Low-set ears, and Ascites

Diseases related with Low-set ears and Ascites

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

Top matches:

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Other less relevant matches:

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

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

High 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

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to Low-set ears and Ascites

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Edema Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Ascites. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Polyhydramnios

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Intellectual disability Short nose Posteriorly rotated ears Muscular hypotonia Microcephaly Short neck Epicanthus Ventriculomegaly Wide nasal bridge Hypospadias Abnormality of the pinna Micrognathia Hydrops fetalis Prominent forehead Anteverted nares Pulmonary hypoplasia Strabismus Retrognathia Optic atrophy Macrocephaly Inguinal hernia Hepatosplenomegaly Frontal bossing Thoracic hypoplasia Long philtrum Thickened skin Abnormality of the face Respiratory distress Cerebellar atrophy Upslanted palpebral fissure Protuberant abdomen Cardiomegaly Limb undergrowth Hearing impairment Talipes equinovarus Nystagmus Flat face Pericardial effusion Cerebellar hypoplasia Flexion contracture Cleft palate Fetal ascites Intrauterine growth retardation Hypoplasia of the corpus callosum Hydronephrosis High forehead

Rare Symptoms - Less than 30% cases

Distal arthrogryposis Neonatal hypotonia Open mouth Progressive hearing impairment Abdominal distention High palate Skeletal muscle atrophy Tented upper lip vermilion Elevated hepatic transaminase Abnormality of the cardiovascular system Smooth philtrum Macroglossia Developmental regression Proptosis Abnormality of the liver Behavioral abnormality Abnormality of the skeletal system Thrombocytopenia Camptodactyly Nonimmune hydrops fetalis High, narrow palate Patent ductus arteriosus Ataxia Renal dysplasia Global brain atrophy Respiratory insufficiency Talipes Renal cyst Dandy-Walker malformation Cystic renal dysplasia Polysplenia Enlarged kidney Hepatic fibrosis Omphalocele Dolichocephaly Depressed nasal ridge Renal hypoplasia Specific learning disability Polydactyly Brachydactyly Spasticity Scoliosis Splenomegaly Ptosis Hernia Cryptorchidism Bilateral single transverse palmar creases Wide mouth Brachycephaly Hyperreflexia Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Webbed neck Ventricular septal defect Failure to thrive Delayed skeletal maturation Single umbilical artery Delayed myelination Hepatic failure Pleural effusion Cleft lip Cardiomyopathy Wide intermamillary distance Disproportionate short-limb short stature Osteopenia Growth delay Metabolic acidosis Decreased fetal movement Short ribs Kyphosis Abnormal cardiac septum morphology Adrenal hypoplasia Aspiration pneumonia Delayed cranial suture closure Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Aspiration Undetectable electroretinogram Lipodystrophy Corpus callosum atrophy Immunodeficiency Short philtrum Thin upper lip vermilion Reduced visual acuity Cerebral cortical atrophy Clinodactyly Absent speech Midface retrusion Recurrent infections Downslanted palpebral fissures Bile duct proliferation Sensorineural hearing impairment Generalized cerebral atrophy/hypoplasia Calcific stippling Renal cortical microcysts Pachygyria Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Large fontanelles Polymicrogyria Heterotopia Intestinal atresia Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Femoral hernia Renal hamartoma Interrupted aortic arch Visceromegaly Thickened helices Hypoxemia Volvulus Thick upper lip vermilion Renal neoplasm Capillary hemangioma Hamartoma Hypoplasia of the abdominal wall musculature Nephrogenic rest Cholestasis Pneumonia Split hand Peripheral demyelination Progressive visual loss Gliosis Hepatic steatosis Abnormality of the cerebral white matter Severe global developmental delay Acidosis Feeding difficulties in infancy Visual loss Ileal atresia Pectus excavatum Dilatation Congestive heart failure Dilated cardiomyopathy Visual impairment Lactic acidosis Cataract Prominent xiphoid process Distal ileal atresia Synophrys Tapered finger Pulmonic stenosis Congenital contracture Congenital ichthyosiform erythroderma Hypokinesia Petechiae Opisthotonus Abnormality of coagulation Multiple joint contractures Neonatal respiratory distress Akinesia Apathy Ectropion Fetal akinesia sequence Intracranial hemorrhage Poor suck Purpura Knee flexion contracture