Flexion contracture, and Lymphedema

Diseases related with Flexion contracture and Lymphedema

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

Top matches:

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

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

Other less relevant matches:

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Low match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pain Intellectual disability Brachydactyly Strabismus Short neck Microcephaly Epicanthus Short stature Camptodactyly Global developmental delay Joint stiffness Micrognathia Cryptorchidism Syndactyly Edema Generalized hypotonia Dilatation Intrauterine growth retardation Hypertension Low-set ears

Rare Symptoms - Less than 30% cases

Decreased fetal movement Macrocephaly Osteoporosis Depressed nasal bridge Malignant hyperthermia Bone pain Intellectual disability, mild Nevus Short palm Recurrent fractures Hearing impairment Skeletal muscle atrophy Short finger Ventricular septal defect Hepatomegaly Anemia Increased susceptibility to fractures Pulmonary hypoplasia Hernia Cleft palate Subcutaneous nodule Visual impairment Tachypnea Depressivity Ptosis Single transverse palmar crease Downslanted palpebral fissures Hypertonia Atypical scarring of skin Short foot Scleroderma Scoliosis Hyperostosis Dermal atrophy Abnormal heart morphology Hemangioma Pectus excavatum Alopecia Skeletal dysplasia Joint hypermobility Myalgia Cerebellar hypoplasia Renal insufficiency Polymicrogyria Arthrogryposis multiplex congenita Arthritis Arthralgia Myopathy Fever Agenesis of corpus callosum Osteopoikilosis Microphthalmia Hypoplasia of the corpus callosum Long upper lip Cerebral atrophy Sinus tachycardia Mixed respiratory and metabolic acidosis Spasticity Posteriorly rotated ears Ventriculomegaly Optic atrophy Delayed speech and language development Hydrocephalus Abnormality of the sternum Congenital ptosis Metabolic acidosis Shock Lumbar hyperlordosis Hypotension Webbed neck Abnormal bleeding Muscle cramps Tachycardia Deep philtrum Lactic acidosis Limb muscle weakness Muscular dystrophy Pectus carinatum Stroke Hyperlordosis Ventricular arrhythmia Myotonia Diaphragmatic eventration Myoglobinuria Respiratory arrest Severe lactic acidosis Breech presentation Hyperphosphatemia Low hanging columella Thoracic kyphosis Scaphocephaly Ventricular fibrillation Acute kidney injury Rhabdomyolysis Abnormality of the nervous system Hyperkalemia Myopathic facies Abnormality of the coagulation cascade Deeply set eye Aplasia cutis congenita Muscular hypotonia of the trunk Hypoplasia of the maxilla Mild short stature Radial deviation of finger Increased intracranial pressure Abnormality of the genital system Generalized-onset seizure Round face Hypodontia Broad palm Cirrhosis Cleft upper lip Delayed puberty Pulmonic stenosis Hypermetropia Attention deficit hyperactivity disorder Interstitial pulmonary abnormality Macrocytic anemia Pes planus Broad philtrum Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Volvulus Shawl scrotum Large earlobe Widow's peak Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Joint laxity Umbilical hernia Protruding ear Small nail Cutis marmorata Cerebral palsy Narrow palpebral fissure Low anterior hairline Wide anterior fontanel Blue sclerae Oligohydramnios Corpus callosum atrophy Wide intermamillary distance Gliosis Retinal detachment Short distal phalanx of finger Bulbous nose Congenital cataract Rigidity Periventricular leukomalacia Abdominal pain Anteverted nares Hyperactivity Inguinal hernia Clinodactyly Obesity Short nose Behavioral abnormality Wide nasal bridge Aplasia cutis congenita of scalp Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Proximal muscle weakness Diarrhea Kyphoscoliosis Abnormality of the adrenal glands Chronic diarrhea Gingival overgrowth Hyperpigmentation of the skin Skin ulcer Recurrent bacterial infections Polycystic ovaries Urticaria Abnormality of dental morphology Steatorrhea Telangiectasia of the skin Abnormality of the musculature Osteomalacia Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thymus Micromelia Polyhydramnios Congenital diaphragmatic hernia Depressed nasal ridge Joint dislocation Pterygium Akinesia Vertebral fusion Cystic hygroma Thin ribs Meningocele Fetal akinesia sequence Multiple pterygia Hypoplastic heart Thickened skin Malabsorption Abnormal cervical curvature Subcutaneous calcification Abnormality of the skeletal system Abnormality of the foot Increased bone mineral density Cranial nerve paralysis Growth abnormality Joint swelling Abnormality of the vasculature Lower limb asymmetry Lack of skin elasticity Prominent superficial veins Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Ectopic ossification in muscle tissue Camptodactyly of finger Areflexia Respiratory failure Hirsutism Full cheeks Lissencephaly Centrally nucleated skeletal muscle fibers Hand clenching Agyria Muscular hypotonia Feeding difficulties Immunodeficiency Severe short stature Osteopenia Coarse facial features Amyoplasia Abnormality of the dentition Acidosis Abnormal intestine morphology Talipes equinovarus Vomiting Long philtrum Thrombocytopenia Patent ductus arteriosus Hypothyroidism Dyspnea Abnormal cardiac septum morphology Hepatic failure Ascites Cholestasis Large fontanelles Decreased liver function Hypoalbuminemia Pericardial lymphangiectasia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Muscle weakness High palate Kyphosis Malar flattening Midface retrusion Arrhythmia Elevated serum creatine phosphokinase Pes cavus Hyperhidrosis Cataract Pulmonary lymphangiectasia Craniosynostosis Abnormal bone structure Papule Palmoplantar keratoderma Abnormality of the metaphysis Abnormality of epiphysis morphology Hoarse voice Flat occiput Multiple lipomas Cutaneous finger syndactyly Generalized hypopigmentation Abnormal cortical bone morphology Generalized osteosclerosis Abnormal aortic morphology Generalized limb muscle atrophy Connective tissue nevi Irregular dentition Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Cognitive impairment Intellectual disability, severe Narrow mouth Blepharophimosis Microtia Flat face Decreased antibody level in blood Lymphopenia Hypoproteinemia Intestinal lymphangiectasia Erysipelas Cervical spine hypermobility


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