Edema, and Hypotelorism

Diseases related with Edema and Hypotelorism

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

Top matches:

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

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

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

Other less relevant matches:

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE 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

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Top 5 symptoms//phenotypes associated to Edema and Hypotelorism

Symptoms // Phenotype % cases
Epicanthus Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Strabismus Flexion contracture Upslanted palpebral fissure Abnormality of the dentition Generalized hypotonia Camptodactyly Intellectual disability Seizures Hearing impairment Microcephaly Blepharophimosis Short stature Depressed nasal bridge Syndactyly Low-set ears Ptosis Micropenis Cleft palate Respiratory distress Sensorineural hearing impairment Microphthalmia Midface retrusion Short nose Absent speech Sparse hair Hyperreflexia Scarring Visual impairment Lymphedema Cognitive impairment Spasticity Adducted thumb Fine hair Anemia Cerebellar hypoplasia Ataxia Myopia Anteverted nares Abnormality of the fingernails Finger syndactyly Renal insufficiency Abnormality of the kidney

Rare Symptoms - Less than 30% cases

Abnormality of eye movement Fatigue Hypertension Lissencephaly Heterotopia Mandibular prognathia Abnormality of the pinna Dandy-Walker malformation Abnormality of the foot Pain Protruding ear Narrow nasal bridge Vesicoureteral reflux Renal agenesis Renal hypoplasia Recurrent urinary tract infections Behavioral abnormality Hydrocephalus Abnormality of the nail Ventriculomegaly Talipes equinovarus Hypoplasia of the brainstem Macrocephaly High palate Cutaneous syndactyly Clinodactyly Feeding difficulties Hand clenching Glaucoma Narrow nasal ridge Muscle weakness Dysarthria Gait disturbance Ventricular septal defect Atrial septal defect Clinodactyly of the 5th finger High forehead Small nail Umbilical hernia Hypertrophic cardiomyopathy Carious teeth Flat face Microdontia Abnormal form of the vertebral bodies Abnormality of dental enamel High hypermetropia Periorbital edema Hypsarrhythmia Nystagmus Hypothyroidism Muscular hypotonia Delayed speech and language development Intrauterine growth retardation Optic atrophy Hypertonia Hernia Cerebral cortical atrophy Macrotia Narrow forehead Gastroesophageal reflux Proteinuria Abnormality of the eye Irritability Wide mouth Camptodactyly of finger Small for gestational age Sleep disturbance Chronic otitis media Hyperhidrosis Webbed neck Flat occiput Visual loss Paralysis Splenomegaly Cerebellar atrophy Paresthesia Postural instability Depressivity Hoarse voice Narrow face Hepatomegaly Narrow nose Prematurely aged appearance Abnormality of the skin Neurological speech impairment Delayed eruption of teeth Hypermetropia Prominent nasal bridge Retrognathia Osteopenia Kyphoscoliosis Osteoporosis Delayed skeletal maturation Respiratory insufficiency Brachydactyly Abnormality of the skeletal system Scoliosis Recurrent respiratory infections Narrow palpebral fissure Nausea and vomiting Deeply set eye Hematuria Hemiparesis Myocardial infarction Optic nerve dysplasia Thick lower lip vermilion Ventricular hypertrophy Type II diabetes mellitus Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Recurrent otitis media Dehydration Otitis media Esotropia Dental malocclusion Chest pain Sudden cardiac death Full cheeks Macroglossia Hyperintensity of cerebral white matter on MRI Broad nasal tip Hypodontia Everted lower lip vermilion Thick vermilion border Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Abnormal intestine morphology Premature loss of primary teeth Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Nephrocalcinosis Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Trichorrhexis nodosa Broad columella Increased body weight Selective tooth agenesis Increased bone mineral density Pseudohypoparathyroidism Aortic valve stenosis Cranial hyperostosis Abnormal diaphysis morphology Polyhydramnios Gingival overgrowth Amblyopia Nephrolithiasis Hepatosplenomegaly Synophrys Involuntary movements Mitral regurgitation Open mouth Progressive spastic paraparesis Broad alveolar ridges Madelung deformity Oral cleft 3-4 toe syndactyly Protein-losing enteropathy Elevated serum creatine phosphokinase Joint laxity Anxiety Pes planus Fetal distress Coarse facial features Arthralgia Failure to thrive Autism Cryptorchidism Abdominal pain Diabetes mellitus Constipation Wide nasal bridge Wide anterior fontanel Tremor Hyperbilirubinemia Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Obesity Reticulocytosis Malar flattening Long philtrum Kyphosis Intellectual disability, mild Myopathy Growth delay Thin anteverted nares Congestive heart failure Cardiomyopathy Dysmetria Tooth abscess Smooth philtrum Joint hyperflexibility Genu valgum Malabsorption Pulmonic stenosis Corneal opacity Broad forehead Abnormality iris morphology Facial edema Stroke Attention deficit hyperactivity disorder Atrophy/Degeneration involving the corticospinal tracts Cleft lip 4-5 finger syndactyly Abnormal cardiac septum morphology Craniosynostosis Joint stiffness Vertebral hyperostosis Hypospadias Autistic behavior Hydrops fetalis Hyperlordosis Developmental regression Feeding difficulties in infancy Low-set, posteriorly rotated ears Intellectual disability, moderate Progressive hearing impairment Reduced bone mineral density Widely spaced teeth Tubulointerstitial nephritis Gait imbalance Abnormality of refraction Cerebral ischemia Renal artery stenosis Dyslexia Coronary artery stenosis Villous atrophy Enuresis Retinal arteriolar tortuosity Abnormality of the cerebral vasculature Hyperacusis Abnormality of the neck Large earlobe Right ventricular hypertrophy Decreased plasma