Progressive neurologic deterioration Interphalangeal joint contracture of finger Pancytopenia Oligohydramnios Cerebral calcification Cardiorespiratory arrest Overlapping fingers Premature birth Myocardial necrosis Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Hepatic necrosis Congenital nonbullous ichthyosiform erythroderma Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Underdeveloped nasal alae Abnormal bleeding Bulbous nose Lymphedema Abnormality of the sternum Overlapping toe Unilateral renal agenesis Proximal placement of thumb Sparse eyebrow Hypoalbuminemia Widely spaced teeth Abnormal intestine morphology Progressive microcephaly Exotropia Congenital nystagmus Bilateral sensorineural hearing impairment Narrow forehead Renal agenesis Dental malocclusion Nevus Large for gestational age Highly arched eyebrow Retinal detachment Downturned corners of mouth Abnormality of the periventricular white matter Retinal dysplasia Triangular face Hyperkeratosis Everted lower lip vermilion Ichthyosis Abnormality of eye movement Arthrogryposis multiplex congenita Microtia Apnea Low-set, posteriorly rotated ears Jaundice Narrow mouth Hypertonia Mild microcephaly Dysphagia Anemia Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Neurodevelopmental delay Hypoplasia of penis Nephroblastoma Dermatan sulfate excretion in urine Fractured radius Decreased fibular diameter Cognitive impairment Abnormality of nasopharyngeal adenoids Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Abnormality of mucopolysaccharide metabolism Beaded ribs Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hyperplasia of the maxilla Multiple rib fractures Myopia Inspiratory stridor Postaxial polydactyly Multicystic kidney dysplasia Muscle stiffness Adducted thumb Flared metaphysis Decreased skull ossification Postaxial hand polydactyly Short femur Hypopigmentation of the skin Micromelia Tremor Anal atresia Craniosynostosis Unilateral cleft lip Rigidity Respiratory failure Multiple prenatal fractures Large fleshy ears Recurrent respiratory infections Abnormality of cardiovascular system morphology Hypochromic anemia Thoracolumbar kyphosis Redundant skin Asthma Umbilical hernia Coarse facial features Kyphoscoliosis Dyspnea Mandibular prognathia Hip dislocation Hyperactivity Poor speech Brain atrophy Postnatal growth retardation Esotropia Short stature Delayed CNS myelination Epileptic encephalopathy Central hypotonia Inverted nipples Aplasia cutis congenita Broad thumb Cutis marmorata Aggressive behavior Joint stiffness Increased mean corpuscular volume Recurrent upper respiratory tract infections Communicating hydrocephalus Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Atrial septal defect Protruding tongue Heart murmur Increased intracranial pressure Tachycardia Tachypnea Encephalopathy Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Mitral valve prolapse Skeletal dysplasia Cyanosis Limitation of joint mobility Hemivertebrae Premature graying of hair Hyperinsulinemia Lobulated tongue Abnormality of the amniotic fluid Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Chronic metabolic acidosis Periportal fibrosis Hamartoma of tongue Accessory spleen Abnormality of the renal tubule Horizontal ribs Median cleft lip and palate Pancreatic cysts Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Microglossia Neoplasm Generalized edema Median cleft lip Overgrowth Polycystic kidney dysplasia Growth abnormality Tall stature Tetraplegia Status epilepticus Lumbar hyperlordosis Congenital diaphragmatic hernia Tricuspid regurgitation Round face Renal insufficiency Increased serum lactate Spastic tetraplegia Leukoencephalopathy Hyperlordosis Abnormality of the kidney Deeply set eye Agenesis of corpus callosum Redundant neck skin Cerebral atrophy Broad foot Anencephaly Macular dystrophy Cerebral cortical hemiatrophy Small for gestational age Hydrocephalus Platyspondyly Recurrent fractures Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Pancreatic fibrosis Telecanthus Abnormality of the cerebellar vermis Lymphangioma Subcortical cerebral atrophy Oxycephaly Rib fusion Wormian bones Broad neck Generalized hyperpigmentation Cystic hygroma Syndactyly Narrow chest Hypoplastic nipples Patent foramen ovale Natal tooth Broad palm Short finger Milia Short thorax Bowing of the legs Metaphyseal irregularity Anophthalmia Preaxial polydactyly Short long bone Oral cleft Holoprosencephaly Short toe Ambiguous genitalia Intestinal malrotation Micropenis Single transverse palmar crease Short foot Short palm Cleft upper lip Mild fetal ventriculomegaly


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