Epicanthus, and Ascites

Diseases related with Epicanthus and Ascites

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

Top matches:

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Other less relevant matches:

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

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Ascites

Symptoms // Phenotype % cases
Edema Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Ascites. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Macrocephaly Abnormal facial shape Micrognathia High forehead Muscular hypotonia Hydrops fetalis Frontal bossing Hydrocephalus Polydactyly Dolichocephaly Cleft palate Ventriculomegaly Depressed nasal bridge Splenomegaly Fetal ascites Hernia Inguinal hernia Hearing impairment Scoliosis Short nose Pulmonary hypoplasia Postaxial polydactyly Limb undergrowth Renal hypoplasia Talipes equinovarus Ventricular septal defect Short neck Dilatation Abnormality of the skeletal system Wide nasal bridge Abnormality of cardiovascular system morphology Abnormality of the pinna Corneal opacity Hepatosplenomegaly Nystagmus Failure to thrive Multicystic kidney dysplasia Oral cleft Intrauterine growth retardation Renal cyst Neoplasm Hypospadias Brachydactyly Hypothyroidism Cognitive impairment Syndactyly High palate Nephroblastoma Deeply set eye Short stature

Rare Symptoms - Less than 30% cases

Renal dysplasia Polymicrogyria Specific learning disability Depressed nasal ridge Hepatic fibrosis Postnatal growth retardation Abnormality of the nervous system Abnormal heart morphology Postaxial hand polydactyly Omphalocele Microphthalmia Arrhythmia Craniosynostosis Cataract Downslanted palpebral fissures Upslanted palpebral fissure Growth delay Optic atrophy Aplasia/Hypoplasia of the cerebellum Spasticity Strabismus Cortical dysplasia Delayed skeletal maturation Large for gestational age Multiple cafe-au-lait spots Respiratory distress Retrognathia Holoprosencephaly Visceromegaly Bilateral single transverse palmar creases Ambiguous genitalia Dandy-Walker malformation Flat face Talipes Muscular hypotonia of the trunk Posteriorly rotated ears Patent ductus arteriosus Hyperlordosis Capillary hemangioma Smooth philtrum Abdominal distention Macroglossia Overgrowth Polysplenia Enlarged kidney Protuberant abdomen Lumbar hyperlordosis Redundant skin Intellectual disability, mild Abnormality of the upper limb J-shaped sella turcica Cystic renal dysplasia Narrow chest Cystic hygroma Cerebral atrophy Congestive heart failure Cerebellar atrophy Anteverted nares Ptosis Ataxia Varicose veins Hypoplastic scapulae Thoracic hypoplasia Coarse facial features Polycystic kidney dysplasia Short long bone Short ribs Nonimmune hydrops fetalis Dysostosis multiplex Respiratory insufficiency Renal insufficiency Micromelia Cleft lip Osteopenia Thoracic dysplasia Cardiomegaly Pectus excavatum Hypopigmentation of the skin Atrial septal defect Metaphyseal irregularity Gingival overgrowth Respiratory tract infection Aspiration Webbed neck Severe global developmental delay Atrioventricular canal defect Acute lymphoblastic leukemia Cavum septum pellucidum Abnormality of immune system physiology Dilation of lateral ventricles Atrial flutter Abnormal lung lobation Stomach cancer Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Large earlobe Meningioma Megalencephaly Severe failure to thrive Colon cancer Right aortic arch Arterial stenosis Sleep apnea Cerebral dysmyelination Cerebral hypoplasia Leukocoria Chylous ascites Hemimegalencephaly Aortic regurgitation Facial hemangioma Aplasia/Hypoplasia of the corpus callosum Premature chromatid separation Skin erosion Capillary malformation Abnormality of vision Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Myelodysplasia Asymmetric growth Arnold-Chiari type I malformation Severe postnatal growth retardation Aplasia/Hypoplasia of the skin Nevus flammeus Leukemia Nevus Duodenal atresia Retinal detachment Thick vermilion border Joint hypermobility Toe syndactyly Finger syndactyly Intestinal polyposis Abnormality of the skin Broad forehead Stroke Subvalvular aortic stenosis Increased nuchal translucency Joint laxity Rhabdomyosarcoma Abnormal aortic morphology Vesicoureteral reflux Abnormality of the skull Syringomyelia Epidermoid cyst Telangiectasia of the skin Abnormality of digit Renal cortical microcysts Cutis marmorata Calcific stippling Reduced bone mineral density Arnold-Chiari malformation Generalized cerebral atrophy/hypoplasia Telangiectasia Ischemic stroke Microretrognathia Hemangioma Cutis laxa Cutaneous syndactyly Shock Purpura Clinodactyly of the 5th finger Recurrent infections Progressive macrocephaly Thoracic kyphosis Abnormality of skin pigmentation Pulmonary insufficiency Long face Recurrent ear infections Bile duct proliferation Broad ribs Thoracolumbar scoliosis Spinal cord compression