Edema, and Upslanted palpebral fissure

Diseases related with Edema and Upslanted palpebral fissure

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

Top matches:

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

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

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Other less relevant matches:

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

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Edema and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Generalized hypotonia Microcephaly Micrognathia Depressed nasal bridge Anteverted nares Wide nasal bridge Rigidity High forehead Strabismus Muscular hypotonia Full cheeks Ptosis High palate Cleft palate Thickened skin Short stature Nystagmus Cataract Hypoplasia of the corpus callosum Short nose Telecanthus Dolichocephaly Overlapping toe Short neck Spasticity Myopia Optic atrophy Abnormal heart morphology Long philtrum Retinopathy Abnormality of the pinna Specific learning disability Muscle stiffness Cystic hygroma Hepatomegaly Microphthalmia Abnormality of cardiovascular system morphology Blepharophimosis Polyhydramnios Lymphedema

Rare Symptoms - Less than 30% cases

Subcutaneous nodule Abnormal toenail morphology Underdeveloped supraorbital ridges Abnormal eyelash morphology Gangrene Leukonychia Retinal dysplasia Anophthalmia Chylothorax Narrow palpebral fissure Erysipelas Panniculitis Chorioretinal dysplasia Cellulitis Scaling skin Pleural effusion Sloping forehead Wide nose Retinal dystrophy Thick vermilion border Retinal detachment Flexion contracture Lymphoma Status epilepticus Talipes equinovarus Intellectual disability, mild Amblyopia Abnormality of retinal pigmentation Skin ulcer Pointed chin Venous thrombosis Melanonychia Cerebellar hypoplasia Clinodactyly Intellectual disability, severe Cryptorchidism Hearing impairment Microcornea Polysplenia Abnormality of the face Optic nerve hypoplasia Patent foramen ovale Cutis laxa Hepatic fibrosis Hydrops fetalis Postaxial hand polydactyly Limb undergrowth Craniosynostosis Acidosis Leukemia Polydactyly Inguinal hernia Pectus excavatum Hernia Flat face Brachydactyly Pigmentary retinopathy Scrotal hypoplasia Plagiocephaly Dandy-Walker malformation Hypermetropia Camptodactyly Retrognathia Posteriorly rotated ears Dry skin Abnormal nasolacrimal system morphology Apnea Abnormality of the skeletal system Neonatal hypotonia Prominent forehead Deep philtrum Hypotelorism Bilateral ptosis Absent speech Protruding ear Syndactyly Respiratory distress Narrow mouth Atrial septal defect Facial asymmetry Ventriculomegaly Glaucoma Severe short stature Visual loss Blindness Hypertonia Hyperactivity Abnormality of the scrotum External ear malformation Ataxia Omphalocele Lower limb asymmetry Periorbital fullness Broad eyebrow Median cleft palate Reduced visual acuity Upper limb asymmetry Increased number of skin folds Redundant skin Stippled chondral calcification Localized neuroblastoma Hypoplastic colon Renal dysplasia Sensorineural hearing impairment Downslanted palpebral fissures Multicystic kidney dysplasia Irregular hyperpigmentation Intrahepatic biliary dysgenesis Hemivertebrae Subcortical cerebral atrophy Abnormality of the musculature Hypoplastic nipples Hypertrichosis Hypospadias Brachycephaly Renal hypoplasia Umbilical hernia Ascites Low-set, posteriorly rotated ears Microtia Severe global developmental delay Hypopigmentation of the skin Nevus Abnormality of the skin Wide intermamillary distance Febrile seizures Short palpebral fissure Postaxial polydactyly Neuroblastoma Pulmonary hypoplasia Hypoplasia of dental enamel Generalized hirsutism Micromelia Overfolded helix Anal atresia Tricuspid regurgitation Long fingers Respiratory failure Macrotia Cerebellar vermis atrophy