Flexion contracture, and Weight loss

Diseases related with Flexion contracture and Weight loss

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

Top matches:

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

Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.

AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY Is also known as autosomal dominant benign distal spinal muscular atrophy|spinal muscular atrophy, distal, congenital nonprogressive|dhmn8|neuropathy, distal hereditary motor, type viii|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Other less relevant matches:

Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Low match MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Top 5 symptoms//phenotypes associated to Flexion contracture and Weight loss

Symptoms // Phenotype % cases
Cachexia Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Weight loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arthritis Downturned corners of mouth Hearing impairment Scoliosis Global developmental delay Edema Diarrhea Limitation of joint mobility Malabsorption Intellectual disability Arthrogryposis multiplex congenita Muscle weakness

Rare Symptoms - Less than 30% cases

Pain Hypotelorism Vomiting Talipes equinovarus Inflammatory abnormality of the skin Brachydactyly Hypoplasia of the maxilla Hypovolemia Contractures of the joints of the lower limbs Alopecia Xerostomia Abnormality of the upper urinary tract Ketonuria Slender long bone Renal tubular dysfunction Gait disturbance Abdominal pain Glycosuria Osteolysis Kyphoscoliosis Skeletal muscle atrophy Nausea and vomiting Papule Osteopenia Proptosis Autoimmunity Rheumatoid arthritis Myalgia Scleroderma Osteolytic defects of the phalanges of the hand Fever Micrognathia Prominent metopic ridge Autoimmune antibody positivity Proteinuria Respiratory insufficiency Elevated serum creatine phosphokinase Hypertension EMG abnormality Intrauterine growth retardation Abnormal heart morphology Peripheral axonal neuropathy Retinopathy Pulmonary infiltrates Abnormality of the skin Generalized tonic-clonic seizures Kyphosis Coma Pes cavus Apraxia Neurodevelopmental delay Limb muscle weakness Hyperglycemia Bilateral ptosis Renal insufficiency Dehydration Talipes Hyperlordosis Generalized myoclonic seizures Decreased fetal movement Congestive heart failure Maternal diabetes Transient neonatal diabetes mellitus Narrow foramen obturatorium Abnormal bowel sounds Diabetes mellitus Dyspareunia Oliguria Steatorrhea Insulin resistance Ataxia Intellectual disability, severe Seizures Reduced pancreatic beta cells Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Microalbuminuria Hypertensive crisis Abnormality of the pancreatic islet cells Decreased urine output Hypermetropia Elevated hemoglobin A1c Abnormality of epiphysis morphology Thin calvarium Wide nasal bridge Polyhydramnios Telecanthus Camptodactyly of finger Corneal opacity Pulmonic stenosis Stage 5 chronic kidney disease Nephropathy Triangular face Interphalangeal joint contracture of finger Elevated alkaline phosphatase Increased thyroid-stimulating hormone level Abnormality of the wrist Juvenile rheumatoid arthritis Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Azotemia Hypertensive retinopathy Ankle swelling Doll-like facies Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Wrist swelling Narrow philtrum Shallow orbits Hypertelorism Delayed eruption of teeth Sensorineural hearing impairment Microphthalmia Midface retrusion Delayed skeletal maturation Osteoporosis Hyperkeratosis Retrognathia Sparse hair Scarring Prominent nasal bridge Thin vermilion border Recurrent fractures Narrow nose Fine hair Thin skin Wormian bones Growth abnormality Dermal atrophy Pterygium Flat occiput Delayed cranial suture closure Long nose Lipoatrophy Prematurely aged appearance Striae distensae Telangiectasia of the skin Metaphyseal irregularity Pulmonary fibrosis Bilateral talipes equinovarus Distal amyotrophy Waddling gait Lumbar hyperlordosis Elbow flexion contracture Knee flexion contracture Scapular winging Laryngomalacia Dysphonia Spinal muscular atrophy Stridor Hip contracture Distal muscle weakness Motor axonal neuropathy Areflexia of lower limbs Proximal lower limb amyotrophy Vocal cord paresis Nonprogressive muscular atrophy Short stature Short neck Severe short stature Hypothyroidism Nail dystrophy Platyspondyly Lower limb muscle weakness Paralysis Nausea Respiratory insufficiency due to muscle weakness Growth delay Feeding difficulties Myopathy Arrhythmia Muscular dystrophy Narrow chest Abnormality of the foot Joint hyperflexibility Myocardial infarction Severe muscular hypotonia Poor head control Joint stiffness Congenital muscular dystrophy Generalized amyotrophy Spinal rigidity Neck muscle weakness Limb-girdle muscle weakness Axial muscle weakness Peripheral neuropathy Areflexia Hyporeflexia Pes planus Proximal muscle weakness Genu valgum Postural instability Skin ulcer Hypochromic microcytic anemia Cough Bone pain Increased bone mineral density Increased susceptibility to fractures Generalized hypotonia Acne Leukocytosis Glomerulopathy Pustule Microscopic hematuria Synovitis Splenomegaly Congenital hypoplastic anemia Abnormality of bone marrow cell morphology Chronic recurrent multifocal osteomyelitis Abnormal inflammatory response Dysphagia Constipation Dyspnea Gastroesophageal reflux Carious teeth Pulmonary arterial hypertension Telangiectasia Headache Hepatomegaly Bowing of the long bones Skin rash Chronic diarrhea Abnormal intestine morphology Malnutrition Thoracic kyphosis Thoracolumbar scoliosis Protein-losing enteropathy Mucopolysacchariduria Stiff neck Peripheral edema Intestinal polyp Camptodactyly Chest pain Pleuritis Asthma Ventricular hypertrophy Nephrolithiasis Blurred vision Elevated erythrocyte sedimentation rate Keratoconjunctivitis sicca Pericarditis Episodic fever Uveitis Episodic abdominal pain Oral ulcer Osteolysis involving tarsal bones


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