Edema, and Webbed neck

Diseases related with Edema and Webbed neck

In the following list you will find some of the most common rare diseases related to Edema and Webbed neck that can help you solving undiagnosed cases.

Top matches:

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Other less relevant matches:

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

LYMPHEDEMA-DISTICHIASIS SYNDROME Is also known as lymphedema with distichiasis

Related symptoms:

  • Muscle weakness
  • Cleft palate
  • Pain
  • Cataract
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHEDEMA-DISTICHIASIS SYNDROME

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

Top 5 symptoms//phenotypes associated to Edema and Webbed neck

Symptoms // Phenotype % cases
Epicanthus Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Webbed neck. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Micrognathia Downslanted palpebral fissures Lymphedema Short neck Scoliosis Seizures Generalized hypotonia Macrocephaly Fever Cryptorchidism Cellulitis Hearing impairment Depressed nasal bridge Leukemia Flexion contracture Polyhydramnios Arthrogryposis multiplex congenita

Rare Symptoms - Less than 30% cases

Bruising susceptibility High palate Abnormal facial shape Cataract Hemolytic anemia Pectus excavatum Atrial septal defect Splenomegaly Pericardial effusion Anemia Talipes equinovarus Curly hair Relative macrocephaly Strabismus Lissencephaly Arrhythmia Failure to thrive Respiratory insufficiency Abnormality of the sternum Pleural effusion Short nose Growth hormone deficiency Patent ductus arteriosus Chylothorax Large fontanelles Muscle weakness Hypotelorism Microcephaly Retrognathia Varicose veins Polymicrogyria Cleft palate Low posterior hairline Respiratory distress Pulmonic stenosis Hyperkeratosis Growth delay Sensorineural hearing impairment Delayed speech and language development Wide nasal bridge Cardiomyopathy Abnormal heart morphology Abnormality of the ribs Hypertrophic cardiomyopathy Pulmonary hypoplasia Short thorax Enlarged kidney Low hanging columella Tracheomalacia Protuberant abdomen Vertebral segmentation defect Thoracic hypoplasia Hammertoe Bell-shaped thorax Renal dysplasia Hyperphosphatemia Depressed nasal ridge Small nail Oligohydramnios Renal cyst Multiple renal cysts Thoracic kyphosis Intrauterine growth retardation Abnormal vertebral segmentation and fusion Lumbosacral meningocele Abnormal liver lobulation Nephrogenic rest Unossified vertebral bodies Nephroblastomatosis Absent or minimally ossified vertebral bodies Narrow pelvis bone Myelomeningocele Increased nuchal translucency Enlarged thorax Cystic renal dysplasia Disproportionate short-trunk short stature Hypoplastic fingernail Missing ribs Inguinal hernia Breech presentation Cerebellar hypoplasia Hypermetropia Apraxia Clinodactyly Sinus tachycardia Dandy-Walker malformation Abnormality of the foot Abnormality of eye movement Long upper lip Absent speech Camptodactyly Micropenis Upslanted palpebral fissure Posteriorly rotated ears Congenital ptosis Diaphragmatic eventration Heterotopia Oculomotor apraxia Muscular hypotonia Overlapping fingers Severe lactic acidosis Kinked brainstem Respiratory arrest Unossified sacrum Hand clenching Cerebellar dysplasia Cystic hygroma Plagiocephaly Overlapping toe Hypoplasia of the brainstem Adducted thumb Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Absent in utero rib ossification Pain Absent in utero ossification of vertebral bodies Dilatation Acidosis Hyperhidrosis Pes cavus Ventricular arrhythmia Elevated serum creatine phosphokinase Midface retrusion Malar flattening Rigidity Renal insufficiency Kyphosis Deep philtrum Hypertonia Myopathy Myotonia Kyphoscoliosis Proximal muscle weakness Spinalarachnoid cyst Limb muscle weakness Abnormal bleeding Metabolic acidosis Hypotension Joint