DA7 (OMIM ), caused by mutation in the MYH8 gene (OMIM ) on chromosome 17p13.1; DA8 (OMIM ), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13; DA9 (OMIM ), caused by mutation in the FBN2 gene (OMIM ) on chromosome 5q23-q31; and DA10 (OMIM ), which maps to chromosome 2q.See {277720} for discussion of a possible autosomal recessive form of DA2A. See {208155} for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, {253310}).

ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A Is also known as arthrogryposis multiplex congenita, distal, type i|da1|amcd1|arthrogryposis, distal, type 1

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE Is also known as scleroatonic muscular dystrophy|ullrich disease|ucmd

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, ULLRICH TYPE

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Low match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Top 5 symptoms//phenotypes associated to Flexion contracture and Hip dislocation

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Hip dislocation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Talipes equinovarus Camptodactyly Abnormal facial shape Talipes Hip dysplasia Elbow flexion contracture Congenital hip dislocation Knee flexion contracture Elevated serum creatine phosphokinase Global developmental delay

Rare Symptoms - Less than 30% cases

Torticollis Congenital muscular dystrophy Pes planus Abnormality of the foot Ankle contracture Metatarsus adductus Mild short stature Distal arthrogryposis Trismus Calcaneovalgus deformity Muscular dystrophy Decreased fetal movement Neonatal hypotonia Myopathy Cardiomyopathy Motor delay Adducted thumb Bilateral talipes equinovarus Seizures Increased endomysial connective tissue Respiratory failure Generalized muscle weakness Syndactyly Intellectual disability Microcephaly Hammertoe Intellectual disability, severe Macrocephaly Ptosis Micrognathia Short stature Camptodactyly of finger Abnormality of the mitochondrion Diaphragmatic paralysis Congenital muscular torticollis Limb-girdle muscle atrophy Necrotizing myopathy Plantar flexion contractures Pain Hearing impairment Sensorineural hearing impairment Limb-girdle muscle weakness Delayed speech and language development Wide nasal bridge Anteverted nares Midface retrusion Clinodactyly Clinodactyly of the 5th finger Prominent forehead Follicular hyperkeratosis Dysphagia Congenital contracture Proximal muscle weakness Failure to thrive Skeletal muscle atrophy Abnormality of the skeletal system Respiratory distress Hyperkeratosis Kyphoscoliosis Rigidity Protruding ear Limb-girdle muscular dystrophy Paralysis Scarring Distal muscle weakness Papule Abnormality of the cardiovascular system Progressive muscle weakness Hyperlordosis Respiratory insufficiency due to muscle weakness Genu valgum Broad forehead Gingival overgrowth Proptosis Skeletal dysplasia Platyspondyly Joint hypermobility Bifid uvula Hypertrichosis Mitral regurgitation Joint dislocation Malar flattening Aortic regurgitation Relative macrocephaly Aortic aneurysm Abnormality of the sternum Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Dilatation Ventriculomegaly Finger syndactyly Limited elbow extension Minicore myopathy Thin vermilion border Bilateral sensorineural hearing impairment Lumbar hyperlordosis Rhizomelia Finger clinodactyly Coxa vara Dislocated radial head Frontal bossing Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Downslanted palpebral fissures Mitochondrial depletion Ataxia Abnormal levels of creatine kinase in blood Overlapping fingers Intellectual disability, moderate Autism Intellectual disability, mild Rocker bottom foot Muscular hypotonia Hip contracture Spinal canal stenosis Hand clenching Joint contracture of the hand Ulnar deviation of the hand or of fingers of the hand Decreased hip abduction Ulnar deviation of the wrist Absent distal interphalangeal creases Stiff shoulders Short neck Kyphosis Autistic behavior Single transverse palmar crease Spastic diplegia Atypical absence seizures Feeding difficulties Mandibular prognathia Facial asymmetry Muscle cramps Limitation of joint mobility Cutaneous syndactyly Deep philtrum Knee dislocation Narrow mouth Short finger Abnormality of the musculature Microretrognathia Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Absence seizures Tall chin Cryptorchidism Abnormality of brain morphology Cerebral palsy Left ventricular noncompaction Webbed neck Congestive heart failure Arrhythmia Hyperreflexia Facial palsy Abnormal cardiac septum morphology Spasticity Dilated cardiomyopathy Radioulnar synostosis Hypertonia Nystagmus Calf muscle hypertrophy Myopathic facies Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Difficulty running Cleft soft palate Atrial septal defect Ventricular septal defect Esotropia Spinal rigidity Spastic tetraplegia Frequent falls Paraplegia Abnormal palate morphology EMG: myopathic abnormalities Increased variability in muscle fiber diameter Generalized amyotrophy Slender finger Babinski sign Long toe Pes valgus Diaphragmatic weakness Abnormality of muscle fibers Abnormality of movement Increased laxity of fingers Hyperextensibility at wrists Spastic paraplegia Cervical spine instability


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