Flexion contracture, and Osteoporosis

Diseases related with Flexion contracture and Osteoporosis

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

Top matches:

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15 Is also known as metaphyseal fracture, susceptibility to|osteoporosis, susceptibility to|compression fracture, susceptibility to

Related symptoms:

  • Osteoporosis


SOURCES: OMIM MENDELIAN

More info about BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15

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

Low match BRUCK SYNDROME

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRUCK SYNDROME

Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck SyndromeBruck syndrome-2 (OMIM ) is caused by homozygous mutation in the PLOD2 gene (OMIM ) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.

BRUCK SYNDROME 1; BRKS1 Is also known as arthrogryposis-like disorder|kuskokwim disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about BRUCK SYNDROME 1; BRKS1

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Osteoporosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Joint stiffness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Severe short stature Platyspondyly Elbow flexion contracture Camptodactyly

Rare Symptoms - Less than 30% cases

Cleft palate Gait disturbance Camptodactyly of finger Difficulty walking Skeletal dysplasia Kyphoscoliosis Waddling gait Increased susceptibility to fractures Multiple joint contractures Pain Bilateral talipes equinovarus Coxa vara Pterygium Knee flexion contracture Wormian bones Recurrent fractures Arthrogryposis multiplex congenita Pectus carinatum Respiratory insufficiency Hypertelorism Talipes equinovarus Osteolysis Arthropathy Coarse facial features Arthritis Subcutaneous nodule Gingival overgrowth Rheumatoid arthritis Cardiac arrest Skin ulcer Abnormality of the hair Chronic diarrhea Myopathy Macroglossia Palpitations Dilated cardiomyopathy Thickened skin Broad-based gait Scapular winging Growth abnormality Muscular dystrophy Arrhythmia Progressive flexion contractures Elevated serum creatine phosphokinase Limb-girdle muscular dystrophy Edema Cardiomyopathy Dysphagia Myalgia Delayed speech and language development Hypertrophic cardiomyopathy Distal muscle weakness Intractable diarrhea Abnormal diaphysis morphology Gingival fibromatosis Abnormality of the gastrointestinal tract Severe failure to thrive Abnormality of the skull Aplasia/Hypoplasia of the skin Proximal muscle weakness Achilles tendon contracture Gowers sign Abnormality of skin pigmentation Ptosis Low-set ears Epicanthus Brachydactyly Abnormality of the skeletal system Malar flattening Syndactyly Midface retrusion Clinodactyly Telecanthus Coloboma Iris coloboma Protrusio acetabuli Short toe Anal stenosis Fibroma Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Vertebral wedging Dentinogenesis imperfecta Increased variability in muscle fiber diameter Pelvic girdle muscle atrophy Calf muscle hypertrophy Myopathic facies Myoglobinuria Proximal amyotrophy Limb-girdle muscle weakness Papule Axial muscle weakness Pelvic girdle muscle weakness Shoulder girdle muscle atrophy Tip-toe gait Calf muscle pseudohypertrophy Reduced muscle fiber beta sarcoglycan Abnormality of the lower limb Hearing impairment Joint laxity Hyperlordosis Talipes Blue sclerae Abnormal lung morphology Torticollis Congenital contracture Limited elbow extension Restrictive ventilatory defect Hip contracture Ankle contracture Abnormality of the face Spondyloepiphyseal dysplasia Recurrent infections Delayed puberty Diffuse cerebellar atrophy Cryptorchidism Depressed nasal bridge Abnormality of the dentition Depressivity Delayed skeletal maturation Micropenis Anxiety Wide intermamillary distance Opisthotonus Decreased testicular size Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Impotence Hypoplasia of the uterus Progressive spastic quadriplegia Intellectual disability, progressive Secondary amenorrhea Microcephaly Corneal opacity Generalized osteoporosis Osteolysis involving bones of the feet Osteolysis involving bones of the upper limbs Intellectual disability Seizures Global developmental delay Generalized hypotonia Spasticity Progressive microcephaly Hypoplasia of the corpus callosum Cerebellar atrophy Cerebral atrophy Neonatal hypotonia Irritability Tetraplegia Generalized myoclonic seizures Spastic tetraplegia Intellectual disability, profound Sparse body hair Generalized joint laxity Diarrhea Enlarged epiphyses Genu varum Metaphyseal widening Joint swelling Juvenile rheumatoid arthritis Abnormality of the knee Synovitis Flattened epiphysis Methylmalonic acidemia Sclerotic vertebral endplates Abnormal form of the vertebral bodies Decreased cervical spine mobility Enlarged interphalangeal joints Enlargement of the proximal femoral epiphysis Morbus Scheuermann Enlarged metacarpophalangeal joints Neoplasm Failure to thrive Skeletal muscle atrophy Respiratory distress Short long bone Osteoarthritis Male hypogonadism Abnormality of body height Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Increased female libido Interphalangeal joint contracture of finger Hernia Inguinal hernia Triangular face Bowing of the long bones Femoral bowing Hydroxyprolinuria Muscle weakness Arthralgia Abnormality of the foot Localized osteoporosis


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