Hamartoma Recurrent respiratory infections Tremor Mandibular prognathia Sleep disturbance Thin upper lip vermilion Protuberant abdomen Cerebral cortical hemiatrophy Turricephaly Palpebral edema Metatarsus adductus Clitoral hypertrophy Cubitus valgus Polycystic kidney dysplasia Poor suck Intrauterine growth retardation Intellectual disability, progressive Areflexia Opacification of the corneal stroma Aminoaciduria Abnormality of the helix Joint contracture of the hand Large fontanelles Jaundice Enlarged kidney Broad neck Pancreatic fibrosis Developmental regression Rib fusion Abnormality of the cerebellar vermis Lymphangioma Cystic renal dysplasia Oxycephaly Single transverse palmar crease Failure to thrive Chorioretinal lacunae Aggressive behavior Flat occiput Hypoplasia of the small intestine Elevated long chain fatty acids Premature graying of hair Attention deficit hyperactivity disorder Corneal opacity Astigmatism Broad nasal tip Aplasia/Hypoplasia of the macula Overgrowth Bilateral sensorineural hearing impairment Brushfield spots Thick lower lip vermilion Optic nerve dysplasia Myopic astigmatism Agitation Cortical gyral simplification Chorioretinal atrophy Vitreoretinopathy Retinal fold Congenital microcephaly Prominent nasal tip Retinal thinning Abnormality of the mitochondrion Macular dystrophy Exudative vitreoretinopathy Hypoplasia of the thymus Generalized hyperpigmentation Depressed nasal ridge Frontal bossing Congestive heart failure Open mouth Radial head subluxation Brachial plexus neuropathy Feeding difficulties Visual impairment Respiratory insufficiency Encephalopathy Myoclonus Anxiety Broad forehead Unsteady gait Delayed myelination Esotropia Epileptic encephalopathy Broad-based gait Peripheral axonal degeneration Cafe-au-lait spot Cerebral visual impairment CNS hypomyelination Precocious puberty Myopathic facies Neurodevelopmental delay Facial hypotonia Abnormality of the eye Abnormality of the hair Abnormality of vision Abnormal eyelid morphology Abnormality of the optic nerve Macrocephaly Cutis gyrata of scalp Neuritis Behavioral abnormality Deeply set eye Hepatosplenomegaly Synophrys Abnormal intestine morphology Protein-losing enteropathy Facial edema Muscle weakness Pain Peripheral neuropathy Skeletal muscle atrophy Fatigue Depressivity Hyporeflexia Hyperhidrosis Myalgia Weak voice Paralysis Finger syndactyly Paresthesia Postural instability Bifid uvula Sensory impairment Hoarse voice Narrow face Scapular winging Axonal degeneration Facial paralysis Chronic pain Dysesthesia Hydrocephalus Micropenis Motor delay Mesomelia Ectodermal dysplasia Microdontia Narrow forehead Cholestasis Left ventricular hypertrophy Rhizomelia Short ribs Hyperbilirubinemia Sparse eyelashes Widely spaced teeth Chronic kidney disease Preaxial polydactyly Sparse eyebrow Nephronophthisis Everted lower lip vermilion Cutaneous finger syndactyly High anterior hairline Biliary cirrhosis Cholangitis Broad philtrum Cloverleaf skull Bile duct proliferation Portal fibrosis Horizontal ribs Metopic synostosis Fused teeth Scoliosis Delayed speech and language development Renal cyst Stage 5 chronic kidney disease Arthrogryposis multiplex congenita Cerebellar dysplasia Abnormality of eye movement Abnormality of the foot Webbed neck Apraxia Heterotopia Oculomotor apraxia Lissencephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Adducted thumb Hypoplasia of the brainstem Pericardial effusion Overlapping fingers Hand clenching Smooth philtrum Kinked brainstem Hypertension Abnormality of the dentition Splenomegaly Renal insufficiency Midface retrusion Patent ductus arteriosus Rod-cone dystrophy Elevated hepatic transaminase Proteinuria Joint laxity Sparse hair Narrow chest Extrapulmonary sequestrum


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