Edema, and Thin vermilion border

Diseases related with Edema and Thin vermilion border

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

Top matches:

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

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

Other less relevant matches:

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Low match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

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

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

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

Top 5 symptoms//phenotypes associated to Edema and Thin vermilion border

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Thin upper lip vermilion Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Thin vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Micrognathia Scoliosis Wide nasal bridge Anteverted nares Epicanthus Depressed nasal bridge Failure to thrive Downslanted palpebral fissures Abnormal facial shape Prominent forehead Sensorineural hearing impairment Telecanthus Wide nose Smooth philtrum Large fontanelles Pointed chin Hearing impairment Low-set ears Hypospadias Generalized hypotonia Wide mouth Flexion contracture Respiratory insufficiency Growth delay Pectus carinatum Cryptorchidism

Rare Symptoms - Less than 30% cases

Triangular face Feeding difficulties Ptosis Hypoplasia of the maxilla Patent foramen ovale Splenomegaly Deep philtrum Prominent nasal tip Flat occiput Intrauterine growth retardation Synophrys Hepatomegaly Atrial septal defect Hepatosplenomegaly Short philtrum Hydronephrosis Ventricular septal defect Patent ductus arteriosus Long nose Delayed cranial suture closure Full cheeks Short neck Vomiting High palate Syndactyly Pectus excavatum Blindness Posteriorly rotated ears Muscular hypotonia Broad forehead Neonatal hypotonia Macrotia Gastroesophageal reflux Hyperactivity Brachycephaly Cerebellar atrophy Strabismus Long philtrum Nystagmus Chylothorax Bladder exstrophy Cataract Glaucoma Prominent metopic ridge Mandibular prognathia Specific learning disability Microcornea Highly arched eyebrow Thick vermilion border Broad nasal tip Cerebral cortical atrophy Delayed eruption of teeth Optic atrophy Hypermetropia Retrognathia Thick lower lip vermilion Abnormal heart morphology Abnormality of cardiovascular system morphology Cerebral atrophy Spasticity Microphthalmia Midface retrusion Proptosis Hepatic failure Exudative vitreoretinopathy Cleft palate Abnormality of the dentition Chorioretinal atrophy Posterior pharyngeal cleft Osteoma Exstrophy Recurrent aspiration pneumonia Intestinal lymphangiectasia Recurrent infections Abnormality of the nasopharynx Right aortic arch Cellulitis Abnormality of the pharynx Melanonychia Frontal bossing Malar flattening Cortical gyral simplification Abnormal eyelash morphology Bilateral ptosis Flat face Facial asymmetry Optic nerve hypoplasia Budd-Chiari syndrome Carious teeth Coloboma Scaling skin Agitation Craniosynostosis Low-set, posteriorly rotated ears Intellectual disability, moderate Umbilical hernia High forehead Anophthalmia Micropenis Underdeveloped supraorbital ridges Volvulus Agenesis of corpus callosum Intestinal malrotation Chorioretinal dysplasia Abnormality of the voice Aspiration Recurrent urinary tract infections Congenital diaphragmatic hernia Ambiguous genitalia Hypodontia Abnormal nasolacrimal system morphology Oral cleft Cleft upper lip Anal atresia Cleft lip Panniculitis Pneumonia Retinal thinning Erysipelas Increased number of teeth Pulmonary artery atresia Abnormal toenail morphology Dysphagia Gangrene Widow's peak Hydrocele testis Venous thrombosis Vitreoretinopathy Retinal dysplasia Double outlet right ventricle Leukonychia Retinal fold Congenital microcephaly Myopic astigmatism Aspiration pneumonia Hernia Bilateral cleft lip Bilateral cleft lip and palate Skin ulcer Muscle stiffness Retinopathy Dentinogenesis imperfecta limited to primary teeth Absent external genitalia Attached earlobe Rigidity Submucous cleft soft palate Aggressive behavior Protruding ear Attention deficit hyperactivity disorder Blepharochalasis Periorbital wrinkles Leukemia Corneal opacity Phthisis bulbi Type I transferrin isoform profile Astigmatism Multiple impacted teeth Abnormality of