carnitine Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Periorbital fullness Peripheral pulmonary artery stenosis Megalocornea Rectal prolapse Colonic diverticula Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Peptic ulcer Abnormality of the bladder Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Normochromic anemia Congenital hypoplastic anemia Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Subvalvular aortic stenosis Nocturia Synostosis of joints Abnormality of lipid metabolism Insomnia Bicuspid aortic valve Hypercalciuria Portal hypertension Precocious puberty Radioulnar synostosis Elfin facies Failure to thrive in infancy Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Hypercalcemia Redundant skin Early onset of sexual maturation Cholelithiasis Dysphonia Nephritis Dyssynergia Polycystic ovaries Incoordination Stellate iris Abnormality of pelvic girdle bone morphology Renal duplication Functional abnormality of male internal genitalia Arnold-Chiari malformation Descending aorta hypoplasia Vocal cord dysfunction Schizophrenia Infantile muscular hypotonia Ischemic stroke Sacral dimple Abnormality of the voice Medial flaring of the eyebrow Restlessness Supravalvular aortic stenosis Facial cleft Celiac disease Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Pelvic kidney Food intolerance Dry hair Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Impaired visuospatial constructive cognition Obsessive-compulsive behavior Anemia of inadequate production Loss of consciousness Calcification of the aorta Polyuria Unilateral renal hypoplasia Myxomatous mitral valve degeneration Glucose intolerance Paroxysmal bursts of laughter Tracheoesophageal fistula Abnormal carotid artery morphology Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Abnormality of the diencephalon Short middle phalanx of the 5th finger Laryngospasm Slow-growing hair Microtia Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the thorax Abnormality of the urinary system Type I diabetes mellitus Abnormality of the hair Hypohidrosis Nail dysplasia Iris coloboma Dry skin Congenital cataract Nail dystrophy Coloboma Aplasia cutis congenita Telecanthus Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Acute myeloid leukemia Myeloid leukemia Cellulitis Multiple lipomas Hypoplastic nipples Leukocytosis 3-4 finger cutaneous syndactyly Pericardial effusion Overlapping toe Pleural effusion Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Oculomotor apraxia Apraxia Arthrogryposis multiplex congenita Posteriorly rotated ears Duplication of renal pelvis Abnormality of the scalp Underdeveloped antitragus Underdeveloped tragus Palpebral edema Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Prolonged bleeding time Myelodysplasia Overlapping fingers Weak voice Wormian bones Thin skin Hypoplasia of the maxilla Recurrent fractures Thin vermilion border Proptosis Hyperkeratosis Alopecia Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Dysesthesia Cachexia Chronic pain Facial paralysis Axonal degeneration Scapular winging Sensory impairment Bifid uvula Facial asymmetry Myalgia Rigidity Narrow mouth Hyporeflexia Skeletal muscle atrophy Peripheral neuropathy Growth abnormality Dermal atrophy Intracranial hemorrhage Respiratory failure Leukopenia Bone marrow hypocellularity Pancytopenia Migraine Tapered finger Hemolytic anemia Bruising susceptibility Cirrhosis Lymphadenopathy Vertigo Leukemia Pallor Weight loss Thrombocytopenia Pterygium Recurrent infections Immunodeficiency Fever Neoplasm Thin calvarium Narrow philtrum Increased thyroid-stimulating hormone level Osteolytic defects of the phalanges of the hand Shallow orbits Striae distensae Slender long bone Lipoatrophy Long nose Delayed cranial suture closure Cystic hygroma Cerebellar dysplasia Neurogenic bladder Hypotrichosis Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Short palpebral fissure Tetraparesis Cerebral calcification Overgrowth Underdeveloped nasal alae Microcornea Palmoplantar keratoderma Cleft upper lip Paraplegia Toe syndactyly Abnormality of the cerebral white matter Spastic paraparesis Spastic paraplegia Hip dislocation Abnormality of the nervous system Conductive hearing impairment Hypoglycemia Polydactyly Arrhythmia Abnormality of cardiovascular system morphology Blindness Projectile vomiting Thyroid dysgenesis Hypoplasia of the ear cartilage Encephalomalacia Paraparesis Spastic tetraparesis Congenital nephrotic syndrome Hyperactive deep tendon reflexes Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails Taurodontia Abnormality of the clavicle Hypoparathyroidism Median cleft lip External ear malformation Premature loss of teeth Curly hair Abnormality of vision Basal ganglia calcification Metaphyseal dysplasia Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Brittle hair Preaxial polydactyly Bilateral ptosis Reduced number of teeth Albuminuria Abnormality of the intervertebral disk Kinked brainstem Inability to walk Oligohydramnios Sloping forehead Prominent nose Premature birth Delayed myelination Limitation of joint mobility Brain atrophy Chorea Gliosis Tetraplegia Ascites Hypopigmentation of the skin Nephropathy Arachnodactyly Spastic tetraplegia Talipes Poor speech Severe global developmental delay Retinopathy Muscular hypotonia of the trunk EEG abnormality Pes cavus Pneumonia Dilatation Cerebral atrophy Dystonia Vomiting Hypoplasia of the corpus callosum Nephrotic syndrome Pachygyria Axial dystonia Proportionate short stature Diffuse mesangial sclerosis Diaphragmatic eventration Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Hypoplasia of the iris Abnormality of immune system physiology Postnatal microcephaly Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Hyperkinesis Severe muscular hypotonia Opacification of the corneal stroma Aspiration Joint contracture of the hand Progressive microcephaly Erythroid hyperplasia


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