hypermobility Tachycardia Lactic acidosis Decreased fetal movement Myalgia Lumbar hyperlordosis Shock Muscular dystrophy Pectus carinatum Stroke Tachypnea Hyperlordosis Lipedema Abnormality of the pulmonary vasculature Intralobar nephroblastomatosis Diabetes mellitus Cleft upper lip Paresthesia Abnormality of the liver Proteinuria Anxiety Photophobia Hypogonadism Telangiectasia Acute kidney injury Obesity Scaphocephaly Abnormality of cardiovascular system morphology Muscle cramps Myoglobinuria Malignant hyperthermia Recurrent urinary tract infections Gynecomastia Ventricular fibrillation Distichiasis Predominantly lower limb lymphedema Abnormality of the coagulation cascade Knee pain Renal duplication Myopathic facies Hyperkalemia Venous insufficiency Conjunctivitis Corneal erosion Tubulointerstitial nephritis Overweight Glomerulopathy Rhabdomyolysis Ectropion Recurrent skin infections Fibrosarcoma Mutism Behavioral abnormality Intestinal lymphangiectasia Ventricular septal defect Cognitive impairment Genital edema Pulmonary lymphangiectasia Prune belly Facial edema Stomatocytosis Abnormality of the cardiovascular system Periorbital edema Spherocytosis Generalized edema Nonimmune hydrops fetalis Hydrocele testis Deep venous thrombosis Cupped ear Abnormal cardiac septum morphology Ventricular hypertrophy Ascites Fatigue Visual loss Thrombocytopenia Recurrent infections Immunodeficiency Syndactyly Cerebellar atrophy Hepatomegaly Left ventricular hypertrophy Neoplasm Palmoplantar cutis laxa Graves disease Acute lymphoblastic leukemia Systemic lupus erythematosus Hyperextensible skin Hyperpigmentation of the skin Hydrops fetalis Gastroesophageal reflux Respiratory failure Spinal muscular atrophy Fetal akinesia sequence Abnormality of the elbow Slender long bone Abnormality of the hip bone Multiple joint contractures Akinesia Congenital contracture Amniotic constriction ring Abnormality of the thorax Pterygium Abnormal form of the vertebral bodies Limitation of joint mobility Recurrent fractures Low-set, posteriorly rotated ears Skeletal muscle atrophy Abnormal cortical bone morphology Hypoplasia of the musculature Hypothyroidism Broad forehead Juvenile myelomonocytic leukemia Long eyebrows Asymmetry of the thorax Broad neck Bilateral ptosis Cafe-au-lait spot Sparse hair Abnormality of the amniotic fluid High forehead Intellectual disability, mild Myopia Motor delay Paucity of anterior horn motor neurons Widening of cervical spinal canal Abnormality of the spinal cord Recurrent respiratory infections Weight loss Hydrocephalus Pointed chin Long nose Dysphasia Aphasia Delayed cranial suture closure Hydroureter Trigonocephaly Pachygyria Prominent metopic ridge Specific learning disability Prominent nose Full cheeks Microcornea Highly arched eyebrow Iris coloboma Wide nose Long palpebral fissure Palpebral edema Wide mouth Duplication of thumb phalanx Anteverted nares Ventriculomegaly Euryblepharon Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Macrogyria Transient ischemic attack Subcortical cerebral atrophy Abnormality of the upper urinary tract Optic nerve coloboma Echolalia Heterochromia iridis Depressed nasal tip Short columella Thin vermilion border Joint stiffness Pallor Migraine Chronic otitis media Myelodysplasia Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Pancytopenia Tapered finger Prolonged bleeding time Hematuria Cirrhosis Lymphadenopathy Vertigo Nausea and vomiting Neurological speech impairment Scarring Leukocytosis Myeloid leukemia Telecanthus Abnormal neutrophil count Hydronephrosis Coarse facial features Skeletal dysplasia Cerebral cortical atrophy Long philtrum Feeding difficulties Macronodular cirrhosis Acute myeloid leukemia Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Mixed respiratory and metabolic acidosis


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