Flexion contracture, and Telangiectasia

Diseases related with Flexion contracture and Telangiectasia

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

Top matches:

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma

Related symptoms:

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation


SOURCES: ORPHANET MENDELIAN

More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Other less relevant matches:

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

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005).For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (OMIM ).

PEELING SKIN SYNDROME 2; PSS2 Is also known as acral peeling skin syndrome|peeling skin syndrome, acral type|apss

Related symptoms:

  • Hyperhidrosis
  • Erythema
  • Scarring
  • Pruritus
  • Abnormal blistering of the skin


SOURCES: OMIM MENDELIAN

More info about PEELING SKIN SYNDROME 2; PSS2

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

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

Symptoms // Phenotype % cases
Dysphagia Uncommon - Between 30% and 50% cases
Poikiloderma Uncommon - Between 30% and 50% cases
Cutaneous photosensitivity Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Telangiectasia of the skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pulmonary fibrosis Scleroderma Muscle weakness Abnormality of the skin Skin ulcer Abnormality of skin pigmentation

Rare Symptoms - Less than 30% cases

Scarring Congestive heart failure Polycystic ovaries Immunodeficiency Delayed puberty Camptodactyly of finger Hyperhidrosis Hypopigmentation of the skin Osteopenia Erythema Osteoporosis Abnormal blistering of the skin Dyspnea Carious teeth Pruritus Malabsorption Gastroesophageal reflux Scoliosis Papule Cataract Pulmonary arterial hypertension Ichthyosis Intellectual disability Narrow foramen obturatorium Joint contracture of the hand Raynaud phenomenon Autoimmunity Nausea and vomiting Syndactyly Thyroid hemiagenesis Amenorrhea Primary testicular failure Corneal opacity Puberty and gonadal disorders Myofiber disarray Aplasia of the phalanges of the 3rd toe Anemia Convex nasal ridge Full cheeks Testicular dysgenesis Wide nose Carcinoma Hyperkeratosis Scaling skin Sclerodactyly Ventricular tachycardia Lipodystrophy Thoracic scoliosis Precocious puberty Short chin Bilateral ptosis Premature ovarian insufficiency Spontaneous abortion Hypergonadotropic hypogonadism Tricuspid regurgitation Increased bone mineral density Abnormality of the genital system Secondary amenorrhea Short clavicles Wide nasal base Down-sloping shoulders Abnormality of the testis Sparse pubic hair Elevated circulating follicle stimulating hormone level Abnormality of the ovary Mitral regurgitation Elevated circulating luteinizing hormone level Poor wound healing Atrial fibrillation Cardiomegaly Bilateral cryptorchidism Recurrent skin infections Finger syndactyly Eczematoid dermatitis Abnormal toenail morphology Corneal erosion Short 4th metacarpal Amniotic constriction ring Ridged nail Short 5th metacarpal Ankyloglossia Premature loss of primary teeth Cheilitis Esophageal stricture Overbite Abnormality of the anus Periodontitis Laryngeal stenosis Urethral stricture Spotty hypopigmentation Phimosis Spotty hyperpigmentation Severe photosensitivity Symblepharon Overjet Diffuse skin atrophy Acral blistering Telangiectases in sun-exposed and nonexposed skin Esophagitis Gingivitis Nail dystrophy Ectropion Dry skin Palmoplantar keratoderma Eczema Abnormality of the ribs Inflammatory abnormality of the skin Abnormality of dental enamel Conjunctivitis Palmoplantar hyperkeratosis Arachnodactyly Dermal atrophy Abnormality of the hand Inflammation of the large intestine Atypical scarring of skin Squamous cell carcinoma Milia Atrophic scars Colitis Skin vesicle Aplasia/Hypoplasia of the skin Fragile skin Cutaneous finger syndactyly Gingival bleeding Turricephaly Abnormality of the skull Tachycardia Abnormality of dental morphology Dilated cardiomyopathy Osteolysis Conjunctival telangiectasia Pain Hypertension Vomiting Diarrhea Renal insufficiency Constipation Weight loss Arthralgia Arthritis Xerostomia Progressive muscle weakness Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Abnormal bowel sounds Hepatomegaly Skeletal muscle atrophy Gait disturbance Progressive sensorineural hearing impairment Neurodegeneration Obesity Freckling Hypopigmented skin patches Mucosal telangiectasiae Contractures involving the joints of the feet Neoplasm Congenital cataract Asthma Neoplasm of the skin Brittle hair Erythroderma Decreased fertility Congenital nonbullous ichthyosiform erythroderma Unsteady gait Tiger tail banding Global developmental delay Hearing impairment Microcephaly Ataxia Sensorineural hearing impairment Dysarthria Cerebellar atrophy Pes cavus Photophobia Mental deterioration Myopathy Elevated serum creatine phosphokinase Microtia Abnormality of the adrenal glands Gingival overgrowth Lymphedema Hyperpigmentation of the skin Recurrent bacterial infections Increased susceptibility to fractures Urticaria Steatorrhea Abnormality of the musculature Osteomalacia Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thymus Thickened skin Cryptorchidism Ptosis Wide nasal bridge Abnormality of the skeletal system Cardiomyopathy Intellectual disability, mild Arrhythmia Hypogonadism Micropenis Retrognathia Chronic diarrhea Subcutaneous nodule Alopecia Mottled pigmentation Pneumonia Nail dysplasia Fine hair Hypohidrosis Clubbing Truncal obesity Achilles tendon contracture Heat intolerance Thin eyebrow Erysipelas Growth delay Recurrent fractures Failure to thrive Muscular hypotonia Feeding difficulties Brachydactyly Macrocephaly Short neck Severe short stature Coarse facial features Joint stiffness Micromelia Short palm Neoplasm of the urethra


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