Flexion contracture, and Joint hypermobility

Diseases related with Flexion contracture and Joint hypermobility

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

Top matches:

Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Other less relevant matches:

NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

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

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Top 5 symptoms//phenotypes associated to Flexion contracture and Joint hypermobility

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Spinal rigidity Narrow mouth Adducted thumb Generalized joint laxity Myopathy Scoliosis Talipes equinovarus High palate Congenital muscular dystrophy Respiratory insufficiency Muscular dystrophy Growth delay

Rare Symptoms - Less than 30% cases

Joint laxity Strabismus Increased variability in muscle fiber diameter EMG: myopathic abnormalities Telecanthus Depressivity Arthralgia Pes planus Joint dislocation Frontal bossing Generalized muscle weakness Respiratory failure Delayed puberty Overweight Micrognathia Abnormal facial shape Breast hypoplasia Mitral regurgitation Cryptorchidism Downslanted palpebral fissures Delayed skeletal maturation Hip dislocation Intellectual disability Elevated serum creatine phosphokinase Decreased fetal movement Microcephaly Failure to thrive Delayed gross motor development Delayed speech and language development Limb muscle weakness Talipes Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Neck muscle weakness Generalized amyotrophy Pes valgus Poor head control Gastroesophageal reflux Abnormal elasticity of skin Seizures Platyspondyly Dilatation Ptosis Ventriculomegaly Proptosis Gastrostomy tube feeding in infancy Skeletal dysplasia Spasticity Macrocephaly Malar flattening Upslanted palpebral fissure Aplasia of the inferior half of the cerebellar vermis Atrial septal defect Thin upper lip vermilion Agenesis of corpus callosum Abnormal heart morphology Clinodactyly Short philtrum Abnormality of digit Ventricular septal defect Small cerebral cortex Curly hair Delayed ability to walk Wide nasal bridge Posteriorly rotated ears Epicanthus Mild microcephaly Periventricular leukomalacia Bifid uvula Dolichocephaly Hypertrichosis Protruding ear Birth length less than 3rd percentile Pain Long philtrum Cerebral atrophy Midface retrusion Hernia Inguinal hernia Brachycephaly Myalgia Scarring Aplasia/Hypoplasia of the patella Arachnodactyly Bruising susceptibility Mitral valve prolapse Blue sclerae Dental crowding Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Fragile skin Facial hypotonia Bronchomalacia Patellar aplasia Gingival overgrowth Abnormality of the pinna Aortic regurgitation Relative macrocephaly Aortic aneurysm Abnormality of the sternum Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Cervical spine instability Intrauterine growth retardation Postnatal growth retardation Labial hypoplasia Microtia Follicular hyperkeratosis Smooth philtrum Underdeveloped nasal alae Clitoral hypertrophy Emphysema High pitched voice Slender long bone Tracheomalacia Hypoplastic labia majora Minicore myopathy Elbow flexion contracture Centrally nucleated skeletal muscle fibers Mood swings Aggressive behavior Intellectual disability, moderate Camptodactyly of finger Skin rash High myopia Interphalangeal joint contracture of finger Emotional lability Limited elbow extension Stuttering Fever Hypersexuality Tryptophanuria Head-banging Cleft palate Depressed nasal bridge Abnormality of the dentition Osteoporosis Micropenis Osteopenia Behavioral abnormality Myopia Wide intermamillary distance Hyperlordosis Areflexia Kyphoscoliosis Facial palsy Muscular hypotonia Skeletal muscle atrophy Gait disturbance Congestive heart failure Arrhythmia Narrow chest Visual impairment Abnormality of the foot Joint hyperflexibility Limitation of joint mobility Myocardial infarction EMG abnormality Cachexia Limb-girdle muscle weakness Axial muscle weakness Sensorineural hearing impairment Anxiety Decreased testicular size Weak cry Increased endomysial connective tissue Frequent falls Knee flexion contracture Torticollis Abnormal palate morphology Slender finger Long toe Diaphragmatic weakness Abnormality of muscle fibers Increased laxity of fingers Kyphosis Hyperextensibility at wrists Pectus excavatum Recurrent respiratory infections Hyperkeratosis Neonatal hypotonia Dry skin Congenital contracture Multiple joint contractures Mildly elevated creatine phosphokinase Esotropia Short neck Primary amenorrhea Secondary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Impotence Hypoplasia of the uterus Sparse body hair Male hypogonadism Increased female libido Decreased serum testosterone level Absence of secondary sex characteristics Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Hypoplasia of the musculature


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