Edema, and Wide nasal bridge

Diseases related with Edema and Wide nasal bridge

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Other less relevant matches:

Medium match BOOMERANG DYSPLASIA

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

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

Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form|micromelic dysplasia-dislocation of radius syndrome|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE OMODYSPLASIA

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Top 5 symptoms//phenotypes associated to Edema and Wide nasal bridge

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Wide nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Long philtrum Microcephaly Downslanted palpebral fissures Seizures Ptosis Micrognathia Growth delay Generalized hypotonia Short stature Sparse hair Hernia Large fontanelles Pointed chin Sloping forehead Severe short stature Gastroesophageal reflux Lymphedema Depressed nasal bridge Abnormal heart morphology Low-set ears

Rare Symptoms - Less than 30% cases

Myopia Atrial septal defect Agenesis of corpus callosum Recurrent urinary tract infections Feeding difficulties Abnormal facial shape Chorioretinal dysplasia Ventricular septal defect Abnormality of femur morphology Abnormal eyelash morphology Frontal bossing Palpebral edema Abnormality of the radius Long nose Macrocephaly Thick vermilion border Congenital diaphragmatic hernia Wide mouth Abnormality of cardiovascular system morphology Chylothorax Micromelia Specific learning disability Alopecia Malar flattening Sensorineural hearing impairment Delayed speech and language development Hydrocele testis Pachygyria Prominent forehead Retrognathia Flat face Umbilical hernia Hydronephrosis Posteriorly rotated ears Blepharophimosis Hydrops fetalis Abnormality of retinal pigmentation Full cheeks Short columella Strabismus Dilatation Scoliosis Hyperkeratosis Short neck Skeletal dysplasia Telecanthus Intrauterine growth retardation Bilateral ptosis Prominent metopic ridge Growth hormone deficiency Webbed neck Wide nose Leukemia Broad forehead Cataract Spasticity Optic atrophy Microphthalmia Retinopathy Glaucoma Cerebral cortical atrophy Severe short-limb dwarfism Retinal dystrophy Hypertonia Pyloric stenosis Retinal detachment Pulmonary artery stenosis Protruding ear Limited elbow extension Mesomelia Elbow dislocation Pterygium Increased nuchal translucency Limited knee extension Increased fibular diameter Fibular hypoplasia Limited elbow flexion Popliteal pterygium Limited hip movement Short humerus Short tibia Dislocated radial head Axillary pterygium Disproportionate short-limb short stature Dysphasia Hemangioma Duplication of thumb phalanx Long palpebral fissure Transient ischemic attack Depressed nasal tip Heterochromia iridis Echolalia Delayed cranial suture closure Optic nerve coloboma Abnormality of the upper urinary tract Subcortical cerebral atrophy Macrogyria Retinoschisis Narrow palpebral fissure Cerebral cortical hemiatrophy Osteochondrosis Euryblepharon Aphasia Hydroureter Short nose Craniosynostosis Limb undergrowth Abnormality of the metaphysis Rhizomelia Short chin Limited knee flexion Abnormal eyelid morphology Hypoplastic distal humeri Pectus carinatum Intestinal malrotation Hypodontia Oral cleft Cleft upper lip Smooth philtrum Anal atresia Cleft lip Aspiration Thin upper lip vermilion Pneumonia Patent ductus arteriosus Pectus excavatum Hypospadias Syndactyly Ambiguous genitalia Abnormality of the voice Dysphagia Right aortic arch Osteoma Exstrophy Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Abnormality of the pharynx Increased number of teeth Volvulus Pulmonary artery atresia Widow's peak Bilateral cleft lip and palate Aspiration pneumonia Bilateral cleft lip Double outlet right ventricle Respiratory insufficiency High palate Limited elbow flexion/extension Dry skin Skin ulcer Amblyopia Thickened skin Subcutaneous nodule Status epilepticus Lymphoma Abnormality of the eye Muscle stiffness Rigidity Upslanted palpebral fissure Visual loss Blindness Muscular hypotonia Anterolateral radial head dislocation Limited knee flexion/extension Abnormality of the hair Venous thrombosis Cleft palate Retinal dysplasia Melanonychia Panniculitis Erysipelas Abnormal nasolacrimal system morphology Leukonychia Abnormality of the optic nerve Abnormal toenail morphology Abnormality of vision Mutism Gangrene Underdeveloped supraorbital ridges Cellulitis Anophthalmia Pleural effusion Scaling skin Trigonocephaly Inguinal hernia Lissencephaly Brachydactyly Narrow mouth Camptodactyly Abnormality of the pinna Short philtrum Abnormality of the cerebral white matter Joint hypermobility Downturned corners of mouth Round face Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Polyhydramnios Talipes equinovarus Finger syndactyly Narrow chest Underdeveloped nasal alae Omphalocele Short ribs Abnormality of the metacarpal bones Absent radius Aplasia/Hypoplasia of the lungs Abnormality of the ulna Abnormality of tibia morphology Aplasia/Hypoplasia of the abdominal wall musculature Coronal cleft vertebrae Abnormality of the humerus Hypoplasia of the corpus callosum Retinal fold Abnormal bone ossification Juvenile myelomonocytic leukemia Hearing impairment Motor delay Cardiomyopathy Intellectual disability, mild High forehead Hypertrophic cardiomyopathy Pulmonic stenosis Cafe-au-lait spot Relative macrocephaly Curly hair Broad neck Asymmetry of the thorax Long eyebrows Nystagmus Vitreoretinopathy Visual impairment Hyperreflexia Intellectual disability, severe Cerebral atrophy Cerebellar hypoplasia Abnormality of skin pigmentation Pigmentary retinopathy Optic disc pallor Cone/cone-rod dystrophy Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Cortical gyral simplification Biparietal narrowing Fibular aplasia Abnormally ossified vertebrae Low posterior hairline Premature skin wrinkling Respiratory failure Macrotia Joint laxity Pulmonary hypoplasia Convex nasal ridge Microretrognathia Sandal gap Cutis laxa Laryngomalacia Patent foramen ovale Emphysema Prematurely aged appearance Tracheomalacia Peripheral pulmonary artery stenosis Respiratory distress Bladder diverticulum Periorbital edema Rectal prolapse Bronchomalacia Failure to thrive Coarse facial features Joint stiffness Thin vermilion border Polymicrogyria Iris coloboma Highly arched eyebrow Microcornea Prominent nose Midface retrusion Telangiectasia of extensor surfaces Aplasia/Hypoplasia of the fibula Sparse and thin eyebrow Hypoplastic iliac body Hypoplastic nasal septum Poorly ossified vertebrae Hypertension Renal insufficiency Mandibular prognathia Proteinuria Prominent nasal bridge Hypotrichosis Stage 5 chronic kidney disease Broad nasal tip Eczema Telangiectasia Sparse eyelashes Facial telangiectasia in butterfly midface distribution Chronic kidney disease Glomerulonephritis Absent eyebrow Reduced subcutaneous adipose tissue Freckling Absent eyelashes Narrow nose Nonimmune hydrops fetalis Arteriosclerosis Membranoproliferative glomerulonephritis Oval face Pulmonary lymphangiectasia Choroid plexus calcification Epidermal hyperkeratosis Posterior pharyngeal cleft


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