Hypoplasia of the odontoid process Thoracolumbar kyphosis Hyperactive deep tendon reflexes Abnormal heart valve morphology Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Bulbous nose Wide nose Triangular face Muscular dystrophy Acetabular dysplasia Sloping forehead Proximal tapering of metacarpals Clinodactyly Glaucoma Low-set, posteriorly rotated ears Apnea Microcephaly Anterior beaking of lower thoracic vertebrae Abnormality of the eye Blepharophimosis Decreased pulmonary function Prominent sternum Small for gestational age Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches Thoracic kyphoscoliosis Growth hormone deficiency Pleural effusion Displacement of the external urethral meatus Severe short stature Pectus carinatum Intellectual disability, moderate Hypertrophic cardiomyopathy Umbilical hernia Skeletal dysplasia Kyphoscoliosis Dyspnea Mandibular prognathia Kyphosis Poor speech Osteolysis Hypertonia Cardiomyopathy Motor delay Flexion contracture Blue nevus Cutis marmorata telangiectatica congenita Vascular ring Platyspondyly Genu valgum Coarctation of aorta Cafe-au-lait spot Pterygium Recurrent upper respiratory tract infections Widely spaced teeth Opacification of the corneal stroma Cardiac arrest Short palpebral fissure Rhizomelia Broad-based gait Finger clinodactyly Facial asymmetry Hypertrichosis Spastic tetraplegia Hip dysplasia Tetraplegia Neurodegeneration Hirsutism Thick eyebrow Vertigo Enterocolitis Growth abnormality Corpus callosum atrophy Premature graying of hair Abnormality of the cerebellar vermis Lymphangioma Subcortical cerebral atrophy Oxycephaly Rib fusion Broad neck Generalized hyperpigmentation Macular dystrophy Hemivertebrae Cerebral cortical hemiatrophy Muscle stiffness Thickened skin Abnormality of the face Anal atresia Rigidity Respiratory failure Recurrent respiratory infections Cerebellar hypoplasia Pancreatic fibrosis Aplasia/Hypoplasia of the macula Myopia Patent foramen ovale Natal tooth Broad palm Short finger Milia Short thorax Bowing of the legs Anophthalmia Preaxial polydactyly Disproportionate short-limb short stature Hypoplasia of the small intestine Short toe Wide intermamillary distance Intestinal malrotation Single transverse palmar crease Short foot Short palm Cleft upper lip Extrapulmonary sequestrum Hypoplastic colon Tremor Vacuolated lymphocytes Anencephaly Hydrocele testis Prune belly Facial edema Intestinal lymphangiectasia Stomatocytosis Chylothorax Periorbital edema Spherocytosis Generalized edema Deep venous thrombosis Genital edema Cellulitis Pericardial effusion Cupped ear Lymphedema Hemolytic anemia Gastroesophageal reflux Fever Anemia Pulmonary lymphangiectasia Sparse hair Conjugated hyperbilirubinemia Short lingual frenulum Fair hair Esophageal atresia Abnormality of the thorax Nephrotic syndrome Premature birth Abnormality of the foot Short uvula Fused teeth Bilateral postaxial polydactyly Hepatic failure Flat acetabular roof Agenesis of permanent teeth Mesomelia Aplasia/Hypoplasia of the eyebrow Bowing of the long bones Fine hair Microdontia Nail dysplasia Short distal phalanx of finger Hypoplastic nipples Median cleft lip Undetectable electroretinogram Ileal atresia Pneumonia Visual loss Long philtrum Hypoplasia of the corpus callosum Skeletal muscle atrophy Visual impairment Prominent xiphoid process Distal ileal atresia Nephrogenic rest Elevated hepatic transaminase Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Abnormality of upper lip Lumbar scoliosis Neonatal hypotonia Feeding difficulties in infancy Pancreatic islet-cell hyperplasia Progressive hearing impairment Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Delayed cranial suture closure Decreased muscle mass Hammertoe Decreased nerve conduction velocity Large fontanelles Abnormality of the liver Pachygyria Heterotopia Cholestasis Split hand Peripheral demyelination Progressive visual loss Gliosis Hepatic steatosis Abnormality of the cerebral white matter Long upper lip Broad alveolar ridges Broad foot Lobulated tongue Agenesis of corpus callosum Cryptorchidism Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Periportal fibrosis Hamartoma of tongue Accessory spleen Hydronephrosis Horizontal ribs Median cleft lip and palate Pancreatic cysts Atelectasis Bifid tongue Preaxial foot polydactyly Single umbilical artery Microglossia Prominent forehead Abnormality of the kidney Intestinal atresia Neurodevelopmental delay Femoral hernia Interrupted aortic arch Thickened helices Hypoxemia Volvulus Thick upper lip vermilion Renal neoplasm Hamartoma Global brain atrophy High, narrow palate Hyperinsulinemia Tented upper lip vermilion Tall stature Open mouth Status epilepticus Congenital diaphragmatic hernia Hypoplasia of penis Abnormality of the cardiovascular system Round face Vaginal neoplasm


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