the sella turcica Rootless teeth Thoracolumbar kyphoscoliosis Amelia involving the lower limbs Intellectual disability, mild Severe short stature Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Myopia Short stature Advanced pneumatization of the mastoid process Unilateral cleft palate Upper limb peromelia Lagopthalmos Upslanted palpebral fissure Reduced visual acuity Abnormality of the shape of the midface Abnormality of dentin Abnormality of the vertebral spinous processes Dry skin Retinal dystrophy Thick eyebrow Status epilepticus Narrow forehead Wide intermamillary distance Dental malocclusion Overgrowth Pigmentary retinopathy Sloping forehead Bilateral sensorineural hearing impairment Subcutaneous nodule Bifid scrotum Thickened skin Amblyopia Bifid uvula Abnormality of retinal pigmentation Lymphedema Downturned corners of mouth Visual loss Cutaneous syndactyly Keratitis Penoscrotal hypospadias Eyelid coloboma Ureteral stenosis Abnormality of the cervical spine Retinal detachment Absent nipple Cleft soft palate Concave nasal ridge Large earlobe Thoracolumbar scoliosis Mixed hearing impairment Megalocornea Premature loss of teeth Sleep disturbance Submucous cleft hard palate Lymphoma Anteriorly placed anus Thickened calvaria Abnormality of the vertebral column Abnormality of the amniotic fluid Pain Nonimmune hydrops fetalis Osteopenia Fine hair Hypotelorism Abnormality of the skin Recurrent fractures Prominent nasal bridge Scarring Sparse hair Kyphoscoliosis Wormian bones Hyperkeratosis Osteoporosis Alopecia Delayed skeletal maturation Brachydactyly Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Thin skin Growth abnormality Hypoargininemia Increased thyroid-stimulating hormone level Cirrhosis Small for gestational age Abnormality of the kidney Thrombocytopenia Anemia Thin calvarium Narrow philtrum Osteolytic defects of the phalanges of the hand Cachexia Shallow orbits Narrow nose Striae distensae Prematurely aged appearance Slender long bone Lipoatrophy Pterygium Dermal atrophy Protein avoidance Respiratory alkalosis Asthma Malnutrition Headache Peripheral neuropathy Ataxia Intractable diarrhea Enterocolitis Protein-losing enteropathy Villous atrophy Hyponatremia Polydactyly Hypoalbuminemia Hypercholesterolemia Abnormal intestine morphology Hyperlipidemia Sepsis Metabolic acidosis Acidosis Diarrhea Encephalopathy Carcinoma Oroticaciduria Hyperammonemia Paranoia Wide nasal base Episodic vomiting Cerebral edema Episodic ataxia Alkalosis Acute hepatic failure Pancreatitis Mental deterioration Aciduria Gliosis Coma Postaxial polydactyly Confusion Lethargy Stroke Irritability Abnormal bleeding Oligohydramnios Abnormality of immune system physiology Short nose Severe global developmental delay Abnormal pyramidal sign Postnatal growth retardation Developmental regression Muscular hypotonia of the trunk Constipation Absent speech Skeletal muscle atrophy Poor speech Hyperreflexia Euryblepharon Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Duplication of thumb phalanx Macrogyria Subcortical cerebral atrophy Abnormality of the cerebral white matter Neurodegeneration Optic nerve coloboma Hypogonadism Abnormality of coagulation Portal hypertension Nephrotic syndrome Ascites Nephropathy Hypertrophic cardiomyopathy Jaundice Areflexia Spastic tetraplegia Cardiomyopathy Hypertension Slender nose Poor eye contact Decreased motor nerve conduction velocity Infantile muscular hypotonia Spastic tetraparesis Tetraparesis Abnormality of the upper urinary tract Echolalia Coarctation of aorta Clitoral hypertrophy Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Premature skin wrinkling Dextrocardia Poor suck Abnormality of glutamine metabolism Cutis laxa Situs inversus totalis Hydrops fetalis Decreased liver function Wide anterior fontanel Hepatic fibrosis Telangiectasia Pancytopenia Increased serum bile acid concentration Skeletal dysplasia Heterochromia iridis Trigonocephaly Depressed nasal tip Short columella Transient ischemic attack Palpebral edema Long palpebral fissure Dysphasia Aphasia Hydroureter Mutism Coarse facial features Lissencephaly Pachygyria Low posterior hairline Webbed neck Prominent nose Iris coloboma Polymicrogyria Joint stiffness Chorioretinal lacunae


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